Abstracts from the Twentieth Annual Education Conference of the National Society of Genetic Counselors (Washington, DC, November 2001).

P1: FMN Journal of Genetic Counseling [jgc]

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C 2001) Journal of Genetic Counseling, Vol. 10, No. 6, December 2001 (°

Abstracts From the Twentieth Annual Education Conference of the National Society of Genetic Counselors (Washington, DC, November 2001) Susan E. Estabrooks1 and Elizabeth C. Melvin1,2

Abstracts have been arranged by the Abstract Committee into the following categories: I. II. III. IV. V. VI. VII. VIII.

Award Papers Adult Cancer Carrier Screening Newborn Screening Pediatric Prenatal Professional Issues I. AWARD PAPERS The Beth Fine Kaplan Student Abstract Award

The Impact of Mosaic Chorionic Villus Sampling (CVS) Results on Patients’ Attitudes Both Prenatally and Postnatally: A Retrospective Study∗ E. Hull, V. Vincent, R. Best, E. Horger, and G. Lu University of South Carolina School of Medicine, Columbia, South Carolina CVS is considered an effective means of diagnosing chromosome abnormalities in the first trimester. However, in 1–3% of cases, mosaicism or some other ambiguous result is detected. Because of the complexity of mosaic CVS results, 1 Center

for Human Genetics, Duke University Medical Center, Durham, North Carolina.

2 Correspondence should be directed to Elizabeth C. Melvin, Center for Human Genetics, Duke Univer-

sity Medical Center, Box 3445, Durham, North Carolina 27710; e-mail: [email protected]. by Victoria Vincent.

∗ Introduced

433 C 2001 National Society of Genetic Counselors, Inc. 1059-7700/01/1200-0433$19.50/1 °


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it is difficult for health professionals to predict the clinical impact on the fetus; furthermore, it may be difficult for patients to fully understand and cope with the mosaic result. The goal of our study was to evaluate the effect of mosaic results on patient’s attitudes and determine the needs of women once they received a mosaic result. Women who had a mosaic CVS result from 1995–1999 were recruited from four prenatal centers in the Southeast. Of 55 potential cases, 35 women could be reached to offer participation in the study; 33 of these 35 women completed a 45-minute structured telephone interview for a response rate of 94.3%. In general, women expressed feelings of fear and frustration when they learned of the CVS result. More than half of the women noticed significant changes in their emotional and physical health after receiving the results. Birth defects and mental retardation were the concerns of more than 80% of women, while less than half of women were concerned about miscarriage and only 3% were concerned about prematurity. Most women cited the need for written information about mosaicism. Women also discussed the importance of ultrasound, focusing more on the emotional impact of seeing the fetus after receiving ambivalent CVS results. Only 51.5% of women received follow-up genetic counseling after receiving the mosaic result, and more than 25% had no further diagnostic testing after the result was found. Perhaps most interesting, 58.1% of women stated that they still think about the mosaic results, with some worrying about latent effects in their children. Our study found that mosaic CVS results produce significant psychosocial impact on patients both during pregnancy and afterwards. Support for patients should include genetic counseling, a discussion of further testing options, written information about mosaicism and/or the specific chromosome condition, when available, and contact with other women who have also experienced a mosaic CVS result. Finally, follow-up with these patients after delivery may identify those who still have residual anxiety about the potential implications of CVS mosaicism even when their newborn is healthy. Best Submission by a Full Member of the National Society of Genetic Counselors Evaluating the Use of Preconceptional Health Appraisal Forms in Family Planning Clinics to Identify Possible Genetic Risk K. King-Spohn Family Health Council of Central Pennsylvania, Camp Hill, Pennsylvania A challenge in the field of genetic counseling is to identify individuals in the general population in need of genetic counseling services and to provide accessible services to those individuals. This challenge is especially difficult in a rural area with limited access to a genetics center. We present data evaluating the effectiveness of a preconceptional health appraisal form as a tool to initiate a genetic counseling referral within the family planning setting. Seven family planning agencies throughout central Pennsylvania administered a preconceptional health appraisal form, developed by Moos-Cefalo, over a 27-month period, from January 1, 1999, to March 31, 2001. This form was given to all clients who indicated


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during medical intake that they were interested in pursuing pregnancy within the next 2 years. The initiative was sponsored by the Pennsylvania Department of Health. The preconceptional health appraisal form lists 54 potential preconception risk factors in the categories of nutrition, lifestyle history, family history, medical history, reproductive history, and drug history. This carbon copy form includes a second page, which is sent home with the client, listing actions to be taken by the individual to minimize risks identified through the form. Nine hundred and thirty forms were completed and submitted for analysis. The average client identified 3.94 risk factors as potential concerns for future pregnancies. Five risk factors, including “questions about blood relatives having children,” “hemophilia,” “birth defects,” “mental retardation,” and “cystic fibrosis,” provided a specific referral for genetic counseling on the second page. Of the clients completing the preconceptional health appraisal form, 16.15% identified one of these risk factors as pertinent to them. When including other risk factors that would commonly lead to a genetic counseling referral such as “advanced maternal age,” “sickle cell disease,” “more than three miscarriages,” and “infant born with a birth defect,” which were also ascertained, 23.54% of clients were identified as needing a referral for genetic counseling. The use of the form dramatically increased the number of clients referred to a genetic counselor and proved to be an asset to the family planning clinician. This study illustrates that providing a preconceptional health appraisal form to family planning clinics can be an effective outreach effort and can increase the number of clients referred for genetic counseling services. II. ADULT Attitudes Toward Predictive Genetic Testing Among College Women∗ L. Holmgren, H. Kalkwarf, S. Rosenthal, C. Huether, and R. Wenstrup University of Cincinnati, Cincinnati, Ohio Predictive genetic tests for complex adult-onset diseases will potentially lead to earlier diagnosis and improved treatment and prevention strategies. Therefore, personalized genetic risk information could be of considerable benefit to young adults. Genetic tests for complex diseases are not likely to be diagnostic, but rather to provide an estimation of disease risk. The present study assessed interest in genetic testing for a complex genetic disease, osteoporosis, and a single-gene disorder, hemochromatosis, in a population of college women. These diseases are analogous in terms of morbidity, mortality rate, age of onset, and potential for prevention and/or treatment. They differ in terms of the type of risk information that could be provided by a genetic test. We hypothesized that interest in a genetic test for hemochromatosis would be higher than that for osteoporosis susceptibility, given the higher predictive value of the hemochromatosis test. We further hypothesized that health beliefs and health behaviors would predict interest in testing for these preventable conditions. Participants were 181 undergraduate women ∗ Introduced

by Nancy Steinberg Warren.


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recruited through introductory psychology courses at the University of Cincinnati. They were randomly assigned to receive a questionnaire concerning either osteoporosis or hemochromatosis. We assessed demographic variables, prior disease knowledge and familiarity, and performance of preventive health behaviors. Subsequently, participants read a clinical description of the disease and a predictive genetic test. The two genetic tests presented differed in their predictive ability, with the genetic test for osteoporosis susceptibility providing much less certain risk information. Interest in genetic testing and several health belief variables were assessed. We compared interest levels between the osteoporosis and hemochromatosis groups and analyzed variables for association with genetic test acceptance. Sixty-three percent (63%) of the total population was interested in genetic testing. Interest was higher in the osteoporosis group (68%) than in the hemochromatosis group (58%), though no significant differences were found. Perceived risk and familiarity were significantly higher for osteoporosis. Significant predictors of interest in testing were perceived severity of disease, perceived risk, and familiarity. Preventive health behaviors were not related to interest in testing. These results suggest that college-age women may be receptive to genetic screening tests for preventable conditions, and that low predictive value may not be a deterrent to test acceptance. The impact of familiarity on interest in testing suggests that education would be important if genetic screening tests are to be offered to this population. Counseling Considerations Unique to Familial Basal Ganglia Calcification (FBGC) Also Known as Fahr’s Disease S. Hopfer and M. J. Sobrido UCLA School of Medicine Neurology Department, Los Angeles, California Familial basal ganglia calcification (FBGC), also known as Fahr’s disease, is a rare adult-onset neurodegenerative disorder generally inherited in an autosomal dominant pattern. The hallmark of this condition is the presence of bilateral, symmetric calcium deposits in the basal ganglia and other brain regions that can be visualized by a head CT scan. Clinical manifestations are broad and include muscle cramping, imbalanced walking, incoordination, slurred speech, dysphagia, Parkinsonian features, seizures, and migraines. Neuropsychiatric abnormalities are often also present, and may include mood changes, psychosis, or dementia. The etiology of FBGC is unknown and the responsible gene or genes have not been identified. No effective treatment is currently available. To establish the diagnosis of FBGC other conditions associated with cerebral calcifications, such as metabolic, infectious, inflammatory, or toxic damage to the brain, must be excluded and the familial nature of the condition must be assessed. The rarity of FBGC has generally precluded genetic counseling as part of routine clinical care. In addition to counseling issues common to other degenerative disorders of the nervous system, several aspects specific to FBGC have to be considered. Calcifications can be present long before the onset of symptoms and thus the brain CT scan behaves as a presymptomatic test. We address the ethical issues that arise in FBGC when CT scans are recommended for at-risk family members. Although the presence of brain calcifications indicates that symptoms of the disorder will eventually develop, the localization and extension of calcium deposits in the neuroimaging


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are not good predictors of onset age, type, and severity of clinical manifestations. Patients and at-risk family members, therefore, need to be informed of the benefits and limitations of the CT scan. As with other presymptomatic testing protocols, ensuring informed decision making and determining psychological state before testing are key elements to appropriate management of FBGC. Furthermore, offering presymptomatic testing to minors when there is no treatment raises ethical issues that need to be addressed. Genetic counseling should be offered to individuals considering testing in order to address the complex nature of these issues and to ensure that informed medical decisions are made. We hope this discussion acts as a stepping stone toward (1) raising awareness of this illness, (2) achieving consensus in the professional community regarding standard of care, and (3) formalizing guidelines for FBGC. Effectiveness of a Cognitive–Behavioral Intervention on Symptomatology, Self-Efficacy and Quality of Life in Adults With Ehlers–Danlos Syndrome (EDS) and Chronic Pain T. Magyari, E. Pastrovich, K. Redlinger-Grosse, E. Bittner, and C. Francomano National Human Genome Research Institute (NHGRI), Bethesda, Maryland Objective: To determine if Mindfulness-Based Stress Reduction (MBSR), a cognitive–behavioral intervention, is effective at reducing symptomatology and increasing self-efficacy in persons with EDS and chronic pain. Background: The incidence of chronic pain in adults with EDS is approximately 85%, with 25% physically disabled by their pain. Several studies have concluded that conventional medical and physical therapy poorly control this pain and that cognitive–behavioral techniques warrant investigation. The literature also suggests that enhancement of self-efficacy through cognitive–behavioral programs may reduce pain-related disability and symptoms of depression. Methods: We studied the effectiveness of MBSR (mindfulness meditation, full-body relaxation, gentle yoga, communication skills) as developed at the University of Massachusetts School of Medicine. Twenty-six persons with EDS and chronic pain participated in weekly intervention groups, 2 h per week for 10 weeks. Pain inventories (Brief Pain Inventory and Visual Analog Scales) were collected weekly from enrollment through 3 months postintervention. Other outcome measures (SCL-90, SF-36, Ferrans and Powers Quality of Life Scale, Medical Symptom Checklist, and Improved Self-Efficacy Scale) were performed pre-, post-, and 3 months postintervention. Results: At baseline, pain and impairment from pain was severe, and quality of life was decreased in all domains. Nineteen persons completed the MBSR intervention, with significant pre–post results as follows: reduction in medical symptoms on the MSCL from 30 to 23 (t = −2.32. p < 0.05); decrease in somatization ( p < 0.02) and depression ( p < 0.01) on the SCL-90, with additional drops in anxiety ( p < 0.05), Global Severity Index ( p < 0.05), and PSDI ( p < 0.05) on 3-month follow-up; improvement in mental functioning on the SF-36 (t = 1.841, p < 0.05); decrease in pain interfering with mood (t = −32, p < 0.01), with trends toward decrease in pain interference of sleep (t = −1.75, p = 0.10) and pain interference of enjoyment of life (t = −1.95, p < 0.10) on the BPI. In addition, fully two-thirds of completers


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showed “some” or “great” improvements in all 10 domains on the Improved Self-Efficacy Scale. Conclusions: Our pilot study showed MBSR to be an effective method for reducing symptomatology and increasing self-efficacy and quality of life in persons with EDS and chronic pain. This is a promising intervention that warrants further investigation. Adults With Marfan Syndrome: Perceptions of Reproductive Planning K. Peters, F. Kong, and B. Biesecker Pennsylvania State University, University Park, Pennsylvania As individuals with Marfan syndrome (MS) are increasingly diagnosed with their condition prior to childbearing, there is opportunity to study factors that influence their reproductive planning. We present data from a cross-sectional survey of 174 adults with MS regarding their reproductive planning. Forty percent of the respondents had children, and 23% had one or more child with MS. Approximately 62% of total cohort agreed that having MS has significantly affected their decisions regarding having children. Age at diagnosis ( p < 0.001), mitral valve prolapse ( p < 0.03), and the view the MS has adverse consequences on life ( p < 0.001) were each independently correlated with the perception that having MS had influenced decisions regarding having children. By qualitative analysis, increased worries about own personal health (30%) and increased chance of having an affected child (53%) were found to be the two most commonly cited ways MS has affected respondent’s reproductive decisions. Twelve percent reported that they had electively stopped further reproduction because of their diagnosis. Of the total cohort, 69% reported that they would be interested in prenatal testing for MS. Male respondents were significantly more interested in testing than female respondents ( p < 0.004). Respondents who came from families that place a high emphasis on ethical and religious values were significantly less interested in prenatal testing than those who did not come from such families ( p < 0.03). These results affirm that issues inherent to the diagnosis of MS significantly influence affected adults’ reproductive decision making. With expertise in heath education and counseling, genetic counselors are ideally positioned to address the psychological and social issues surrounding reproductive planning with clients with MS. III. CANCER Obstetricians’ and Gynecologists’ Knowledge, Interests, and Current Practices With Regard to Providing Breast and Ovarian Cancer Genetic Counseling∗ K. Brierley, K. Kim, E. Matloff, and L. Wilkins-Haug Brandeis University, Waltham, Massachusetts There is debate in the current literature over who should provide cancer genetic counseling services in the future. Some suggest that more genetic counselors should ∗ Introduced

by Kathryn Spitzer Kim.


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be trained in cancer genetics while others believe that primary care physicians will provide these services. The purpose of this study was to assess obstetriciangynecologists’ current practices, interests, and knowledge with regard to breast and ovarian cancer genetics and determine the most appropriate role for these physicians in providing cancer genetic counseling services. A quantitative survey was mailed to 1000 obstetrician-gynecologists in the United States. The survey had several sections, including demographics, current practices, preparation, and a clinical scenario followed by questions assessing knowledge of cancer genetics. The majority of respondents had formal genetics training. Most asked their patients about family history of cancer, although few obtained detailed family histories or pedigrees. Approximately half of the physicians personally provided breast and ovarian cancer genetic counseling and a quarter had ordered cancer genetic testing. In general, respondents did not feel prepared to provide cancer genetic counseling and the majority would prefer to refer to a cancer genetic counselor (79.7%) or have one on staff (11.1%). On average, respondents performed poorly on cancer genetics knowledge questions, answering only 3 of the 7 questions correctly. Physicians who felt prepared scored higher on average ( p = 0.000–0.010), and those who had postgraduate genetics training (CME and/or residency) were also more knowledgeable ( p = 0.023). Obstetricians and gynecologists would prefer to perform a gatekeeper role in the provision of cancer genetic counseling services, screening patients and referring those at increased risk to a genetic counselor. However, based on the low knowledge scores, it appears that these physicians require more training in cancer genetics before performing this function. Cancer genetic counselors should form better alliances with obstetrician-gynecologists to provide education, improve physicians’ knowledge of cancer genetic risk assessment, and encourage appropriate referrals. Factors Influencing a Decision Against Breast Cancer Genetic Testing∗ L. Dellefave, M. Ahrens, R. King, and J. Kahn University of Minnesota, Minneapolis, Minnesota The demand for genetic counseling and genetic testing for breast cancer has grown with increased awareness of the ability to test for a hereditary predisposition caused by mutations in BRCA1 and BRCA2 genes. The genetic counselor’s role in hereditary breast cancer counseling includes addressing the risks and benefits of testing for mutations in BRCA1 and BRCA2 and facilitating decisions about whether or not to have genetic testing. Many studies focus on reasons why patients choose to have genetic testing for hereditary breast cancer; however, to date, empirical data has not been reported regarding factors that influence a patient’s decision to decline testing. The purpose of this study was to identify factors influencing a patient’s decision to decline genetic testing for BRCA1 and BRCA2 mutations. A total of 42 participants were selected based on having had genetic counseling for a family history of breast cancer and decided not to have genetic testing. Twenty-four of the 42 patients participated in a structured telephone survey designed to characterize the factors important in their decision. The reasons to ∗ Introduced

by Mary Ahrens.


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decline BRCA1 and BRCA2 mutation analysis were determined by open-ended questions and Liekert-type factors derived from literature on breast cancer and Huntington disease. The most influential reasons found to decline BRCA1 and BRCA2 mutation analysis were as follows: preferring to test an affected family member initially to limit variable interpretations of a negative result (24.2%); having a low chance for a mutation to be detected in the family (15.2%); fearing discrimination of health and life insurance (12.1%); high cost of the test (12.1%); and not having a 100% conclusive mutation analysis if a mutation is unknown in the family (12.1%). Participants rated the following as being most important for genetic counselors to discuss with at-risk patients: cancer prevention strategies for BRCA1 or BRCA2 mutation carriers; risk statistics associated with an increased risk; an interpretation of positive and negative mutation results; and insurance discrimination. The results of this study also indicate that a discussion involving the cost of the mutation analysis, the preference for an affected family member to initially be tested, the potential for insurance discrimination, and the possibility of an inconclusive mutation analysis are influential for patient decision making regarding whether or not to have genetic testing. The Cancer Genetics Service in Wales: Audit of Telephone Risk Assessment Counseling S. Dougan, E. France, K. Gamet, K. Platt, A. Short, K. Brain, and J. Gray Cancer Genetics Service in Wales, Singleton Hospital, Swansea, Wales, United Kingdom Aim: To evaluate the efficacy and acceptability of telephone cancer risk assessment counseling. Background: The Cancer Genetics Service in Wales operates from the three regional cancer centers in Wales, each with its own genetic counselor(s). Individuals referred to this service initially receive a family history questionnaire, which is then used for genetic risk assessment. Those individuals assessed to be at high risk are seen in person at a cancer genetics clinic, and those assessed to be at a low or moderately increased risk receive a telephone counseling contact from the local genetic counselor to discuss their cancer genetic risk assessment. Methodology: To assess the efficacy of the telephone counseling approach for those individuals assessed to be at either low or moderate risk, a semistructured patient satisfaction questionnaire was devised. Open-ended questions were included to elicit important qualitative data. Between April 01, 2000, and June 30, 2000, 178 questionnaires were mailed to individuals who had completed the cancer risk assessment process, had been assessed to be at either low or moderate risk of cancer because of their family history, and had been counseled as such by telephone. Results: A 74% response rate was achieved. Data analysis showed that greater than 85% of all patients were satisfied or very satisfied with the content, amount, and delivery of telephone counseling. Detailed results, including comparisons between the two risk groups as well as qualitative evidence, will be presented. Conclusion: In view of the increasing number of referrals to cancer genetics services, these data provide evidence for appropriate service delivery and structure. We suggest (a) telephone counseling those patients at low or moderately increased


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risk, thereby avoiding inappropriate reinforcement (by hospital appointment) of their perceived risk and associated anxiety, and (b) focussing resources on clinic appointments for the high risk group who require face to face counseling. Knowledge, Attitudes, and Behaviors of Individuals Diagnosed With Head and Neck Paraganglioma∗ C. Drovdlic, E. Myers, B. Baysal, J. Peters, and W. Rubinstein The Ohio State University, Columbus, Ohio Paragangliomas (PGL) are mostly benign tumors of the head and neck that affect about 1/30,000 individuals. PGL surveillance reduces morbidity and possibly mortality. Reportedly, 7–50% of PGL are inherited. Hereditary cases can be identified by clinical features, pedigree analysis, and/or currently available clinical gene testing. Germline mutations in the SDHD and SDHC genes are associated with hereditary PGL and are inherited in an autosomal, dominant fashion. However, pedigree analysis of SDHD has also suggested maternal genomic imprinting. These recent molecular discoveries provide opportunities for research on comprehensive risk assessment, genetic counseling, and testing for PGL. The goal of this study was to characterize the knowledge, attitudes, and behaviors of individuals with PGL. We gave mail questionnaires and structured telephone interviews to a group of 82 individuals diagnosed with PGL of the head and neck. These individuals were identified by previous participation in our linkage study to find the SDHD gene (N = 33), or by presenting to an otolaryngologist with head and neck PGL (N = 49). Those who had participated in the linkage study were more likely to know that PGL could be inherited, and to have seen a genetic counselor (GC). Those who had seen a GC were more likely to rank their knowledge of PGL as high. There were no significant differences between groups in comfort while discussing PGL, but those who had participated in the linkage study or who had seen a GC were more likely to frequently discuss PGL with their family than those who had not. There were no significant differences in screening behaviors between those in the linkage study and those who were not. Less than 40% of the linkage study participants were receiving the recommended medical screening for PGL. These individuals were all classified as having heritable PGL based on family history, and as such are at increased risk for a second PGL. We conclude that genetic counseling for PGL should stress the availability and importance of screening to those with an inherited predisposition. Familial Risk for Colorectal Cancer: A Survey of Physicians∗∗ J. Goldstein, J. Quillin, L. Murrelle, A. Zfass, and J. Bodurtha Virginia Commonwealth University, Richmond, Virginia Colorectal cancer (CRC) is the second leading cause of cancer death in the United States. Mortality can be significantly reduced if CRC is detected early ∗ Introduced by Wendy Rubinstein. ∗∗ Introduced by John Quillin.


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through screening procedures. Individuals with a family history of CRC or adenomatous polyps are at increased risk for developing CRC, and thus can benefit from screening at a younger age. Physicians are in an excellent position to identify patients at increased familial risk for CRC and to refer them appropriately for screening. Furthermore, because several studies have shown that familial risk for CRC is not well understood by patients, and patients with CRC rarely discuss with their relatives the need for screening, physicians have an important role in educating patients about these issues. In this study, family practice (FP) physicians and gastroenterologists (Gs) were surveyed to investigate how they identify patients at increased familial risk for CRC, and to determine how often they educate patients about familial risk. One hundred and seventy-two FP physicians (response rate = 22.3%) and 48 Gs (response rate = 23.6%) responded. Gs were significantly more likely than FP physicians to ask patients specific questions about the family history of CRC and adenomatous polyps. Sixty percent of FP physicians asked a specific question about CRC, and 27% asked a specific question about adenomatous polyps in the family. Significantly more FP physicians than Gs said that amount of time would influence their decision whether or not to ask a patient about the family history of CRC. Gs explain familial risk to patients with CRC, and encourage communication of familial risk within the family, significantly more often than were FP physicians. However, were FP physicians who have had CME in genetics or cancer genetics were significantly more likely to explain familial risk to patients and to encourage communication within the family than were FP physicians who have not had CME. CME did not have an effect on the frequency with which Gs perform these roles. FP physicians showed significantly more interest than Gs in resources that could help them to identify patients at increased familial risk for CRC. In conclusion, we found a need for physician education about familial risk for CRC, especially regarding risk to relatives of patients with adenomatous polyps. In addition, CME in genetics or cancer genetics had a significant effect on the practices of FP physicians but had no effect on the practices of Gs. After Genetic Counseling for HNPCC in Germany: Changed Perceptions? C. M. Haunstetter, R. Jost, H.-P. Knaebel, P. Kienle, F. Cremer, R. G. Weber, C. Sutter, J. Gebert, M. V. Knebel Doeberitz, and M. Keller University of Heidelberg, Heidelberg, Germany Purpose: Colleagues in human genetics, surgery, and psychosocial counseling visit each person/family in our clinic as part of a national, multicenter study of HNPCC (hereditary nonpolyposis colorectal cancer). In order to learn more about the short- and long-term psychosocial consequences of genetic testing for HNPCC, prospective data from patients (P) and persons at risk for HNPCC (RP) are being collected at seven timepoints, including T0 (precounseling), T1 (4– 6 weeks after initial counseling), and later timepoints T2–T6. Objective: To study how and if (1) cancer worry and anxiety and (2) perceptions of the arguments for (pros) and against (cons) genetic testing for HNPCC changed after initial counseling. Methods: Data were collected using self-completed questionnaires. Scores


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from HADS (Hospital Anxiety and Depression Scale) and IES (Impact of Event Scale) of P and RP were compared from T0 to T1, and frequencies of Likertscale responses about pros and cons of genetic testing were compared for P and RP for both timepoints. Results: To date, data from 31 respondents (n = 15, P; n = 16, RP) have been collected (response rate: 88.6%). Though not statistically significant, P and RP demonstrated lower HADS and IES scores after counseling. RP scored slightly higher on HADS scales than P at T0, but still fall into normal range. For P and RP, preference for certainty over uncertainty and potential relief from a negative genetic test result were the most cited pros of genetic testing at T0. Patients rated genetic testing pros and cons very similarly at T0 and T1. However, RP viewed several arguments differently after counseling. For instance, more RP at T1 (81%) agreed that genetic testing would help them do something to lower their children’s and relatives’ risks than at T0 (38%). After counseling, several more RP disagreed with the arguments that they would not deal well with a positive result (mutation) or learning of their children’s increased risks. Conclusions: After the initial counseling session, P and RP appear to worry less about cancer, though our continued research with this population will better inform this observed trend. Findings reflect that in contrast to P, RP are more influenced by counseling regarding how they view pros and cons of genetic testing for HNPCC. Education about HNPCC and genetic testing is a hypothesis for the shifts in perceptions. Breast Cancer Genetics Education for College Women: An Evaluation of Approaches∗ K. Howell, K. Huelsman, J. Everett, and R. Hopkin University of Cincinnati, Cincinnati, Ohio Breast cancer occurs at higher rates in women over the age of 55. Young-adult women, however, often do not realize they may also be at increased risk if they have a strong family history of breast cancers. Breast cancer genetics education, when incorporated into a general education program about breast cancer, would inform college-age women about hereditary breast cancer risks and options for risk reduction, to ultimately promote early detection or prevention of breast cancer. The purpose of this study was to identify the optimal breast cancer genetics education method for college-age women. A convenience sample of 35 college women was recruited for focus group inclusion. Participants completed demographics and knowledge assessment questionnaires and viewed portions of four common breast cancer genetics education tools (CD-ROM, video, brochure, and lecture). In focus groups subjects discussed positive and negative aspects of each tool, ideas for disseminating the information, and the importance of the topic of breast cancer genetics. Focus group participants preferred tools that were convenient, self-paced, personal, and reflective of real situations. Aspects considered negative included the inability to ask questions or repeat information and situations not relevant to the life of a college female. Participants ranked the CD-ROM as most preferred, ∗ Introduced

by Karen Huelsman.


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followed by the lecture, the brochure, and the video. They suggested combining tools and widely disseminating breast cancer information in conjunction with other health-related events. Participants expressed that global breast cancer education is important, but only women with a family history are likely to seek information about inherited breast cancer. In order to be received by college populations, breast cancer and genetics information must be delivered in a relevant way. An educational intervention based on these findings might comprise a general breast cancer lecture delivered by a young breast cancer survivor to illustrate relevance, followed by distribution of CD-ROMs and brochures to those most interested in information on breast cancer genetics. Future studies may lead to education tools created specifically for this population and educational efforts for women of similar age who do not attend college. Literature Needs for Patients Evaluated for Hereditary Cancers: Development of Five New Brochures K. Huelsman, K. Howell, S. Parmar, M. Pritzlaff, A. Shanmugham, S. White, and J. Everett Children’s Hospital Medical Center, Cincinnati, Ohio Objective: We assessed literature needs for patients with a family history of cancer and used this information to develop new brochures that meet these needs. Counseling sessions for inherited cancers are generally long and can often include information that is difficult for patients to absorb during the session. Methods: Three methods of data collection were used to determine specific areas of literature need for these patients. First, responses to a mailed follow-up questionnaire sent to 345 patients were analyzed. Second, information collected at focus groups for young women of college age provided insight into the needs for younger patients. Third, the frequency of patient request in the clinical setting also identified areas of need. Results: Five primary areas of need were identified: (1) exploring and collecting your family history, (2) understanding insurance issues relating to genetic discrimination, (3) colon cancer screening for women, (4) informing relatives about a mutation, and (5) discussing with children the family’s high risk for cancer. Five distinct pieces of patient literature were developed, which address each of these areas of need specifically. The content of each is reviewed and a sample of each brochure will be displayed. Conclusion: We present five areas where additional literature is needed to reinforce or add to a typical genetic counseling session for inherited cancer. The content of each brochure is fully discussed to allow other programs the opportunity to build onto the work already completed. It is important for genetic counselors to share newly developed literature resources that might be of benefit to patients on a national level. Paths Toward Reestablishing a “Normal Life”: Women From Hereditary Breast Ovarian Cancer Families R. Kenen, R. Eeles, A. Ardern-Jones, and G. Mitchell The College of New Jersey, Ewing, New Jersey


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This study explored how clients seeking breast/ovarian cancer genetics risk counseling use family communications and other control techniques in their attempts to reestablish a “normal life” after they learn about their genetic risk. This research was undertaken to better understand and improve cancer genetics risk counseling by investigating the social context in which integration of this new “at risk” status takes place. We conducted an IRB-reviewed exploratory, qualitative study at a major clinical and research cancer center in the United Kingdom from January to June 2000. Twenty-one semistructured, in-depth interviews were conducted using a purposive sample of women coming to the cancer genetics risk clinic for the first time. The interview material was supplemented by 5 months of weekly participatory observation at the clinic. Questions were asked about family relationships, whether/how relatives talked about cancer in their families, when they first learned of the family history, outcome of relatives’ breast/ovarian cancer, the sources of their information about cancer, their standards of judging the accuracy of the information, and what they thought was the likelihood of their developing cancer and how they might try to prevent it. We found several communication patterns: open and supportive; directly blocked, e.g., hang up the phone; indirectly blocked, e.g., ignoring requests; deflected, e.g., the use of intermediaries and self-censorship, e.g., avoiding sensitive topics. Clients avoided discussions that caused renewed grief or worry. Most women used several ways, both medical and nonmedical, to reduce their fear in an attempt to return to a “normal life.” For some women, these means were as follows: eating a healthy diet, reducing stress, or having the “right attitude.” For others acceptance into a screening program in a center they trusted was enough, but for a few young mothers prophylactic mastectomy seemed the best route to peace of mind. Some had a great trust in science and medicine while others were fatalistic and felt c’est sera, sera. Family communication patterns around familial breast cancer were extremely complex, varied, and frequently emotionally laden. The psychosocial context that the client brings to the cancer genetics risk clinic needs to be investigated in greater depth and to be incorporated into the counseling process. Early-Onset Colorectal Carcinoma in an Individual With 22q11.2 Deletion J. Larsen Haidle, K. Keppler-Noreuil, A. B. Kanis, and S. Patil University of Iowa, Iowa City, Iowa Microdeletion of chromosome 22q11.2, typically ascertained in children, has a broadening spectrum of associated anomalies. Adults reported in the literature with deletion 22q11.2 are often young; have a milder phenotype, including psychiatric disease; and are frequently diagnosed following the diagnosis in offspring. Very little information is available regarding the range of medical complications in older adults (>40 years), which may be due to underascertainment, secondary to a mild phenotype or decreased survival secondary to associated birth defects. We report an adult with deletion 22q11.2 to further delineate the possible medical complications. The proband, a 53-year-old female, presented with major depressive disorder with psychotic features and mild mental retardation. As a newborn, she was diagnosed with a VSD, and severe respiratory problems secondary to a congenital


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laryngotracheal web. She was diagnosed with adenocarcinoma of the sigmoid colon at 41 years. Her family history is unremarkable for other malignancies. Her daughter presented with hypertelorism, while her grandson had a laryngotracheal web, hoarse voice, hypertelorism, VSD, and anal stenosis. All three individuals had deletion 22q11.2 by FISH analysis. The remaining family members with a deletion are 40 years), to have lower levels of optimism, and to report higher levels of cohesiveness in their families. Analysis of psychosocial measures administered during the follow-up


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interviews suggest participants do not experience significant psychological distress around cancer genetic testing. No difference in psychological well-being was found between the testing versus nontesting groups or between those who were found to carry a mutation versus those who do not carry a familial mutation. Psychological well-being was assessed by measuring depression (CESD), self-esteem, intrusive thoughts, cancer worries, and characteristics of family relationships (conflict, cohesion, and expressiveness). These results parallel outcomes of other studies of HBOC families offered genetic testing. Collectively, they raise interesting questions about the measurement of psychological well-being and the importance of verifying clinical impressions of distress with valid research tools. Young Sporadic Breast and Ovarian Cancers in BRCA1/2 Families: Testing, Counseling, and Management Challenges L. Mensching and S. Buys Huntsman Cancer Institute, Salt Lake City, Utah Since breast cancer is common, it is not unexpected to find sporadic cases of breast cancer in women who are members of BRCA1/2 families but do not carry the family mutation. However, these cancers would be expected to have features similar to sporadic breast cancers, including a later age of onset. Because of generous funding by the Huntsman Cancer Foundation, our High Risk Breast Cancer Research Clinic had the unique opportunity to offer BRCA1/2 sequencing to a second individual in several families in which one individual with a young onset breast cancer had already been sequenced and found to be negative. In two unrelated families, the second family member tested was found to carry a BRCA1 mutation. The initial family member tested in each family was chosen in part because of their young breast cancers, in part because they were the initial testing candidate to present for testing, and in part because they had daughters who were interested in learning their own mutation status. In neither family could we identify a significant family history of cancer in the opposite lineage than that where the mutation was inherited. This experience reinforces the importance of selecting the best candidate for sequencing in a family. It has also prompted a discussion about the possibility of additional sequence analysis for a second family member in subsequent families with a high likelihood of carrying a mutation when no mutation is found in the initial person tested. This situation has also created unique counseling and medical management challenges in both families. We will present the pedigrees and testing information for both of these families as well as a summary of our other research families with known BRCA1/2 mutations in which a family member with a young breast or ovarian cancer did not carry the familial mutation and did not have any other known risk factors for developing cancer. We feel that a discussion of these cases and the unique counseling and medical management challenges that were encountered will increase awareness of the possibility of a BRCA1/2 mutation being inherited in a family even when a family member with a young cancer is negative for sequencing, and of the implications that this scenario can have on genetic counseling and management.


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Satisfaction With Support Group for Women Receiving BRCA Genetic Test Results A. Naumer, S. Montgomery, M. Itzen, and M. B. Daly Fox Chase Cancer Center, Philadelphia, Pennsylvania Women undergoing genetic testing for mutations in BRCA1 and BRCA2 typically receive intensive preparation before learning results. However, little attention has been given to postdisclosure concerns of these high risk women. To assess some of the postdisclosure needs of women receiving genetic test results, we designed a four-part support group series for women who had previously undergone genetic testing for BRCA1/2. Each weekly 2-h session consisted of an educational component followed by an hour for mutual support. A social worker and genetic counselor or nurse trained in genetics facilitated the groups. A total of 391 women who had received genetic test results for BRCA1/2 were mailed a letter briefly describing the study and inviting interested individuals to participate. Sixty-eight (17%) women responded and 39 of these responders registered to attend a support group series. Twenty-nine responders chose not to participate for reasons including time commitment, preference for daytime sessions, lack of interest in program topics, distance, and no need for support regarding genetic issues. Out of 39 registrants, 26 attended one of the support group series. Of these, 11 had tested positive for a deleterious mutation in BRCA1/2, 2 had tested negative for a previously identified familial mutation, and 13 had uninformative results. Participants were randomized into one of four group series based on genetic test results and cancer status to assure balance among groups. After the last session, participants were asked to complete a satisfaction survey. The majority of the attendees said that they were somewhat or very satisfied with their overall experience (92%), the educational topics (96%), the support hour (96%), and sharing ideas and feelings (96%). Seventeen (65%) stated that they would definitely be interested in participating in an ongoing group, while four (15%) said that they were undecided and two (7%) were not interested. Positive individuals were much more likely to state a preference to be in a group exclusively with individuals sharing the same results. Suggestions regarding design of future groups and educational topics were also collected. Although there were not sufficient numbers of participants to obtain statistical power, we were able to identify trends among groups to detect unique reactions and needs that could help design more targeted support group interventions in the future. In the future, we hope to determine whether individuals participating in a support group express more long-term satisfaction with their decision to undergo genetic counseling and testing. Pyschological Disturbance in the Breast Care Clinic: Implications for the Timing of Risk Assessment∗ S. O’Neill, V. Vogel, J. Peters, E. Feingold, R. Ferrell, and W. Rubinstein Cancer Genetics Program of University of Pittsburgh Cancer Institute and Magee Womens Hospital, Pittsburgh, Pennsylvania ∗ Introduced

by June Peters.


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While there is growing recognition of the benefit of cancer genetic counseling services in medical practice, mechanisms for referral are neither well defined nor uniformly implemented. Our aim was to introduce genetic risk assessment into breast care settings, refer those at increased risk for breast cancer to genetic counseling, and determine the factors that motivate an individual to accept or decline a referral to genetic counseling. We explored the use of brief computer-based risk assessment, as a mechanism to screen for referral to a cancer genetics program and measure subsequent uptake, in 271 women attending mammography, biopsy, and treatment clinics in a hospital-based comprehensive breast program. To assess psychological state at the time of the risk assessment, we administered the Profile of Mood States (POMS) to women undergoing screening mammograms (n = 60), having breast biopsies (n = 118), and having cancer treatment or followup (n = 90); mean total mood disturbance scores (TMD) on the POMS were 49), and family history of prostate cancer (positive vs. negative). Results: Of 229 men, 206 (90%) indicated they would want to take a blood test that would show whether or not they had inherited an altered cancer gene. Fifty percent were Caucasian and 50% African American, 67% were ages 35–49 and 33% older than 49, and 72% had a family history of prostate cancer. Both African American and Caucasian men had similar reasons for wanting to receive genetic testing, including to plan for the future, to learn if their children are at risk and to be able to take better care of themselves. There was a marginal difference ( p = 0.02) between men ages 35–49 compared with men older than 49 when asked if they would want to receive genetic testing so they could make decisions about having children. Fifteen percent of the younger men said yes compared with 6% of the older men. There were no other significant differences between the responses of the younger men compared with that of the older men or between men with a family history of prostate cancer compared with men without a family history. Conclusion: The results of this analysis reveal that overall, men who are interested in genetic testing for cancer have similar reasons


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why regardless of age, race, or family history. This information will be important for genetic counselors when predictive genetic testing for prostate cancer becomes available. Pilot Study of Nurses’ Response to the Familial Cancer Risk Assessment and Management Credential A. Parlanti, A. Masny, A. Naumer, and M. B. Daly Fox Chase Cancer Center, Philadelphia, Pennsylvania The Institute for Clinical Evaluation (ICE) and the American Society of Clinical Oncology (ASCO) recently instituted the Familial Cancer Risk Assessment and Management credentialing exam for “individuals who provide assessment and management services to patients who have, or are thought to be at risk for, cancer.” This credential is being offered to genetic counselors, nurses, physicians, and other health care providers. Purpose: To provide information for genetic counselors regarding how other health care professionals view and plan to utilize this credential. Methods: Nurses who have attended Fox Chase Cancer Center’s “Nurses in Genetic Cancer Risk Counseling” course were identified and asked to answer a series of open-ended questions regarding their role in familial cancer risk assessment, interactions with genetic counselors, knowledge of and level of interest in obtaining this credential, and how they feel this credential will affect them and their interactions with genetic counselors. Results: Of the eleven nurses interviewed, the experience in familial cancer risk assessment ranged from beginner to multiple years, with an average patient load of 10 per month (ranging from 2 to 30). Ten (91%) currently have interactions with genetic counselors. Eight (73%) were aware of the ICE credential, with 1 (12.5%) planning to receive it, 5 (62.5%) undecided, and 2 (25%) not planning to receive it. Of the 6 considering or planning to receive it, 4 have the required Masters degree. Reasons for considering the credential included validation of knowledge, credibility for patients and colleagues, standardization of expertise across several professions, and personal satisfaction. Several nurses expressed a stronger interest in a similar credential offered by the International Society of Nurses in Genetics. Overall, the nurses did not feel that receiving the ICE credential would change their interactions with genetic counselors. The majority felt that they would still work collaboratively. Some stated that the credential would help identify nurses and genetic counselors specializing in cancer risk assessment. Conclusion: Eight of 11 nurses were aware of the ICE credential, 4 were eligible, and 1 had plans to receive it. The results of this pilot survey will help to evaluate the interest of other health care professionals in the ICE credential and to assess the potential effects on the interactions with genetic counselors. A standardized survey distributed to a larger, diverse number of health care providers will provide further information. A Pilot Study on Predictive Models for BRCA1/2 Mutation and Implications in the Clinic L. Pho, L. Mensching, R. Kerber, and S. Buys Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah


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Multiple predictive models, each with unique risk methodologies, are available in a computerized format called CancerGene, with BRCAPRO° , for determining the likelihood of a BRCA1/2 mutation in an individual. The combination of these risk models provides for broader analyses of families with various medical backgrounds but is limited by the population characteristics from which they are derived. These models have nonetheless been useful in counseling as one factor in offering genetic testing and in defining research eligibility. Our primary study objectives are (1) to determine sensitivity and specificity of these models and (2) to evaluate and compare the clinical values of the models and implications in counseling practice. These results may also be useful in maximizing recruitment of mutation carriers into our research clinic focusing on known BRCA1/2 families. We retrospectively evaluated 28 unrelated families with a confirmed BRCA1/2 mutation by sequencing who were selected from our research clinic. Probands from unrelated families had previously completed an extensive family history questionnaire. We calculated the probability of BRCA1/2 mutation based on these self-reports of family histories for each model using the CancerGene with BRCAPRO° software. The models are BRCAPro, UPenn, and Myriad I & II. Data are presented with 95% confidence intervals. BRCAPro’s estimate of the probability of carrying either BRCA1 or BRCA2 mutations is the highest, with an overall median of 0.32. The BRCAPro estimate of the probability of being a BRCA1 carrier was also highest for known BRCA1 carriers (median 0.27). None of the methods yielded high probabilities for detecting BRCA2 carriers (the highest median observed was 0.12 in the Myriad models). None of the methods discriminated usefully between carriers of BRCA1 and BRCA2 mutations. The specificity of each model will also be calculated and presented. These preliminary results suggest that the BRCAPro model has the highest sensitivity of the models analyzed. They also suggest that the standard 10% chance of carrying a mutation may not always be a reasonable threshold for offering testing, particularly for BRCA2 mutation detection. A larger study population will better define each model’s threshold value for use in the genetic testing decision and in setting research enrollment criteria. C

C

Segregation of Two Von Hippel–Lindau (VHL) Gene Mutations in the Same Family R. T. Pilarski and C. Eng Clinical Cancer Genetics, James Cancer Hospital, The Ohio State University, Columbus, Ohio The consultand in this family presented to us with a positive genetic test for VHL. Her niece had been recently diagnosed with a large angioma on the optic nerve, and a diagnosis of VHL was suggested by the ophthalmologist. The consultand, who was essentially asymptomatic, had arranged her own VHL gene test through her primary care physician before her niece was tested. She was found to have the P81S alteration in the VHL gene, which has been classified as a mutation. Since her niece’s test results were due out shortly before our initial consultation with the consultand, we requested that these be faxed to us. The affected niece was


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found to have the R167W VHL mutation. Both test results were confirmed by the reference laboratory through repeat testing on new blood samples. The parents of the affected niece were tested and did not have either mutation. Nonpaternity was denied, but paternity was not confirmed by laboratory analysis. The incidence of VHL is approximately 1/36,000, and the new mutation rate has been estimated at approximately 1/431,000 to 1/227,000, with 15–25% of all cases thought to be due to new mutations. The medical history in the extended family of our consultand is not suggestive of VHL, although the majority of the family do not receive regular medical care. This case is an important reminder of the possibility of the co-occurrence of rare genetic events. It highlights the importance of obtaining relevant medical records on affected relatives, even in situations that at first glance appear to be straightforward. Perception of Genetic Discrimination Among Women Counseled for Hereditary Breast and Ovarian Cancer∗ M. Pritzlaff, C. Christianson, J. Everett, J. Groden, and K. Huelsman The University of Cincinnati, Cincinnati, Ohio Objective: This study assessed perceived genetic discrimination among women in a clinically based breast and ovarian cancer program. Methods: 145 women who received genetic counseling for hereditary breast and ovarian cancer through the Hereditary Cancer Program at Children’s Hospital Medical Center and The Barrett Cancer Center at the University of Cincinnati completed a self-administered, standardized questionnaire. A Likert scale was used to assess perceived genetic discrimination, and participants were asked to describe any experiences with genetic discrimination that they have had. Results: Of the 137 participants who responded to these questions, 5% (n = 7) indicated that they agree or strongly agree that they have experienced genetic discrimination. Of these participants, 2 tested negative for a BRCA1 or BRCA2 mutation, and 5 did not have genetic testing. Descriptions of experiences with genetic discrimination include difficulties in obtaining insurance coverage and positive treatment by their community. Ten percent of participants (n = 13) indicated that they were uncertain if they had experienced genetic discrimination. Eighty-five percent (n = 117) indicated that they have not experienced genetic discrimination. Conclusion: Women who receive genetic counseling for hereditary breast and ovarian cancer may have difficulties in obtaining insurance coverage for genetic testing or prophylactic surgery, and these difficulties may be perceived as genetic discrimination. Women who test negative for BRCA1 and BRCA2 mutations or who do not have genetic testing may be more likely to have difficulty in obtaining insurance coverage for testing or for clinical services associated with risk than women who test positive for a BRCA1 or BRCA2 mutation. This study demonstrates that there may be some differences between genetic counselors’ perceptions of genetic discrimination and patients’ perceptions of discrimination, and highlights the importance of defining genetic discrimination to patients as well as the importance of discussing ∗ Introduced

by Karen Huelsman.


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other potential insurance difficulties that may be encountered as a result of genetic testing. Genetic Analysis of BRCA1 and BRCA2 in 100 Males With Breast Cancer C. Richardson, A. Deffenbaugh, and T. Frank Myriad Genetic Laboratories, Inc., Salt Lake City, Utah Breast cancer in males is rare, affecting approximately 1,500 men in 2001, and making it approximately 100 times less common than breast cancer in women. Numerous studies have associated male breast cancer with the presence of germline mutations in BRCA2, but the contribution of mutations in the BRCA1 gene to male breast cancer remains unclear. The aims of this study were to determine the contribution of BRCA1 and BRCA2 mutations in males with breast cancer, and to correlate mutation status with the reported family history information. A total of 100 males with breast cancer who underwent genetic testing between June 1997 to May 2001 were studied. The males were tested through full sequence analysis of the coding and adjacent noncoding regions of both BRCA1 and BRCA2 (n = 70), sequence analysis of either BRCA1 or BRCA2 only (n = 11), or analysis limited to the three specific founder mutations prevalent in the Ashkenazi Jewish population (n = 19). Clinical information was obtained through a test requisition form submitted with each sample. Overall, 25 males harbored deleterious BRCA mutations, consisting of 8 with mutations in BRCA1 only, 15 with mutations in BRCA2 only, and 2 with one mutation in each. The median ages of diagnosis were 51 years for men with mutations in BRCA1, 58 years for men with mutations in BRCA2, and 59 for men in whom no mutations were found. Of 31 males reporting Ashkenazi Jewish ancestry, 11 (35.5%) were positive for BRCA1 or BRCA2 mutations, with one patient harboring a mutation in both BRCA1 and BRCA2. Of the 12 observed mutations in this group, 11 were one of the 3 founder mutations (187delAG, 5385insC, or 6174delT). Of the 69 males who did not specify Ashkenazi Jewish ancestry, 14 (20.3%) were positive for BRCA1 or BRCA2 mutations, 1 of whom carried one mutation in each gene. Mutations were reported in 2 Ashkenazi Jewish males with breast cancer who indicated a negative family history of breast or ovarian cancer. In contrast, no mutations were identified in the non-Ashkenazi males who reported a negative family history. We conclude that mutations in BRCA1 as well as BRCA2 are responsible for a significant proportion of men with breast cancer tested in a clinical setting. As with women who have breast cancer, mutations in BRCA1 and BRCA2 are overall more prevalent in men of Ashkenazi ancestry, and are especially associated with a family history of breast or ovarian cancer. Levels of Genetics Knowledge and Distress: How Do Cancer Survivors in a BRCA1/2 Program Differ From Unaffected Participants? K. Schneider, A. Chittenden, L. DiGianni, A. Patenaude, R. Gelman, and J. Garber Dana-Farber Cancer Institute, Boston, Massachusetts


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The BRCA1/2 testing experience might be different for cancer survivors than for women who have never had cancer. To look at this issue, we compared genetics knowledge and depression and anxiety scores for cancer survivors and unaffected women undergoing BRCA1/2 testing. Methods: We enrolled 158 women in a BRCA1/2 research testing program, 86 breast or ovarian cancer survivors, and 72 women who were unaffected. Demographics were similar for the two groups, including education and income levels. All participants had at least a 10% chance of having germline BRCA1/2 mutations and 157/158 (99.4%) women elected to learn their results. Positive results were reported to 38 participants (19 cancer survivors, 19 unaffecteds) and negative results were reported to 104 participants (55 cancer survivors, 49 unaffecteds). This excludes women with variant results. Participants completed a 20-item knowledge questionnaire at baseline and 2 weeks after results were given. Depression and anxiety subscales of the Brief Symptom Inventory (BSI) were completed at baseline and 4 months postresults. Results: Knowledge scores were higher among unaffected women than cancer survivors both at baseline (66.52 vs. 57.24, p = 0.02) and postresults-disclosure (72.05 vs. 63.76, p = 0.005). Knowledge scores rose significantly for both groups from baseline to postresults. Overall depression and anxiety scores for cancer survivors and unaffected women were not different at either measurement, but cancer survivors showed improved distress scores from baseline to 4 months postresults (anxiety mean score: 48.7–45.6, depression mean score: 50.1–47.7). Sorting the groups by test results, we found that cancer survivors with positive results actually had improved anxiety scores, and those with negative results had improved scores in anxiety and depression. Unaffected women had unchanged depression and anxiety levels regardless of test result. Discussion: Cancer survivors were less knowledgeable than unaffected women about testing, both at baseline and 2 weeks after results disclosure. Thus, it should not be assumed that individuals who have had breast or ovarian cancer are knowledgeable about BRCA1/2 testing issues. Although testing programs often focus on the unaffected relatives, our data suggest that cancer survivors also benefit from pretest and results-disclosure visits. In addition, cancer survivors’ distress scores decreased over time whereas scores were unchanged in unaffected women 4 months postdisclosure. This may suggest that the emotional impact of testing might be different for cancer survivors than unaffected individuals. Assessments of Psychological Distress in Individuals Undergoing BRCA1/2 Genetic Testing K. Shannon, L. DiGianni, N. Borstelman, C. Roche, M. Seiden, A. Patenaude, and J. Garber Massachusetts General Hospital, Center for Cancer Risk Analysis, Boston, Massachusetts Although genetic testing for cancer susceptibility can lead to increased psychological distress immediately on receipt of results, persistent distress is experienced by only about 15% of individuals undergoing testing (Lerman et al., J Clin Oncol, 1998;327:149–163). There is currently no standard means of identifying


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individuals likely to experience persistent distress after testing. In our current study of BRCA1/2 testing for women with at least 10% prior probability of carrying a mutation, we have been collecting data on their psychological states. Psychological distress is assessed clinically by the genetic counselor or nurse at the time of the pretest education session and scored as “no distress,” “mildly,” “moderately,” or “severely distressed.” Participants also completed a questionnaire at the pretest education visit providing information about psychological history, including past and current psychiatric medication use and past and present psychological therapy. Psychological distress is also assessed via the Brief Symptom Inventory (BSI) at baseline and 4 months following test result disclosure. The BSI is a 53-item selfreport inventory designed to reflect psychological symptom patterns. Items are scored on a 5-point Likert scale and clinical “caseness” (indicating psychological distress) is based on subset scores. Baseline psychological surveys were reviewed on 158 women of whom 45 (29%) reported ever using psychiatric medication; 33 (21%) were current users. 25 women (16%) were in psychotherapy at baseline. Results: At baseline, the distribution of clinical assessments was 71 (45%) not distressed, 76 (48%) mildly distressed, 11 (7%) moderately distressed; none was severely distressed. At baseline, 18 met BSI criteria for caseness. At 4 months following results disclosure, 16 met BSI caseness criteria. Nine of 18 meeting BSI caseness criteria at baseline still showed casesness at 4 months; the other 7 were new cases. Five of 11 of those classified as moderately distressed by clinical assessment at baseline were BSI cases at 4 months. Neither cancer status nor gene test result was a predictor of caseness at 4 months. Our data confirm that only a small proportion of women undergoing BRCA1/2 genetic testing will exhibit persistent psychological distress at 4 months after result disclosure. Neither focused clinical assessment of distress nor the baseline BSI were predictors of distress 4 months after result disclosure. Future studies are needed to clarify whether a combination of clinical assessment and measures or other measures are better able to identify those who will have more difficulty with adjustment. Reporting of Side Effects by Breast Cancer Patients on Tamoxifen Differs by Race∗† H. Sheth, K. Tkaczuk, L. Steinberg, A. Carr, and J. Flaws University of Maryland, Baltimore, Maryland Tamoxifen is widely used as a treatment for breast cancer. While this treatment is an effective treatment in many women, it is not effective in about 50% of breast cancer patients. In addition, tamoxifen is thought to cause adverse side effects (vaginal dryness, hot flashes, visual problems) in some women. The reasons that tamoxifen causes side effects in some women are unknown. We hypothesized that tamoxifen may cause adverse side effects in some women because of racial differences, genetic factors, and/or comorbid conditions such as hypertension. To ∗ Introduced

by Lisa Steinberg. work was supported by a grant from the U.S. Army Department of Defense (DAMD17-00-10321).

† This


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test our hypothesis, we recruited 19 African American and 39 Caucasian breast cancer patients taking tamoxifen through a single clinical practice at the University of Maryland Greenebaum Cancer Center. Each patient provided informed consent, completed a questionnaire on medical history, family history, and side effects, and donated a blood sample. The blood sample was genotyped for a polymorphism in a cytochrome P450 drug-metabolizing enzyme known as CYPIA1. This enzyme has been shown to metabolize tamoxifen. The number and types of side effects were analyzed with respect to race, genetic polymorphic status, family history, and hypertension status. Our results indicate that Caucasian women were more likely to report adverse side effects than African American women (odds ratio (OR) = 3.4, 95% confidence interval (CI), 1.0–11.1). There were no differences between the types of symptoms reported by African American and Caucasian women. In addition, genetic polymorphism status (OR = 0.8, 95% CI, 0.03–58.8), family history of breast cancer status (OR = 0.6, 95% CI, 0.2–1.9), and hypertension status (OR = 0.6, 95% CI, 0.2–1.8) were not associated with the number and type of side effects. These data suggest that Caucasian breast cancer patients on tamoxifen are more likely than African American breast cancer patients to report adverse side effects from tamoxifen. These data also suggest that CYPIA1 genetic polymorphic status, family history, and hypertension may not be associated with adverse side effects from tamoxifen. Future studies should examine whether the racial difference in reporting of side effects from tamoxifen stems from cultural and/or biological factors. Such information may be useful during the genetic counseling process. Views of Parents of Cancer Children and Young Cancer Survivors on a Cancer Registry and the Use of Stored Materials for Research C. Tamura, N. Kakee, K. Yoshino, and Y. Tsunematsu National Children’s Hospital, Tokyo, Japan We aim to establish an improved process of informed consent and counseling practice for our institutional cancer registry and the use of stored materials for research. To attain these goals, we obtained the personal views of pediatric cancer patients and their families on the cancer registry and the use of their stored materials. We sent a questionnaire by mail to the parents of cancer patients treated at the National Children’s Hospital in Tokyo. In the questionnaire, participants were asked six questions. We enclosed a pamphlet that explained the current circumstances of the institutional cancer registry and stored materials. The respondents were parents and adult/teenage children who were cancer survivors. Hundred and thirty completed questionnaires were returned. Ninety-five percent of respondents feel that the materials can be stored and used for research, if samples remain after clinical testing or after tissues are removed for clinical reasons. Eighty-five percent of respondents think that an informed consent process is needed prior to storage and research use. Most respondents would be willing to give extra blood (about 10 mL) for research use when their blood is drawn for the clinical purposes. For hereditary cancer research on stored materials and/or using registry information, 84% think that informed consent is needed, 71% would be willing to consent to it, and 74% of those who would consent or who are undecided would like to know


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the research results. As for the institutional cancer registry, 92% would like to be informed before their record is entered into the registry, 59% would be willing to provide information on their condition in the future, 92% would like to learn general information found by the research. Major areas of concerns for respondents are leakage of personal information to third parties and the excess removal of tissues for research purposes that do not have to be removed for clinical reasons. These data showed that patients and families are willing to cooperate on the cancer registry and research use of stored materials, but most respondents think that the informed consent process is important. How the cancer registry functions and when stored materials are used for research are not well known by the Japanese public. Results suggest that with increased awareness and consent, many would be likely to participate and support these research efforts. Successful Use of Peer Educators for Sharing Genetic Information∗ V. Venne and H. Hamann Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah One purpose of genetic counseling prior to having blood drawn for BRCA1/2 analysis is to provide a personal risk assessment and counsel about benefits, limitations, and risks of genetic testing. Often people who seek counseling have already made the testing decision, based on information that varies in accuracy and was received from many sources. Reach to Recovery, a peer support program of the American Cancer Society is one source of information available to many women diagnosed with breast cancer. With the assistance of Reach to Recovery volunteers, we explored the following hypothesis: Women who receive a peer-led genetics intervention would report greater increases in cancer genetics knowledge than women who did not. Five education modules were developed, including one about genetics. Seven Reach to Recovery volunteers were trained to deliver the intervention. To evaluate the impact of the intervention, a prospective assignment was randomly generated so half the participants received the genetic education module. After providing consent, 113 women with confirmed breast cancer completed the baseline questionnaire and received a 1-h educational intervention. Eighty-nine women completed the follow-up questionnaire and are included in this analysis. At the baseline measurement, participants had a mean score of 4.3 on the cancer genetics knowledge scale (out of 10). At the follow-up measurement, women who received the genetic intervention had a mean score of 6.58, compared with a mean score of 5.12 for those who did not receive the intervention. Univariate withingroups t tests indicated that both the intervention and nonintervention groups had significant increases in scores from baseline to follow-up ( p < 0.001; p = 0.002, respectively). A univariate between-group t test indicated that participants who received the genetic intervention had significantly higher increases in scores than women who did not receive it ( p = 0.04). In multivariate analysis, controlling for demographic variables, this finding continued to be supported. Differences in knowledge assessed from pre- and posttesting demonstrated that peer educators can successfully educate women about genetic risk factors. ∗ Supported

by NIH RO3 CA70610.


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Development and Evaluation of an Online Support Group for Individuals With Familial Adenomatous Polyposis: A Descriptive Study∗ K. Waller, W. Kohlmann, L. Schover, D. Johnston, J. Hecht, E. Gritz, and C. Amos University of Texas-M.D. Anderson Cancer Center, Houston, Texas Familial adenomatous polyposis (FAP) is a rare genetic condition that predisposes individuals with it to colon polyps, colon cancer, and extracolonic features such as desmoid tumors. The increased cancer risk, the impact upon quality of life following colon surgery, and the need for lifelong management make ongoing psychosocial support an important component of treatment for individuals with FAP. Support groups are an effective source of social support for people with other chronic health problems; but the rarity of FAP limits this option. Recently, Internetbased communication forums have become available to a larger percentage of the population. We provided an online service in the form of a listserve to facilitate communication, study differences between individuals with FAP who have online access and those who do not, determine variables that may predict listserve usage, and observe the types of communication taking place. We sent participants with a diagnosis of FAP a questionnaire obtaining demographic, clinical, and psychosocial information. The respondents with Internet access were registered onto an e-mail listserve. A total of 33 out of 104 individuals responded, with 26 reporting Internet access and 21 participating in the listserve. The respondents with Internet access demonstrated a higher socioeconomic access and lower overall anxiety than the respondents without Internet access. Listserve activity was monitored for 75 days. Individuals who used the listserve at least once were found to have a monitoring, or information-seeking, behavior in stressful situations, higher depression, and lower satisfaction with social support than participants who were registered and never used the listserve. This trend was also noted in the individual’s frequency of use, but was not significant. A brief message content analysis was performed on the 11 e-mails posted using categories provided in previously published research. Personal experiences and opinions were the most common type of messages posted in the introductory phase of the listserve group. An Assessment of Genetic Counseling Needs and Concerns of Pediatric Cancer Survivors∗∗ M. Wille, M. Walker, H. Hopkin, J. Zins, and R. Noll University of Cincinnati, Cincinnati, Ohio Childhood cancer was once considered an almost always fatal disease but the long-term survival rate is now greater than 65%. It is estimated that by the year 2010, one of every 250 young adults will be a long-term survivor of childhood cancer. These individuals will present for routine health care, including genetic ∗ Introduced by Wendy Kohlmann. ∗∗ Introduced by Martha Walker.


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counseling of reasons unrelated to their history of cancer. However, their childhood medical history may still be a concern to them, especially when considering a pregnancy. The aims of this study were (1) to determine whether survivors of pediatric cancer recall their diagnoses accurately, and (2) to further elucidate reproductive concerns experienced by survivors of pediatric cancer and compare those to concerns their friends have regarding reproduction. Subjects were all individuals over the age of 18 years who attended the Cincinnati Children’s Hospital ATP Five-Plus long-term oncology follow-up clinic during a 5-month period in early 2001. They were interviewed about reproductive concerns and were asked to contact a friend of similar age and gender to serve as a control. Controls were also interviewed and asked similar questions. The interview questions contained demographic information, Likert-type questions assessing worries about self-image and cancer, multiple-choice questions regarding perceived risk of cancer in themselves and their offspring, and a set of standardized questions concerning romantic involvement and appeal. Of the 25 long-term survivors of childhood cancer (mean age 26.3 years; 17 males, 8 females) interviewed, 24 accurately recalled their diagnoses. The comparison of cancer survivors with their friends (study controls) showed no statistically significant differences in worries regarding reproductive issues. Furthermore, there was no statistically significant difference in perceived risk of cancer in themselves or of cancer in their offspring when responses from the two groups were compared. Perceived risks of cancer in self and offspring correlated with worry about these issues. There was no significant difference between subjects and controls in the romantic involvement and appeal questions. These results suggest that cancer survivors who attend annual multidisciplinary follow-up clinics have concerns and worries about reproductive and genetic counseling issues similar to those of their peers. This is important information for genetic counselors to take into account when counseling adults who have survived childhood cancer and when working in a pediatric oncology clinic. IV. CARRIER SCREENING Parental Cystic Fibrosis Mutation Analysis for an Indication of Echogenic Bowel Predicts a 1/16 Carrier Frequency L. Berry, K. Treat, E. Sugarman, and B. Allitto Genzyme Genetics, Framingham, Massachusetts Fetal echogenic bowel (EB) is frequently identified during routine obstetric ultrasound. While this can be a normal variant, it can also be associated with adverse fetal outcomes, including chromosome abnormalities, infection, and cystic fibrosis (CF). Genetic counseling can be challenging given the difficulty in assessing the risk for each of these outcomes. To assess parental CF carrier risk in the presence of fetal EB, we tested 2733 individuals referred to our laboratory because fetal EB or bright bowel was detected. Individuals were tested for a minimum of 70 CFTR mutations. Our population represented 40 different states. The ethnic origins of those tested were Northern European Caucasian (46%),


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mixed Caucasian (18%), Hispanic (11.5%), Asian (6.0%), Southern European Caucasian (5.5%), mixed/unknown ethnic groups (5.5%), African American (4%), and Ashkenazi Jewish (3.5%). A total of 171 CF carriers were identified among the 2733 individuals tested, providing an overall carrier frequency of 1/16 (6.3%). Carrier frequencies varied by ethnic background. To our knowledge, this is the largest, most ethnically and geographically diverse study to date. We further analyzed the results of prenatal diagnosis for the 171 identified carriers, who were from 150 families. In 118 families, carrier testing was performed on both parents (79%), while in 32 families (21%) only one parent had carrier testing. Among the 118 families in which both parents were tested, we identified 21 carrier–carrier couples and 97 couples in which one parent was a carrier. Of 17 fetal samples received from the carrier–carrier couples, 16 were from affected fetuses (94%) and one was from a fetus that inherited one CFTR mutation. Of 47 fetal/infant samples received from couples in which one parent had an identifiable mutation, 30 fetuses inherited the parental mutation (64%) and 17 did not. Among the 32 families in which only one parent was tested, 14 fetal/infant specimens were received; 2 fetuses were affected, 6 fetuses had one mutation, and 6 fetuses/infants were negative for the mutations analyzed. These results suggest that in an ethnically and geographically diverse population, a carrier frequency of 1/16 may be useful for genetic counseling purposes, following the diagnosis of fetal EB. As expected, the identification of a parental CF mutation in the presence of EB was most often predictive of mutation inheritance by the fetus, although prenatal diagnosis may also provide reassurance for those few families in which the fetus did not inherit the mutation. Cystic Fibrosis Prenatal Carrier Screening in a Large HMO Setting J. Coppinger, S. Ungerleider, and D. Witt Genetics Department, Kaiser Permanente Medical Care Program, San Jose, California Cystic fibrosis (CF) is the most common severe recessive condition in individuals of Northern European ancestry, with an incidence of ∼1/2500. Since 1997, various organizations have proposed guidelines for ethnicity-based population CF screening. Recognizing that CF screening will soon become standard of care, we report our experience in implementing and monitoring an ethnicity-based prenatal carrier screening program for cystic fibrosis in a large HMO setting. The CF Screening Program in Kaiser Permanente, Northern California, has been in operation for over 18 months. CF carrier testing is offered to all pregnant women who identify themselves and/or their partners as having Caucasian ancestry. Only male partners of those women who are found to carry a CF mutation are offered testing. Pre-test education is provided by informational video, brochure, and/or consultation with a health professional in the first trimester of pregnancy. Since the program’s inception, approximately 21,000 women have been screened by a CF panel, which currently consists of 37 CFTR mutations and the poly T variant. A total of 736 female CF carriers have been detected, with an overall carrier identification rate of 1/28. Screening of 596 male partners identified 20 at-risk


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couples. These couples have had a total of 21 pregnancies: 3 miscarried before the male partner was found to be a carrier, 3 couples declined prenatal diagnosis, 2 pregnancies were terminated after prenatal diagnosis predicted a fetus with CF, and 13 pregnancies were continued after prenatal diagnosis predicted a normal or carrier fetus. The eight most commonly identified mutations (deltaF508, R117H, I148T, D1270N, D1152H, W1282X, G551D, and R553X) account for 94% of mutations found in our population. The R117H mutation and associated poly T variants have been found in 13% of CF carriers and confirms our previous data showing a much higher incidence than reported in affected CF individuals. In addition, we discovered two compound heterozygotes (R117H/deltaF508 and D1270N/deltaF508), neither of whom was previously diagnosed with CF. Genetic counseling with respect to genotype–phenotype correlation is an ongoing challenge in this large CF screening program. Similarly, the significant number of male partners who decline or are unavailable for CF testing after the female partner is found to be a CF carrier is notable. Other operational concerns include maintaining adequate pretest education/informed consent and providing ongoing education and support to OB/GYN and Health Education staff. Genetic Screening Pocket Facts: A Novel Education Tool for Genetic Screening J. Krogh, E. Ardolic, and S. Sklower Brooks NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York As new standards in genetic screening are developing, primary care physicians are increasingly responsible for providing genetic screening for their patients. Educational tools that summarize current practice in genetic screening would be useful to these physicians. To meet this need, we developed the Genetic Screening Pocket Fact Card, which summarizes basic genetic screening on four topics: hemoglobinopathies, conditions in the eastern European Jewish population, fragile X syndrome, and cystic fibrosis. The card measures 7 × 14 inches and 3.5 × 7 inches when folded in four sections. The cards were laminated for durability. Information was selected by genetic counselors to specifically address problem areas in genetic screening observed by our service. With the exception of fragile X syndrome, a table summarizing carrier frequency, test sensitivity, and laboratory requirements was included for each topic, as well as a written summary. A basic algorithm for both thalassemia and hemoglobin trait screening was also included. A patient information sheet was created, introducing genes, recessive inheritance, screening, prenatal testing, carrier frequencies, and additional information sources to the patient population. The final version of these tools was distributed to 6,500 primary care physicians in New York City obtained from the Medical Society of the State of New York. These were limited to physicians designated as internal medicine, family practice, obstetrics and gynecology, and pediatrics. The physicians, identified only by specialty, were asked to return a 6-question survey; in addition, a random group of physicians were contacted by phone to collect this information. Initial results show that internists are least likely, pediatricians and


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family practitioners somewhat likely, and obstetricians most likely to discuss genetics with their patients. All groups generally found the information clear. The card was rated least useful by internists, followed by pediatricians and family practitioners, and most useful by obstetricians. Although information is already available on each topic individually, we are unaware of a physician pocket guide or patient information summarizing all four of these topics. We present development, distribution, and evaluation of a pocket fact card on genetic screening for primary care physicians and a patient information sheet summarizing genetic screening. This project was funded by a community grant from the Greater NY March of Dimes. Cystic Fibrosis Carriers With and Without a Family History: Attitudes and Practices About Disseminating Carrier Status K. E. Ormond, P. L. Mills, L. Lester, and L. Ross Northwestern University, University of Chicago, and Rush Medical Center, Chicago, Illinois Prior studies have demonstrated that uptake of cystic fibrosis (CF) carrier screening is directly associated with disease familiarity and the proximity of relationship with the proband. As general population screening becomes more common, an increasing number of CF carriers will be identified without a family history. Whether or not these carriers inform relatives of their carrier status, and whether or not these relatives are motivated to pursue carrier screening remains to be seen. Our study (1) assesses how likely carriers are to inform various relatives, (2) examines why information is or is not shared, and (3) compares information dissemination trends between individuals with a family history of CF (Group A) and those without (Group B). CF carriers were ascertained from a general population carrier screening clinic and from parents of affected children followed at a CF clinic. Forty-nine CF carriers (Group A = 32; Group B = 17) completed surveys that addressed demographics and attitudes and practices of information dissemination. Relatives included 168 first-degree relatives (63 siblings, 11 halfsiblings, 94 children), 188 second-degree relatives, and 515 third-degree relatives. CF carriers with a family history told 100% of their living parents, siblings, and half-siblings, while carriers with no family history told 84% of living parents and 56% of siblings. The most common reasons for sharing CF carrier status with parents and siblings were closeness of social relationship and the birth of an affected child with CF. Regardless of the high rate of information dissemination in both groups, a minority of siblings were known to have undergone carrier screening (14/74). One-third of children at risk for being carriers had reportedly been informed of carrier status, at an age range of 2–17 years. For all children not informed of their CF carrier risk, the primary reason was age. There were significant differences between Groups A and B in the frequency of informing second-degree relatives (68 vs. 21%, respectively) and third-degree relatives (50 vs. 3%) about carrier status. Information was provided more slowly as relatives became more distant, and for both groups, few second- or third-degree relatives (6/188 and 14/515 respectively) were known to have undergone carrier screening. The gender of the


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relative(s) or the CF carrier did not seem to impact information dissemination or uptake of carrier screening in relatives. Genetic counseling implications will be discussed. Identification of Barriers to Offering Cystic Fibrosis (CF) Carrier Screening in the Preconceptional and Prenatal Arenas∗ G. Oswald, L. Phelps, J. Bodurtha, L. Murrelle, and K. Kreutzer VCU, Richmond, Virginia Following the 1997 NIH Consensus statement, discussion regarding the efficacy and utility of CF carrier screening has continued. With the 2001 ACMG/ NIH/ACOG guidelines for implementation of widespread carrier screening, the practical issues of offering CF screening in the primary care setting must be addressed. A survey study was conducted to determine the effect of the Consensus statement on current practices and beliefs of obstetrician-gynecologists (OGs) and family practitioners (FPs) in Virginia. Of 1000 surveys mailed to physicians, 126 were returned. Nearly half of respondents were aware of the 1997 statement, of whom 75% report considering the statement in deciding whether to personally offer CF screening to patients. However, all physicians report that in actual practice they are not adhering to the recommendations, as few physicians report offering screening to all preconceptual and prenatal patients (6 and 3%, respectively). Physicians do report a belief that offering screening to all preconceptual and prenatal patients may be appropriate (36 and 28%). When comparing practice between OGs and FPs, OGs are more likely to report they feel current on CF genetic and screening issues ( p = 0.0003) as well as feeling more capable of obtaining informed consent for screening ( p = 0.25). OGs also report they are less likely to influence patients about screening ( p = 0.24). Most frequently identified barriers to offering CF screening include the following: personal experience of a low prevalence of CF (46%), not knowing lab requirements (39%), time limitations (37%), cost of CF screening (32%), and possible lack of insurance coverage (30%). Physicians who have offered screening are more likely to identify cost of testing and insurance coverage as barriers ( p = 0.010 and 0.038), while physicians who have not offered CF screening are more likely to cite being unaware of lab requirements as a barrier ( p = 0.004). Results suggest varying behavior and beliefs about CF screening, as well as a varied impact of national recommendations on physician practice. Targeted education to physicians that addresses the barriers and trends identified may enhance the implementation of widespread carrier screening programs and improve physician delivery of genetic screening in the primary care setting. Free and Easy: Response of Ashkenazi Jewish Individuals to a Free Carrier Screening Program S. Suntag, R. Ebert, and S. Fallet Saint Barnabas Jewish Genetic Disease Program, Livingston, New Jersey ∗ Introduced

by Lorna Phelps.


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Purpose: Cost, inconvenience, and lack of awareness may impact on the utilization of community-based, targeted carrier screening programs. This study assesses response by the Ashkenazi Jewish population to testing when these impedances are reduced. Method: Free carrier screening for 7 diseases was offered on a Sunday at an easily accessible location. Publicity was directed at the public, health care providers, and religious leaders. Participants were given written survey questions about their age, reasons for testing, source of referral, and if they would have pursued screening had it not been free. Results: Out of 156 participants, 146 (94%) completed the surveys. Most respondents (87%) were between ages 21 and 40; 5% of respondents were in their 40s; and 7% were over 50 years old. Reasons for having testing included family planning (51%), to obtain information (21%), family history (9%), and for the sake of grandchildren (7%). Seventy-three percent of participants learned of the program through lay channels (friend, family member, newspaper), 12% from a health care provider, and 10% from a religious leader. When asked if they would have had testing if it were not free, 93 (65%) checked “yes,” 41 (28%) checked “no,” and 10 (7%) wrote in “maybe.” Of those who answered “no,” the common reasons were cost (43%) and a lack of awareness about screening (38%). Patients who answered “yes” were asked where they would have gone. Forty-two (55%) stated they would go to their doctor or hospital. Ninteen (25%) answered with a “?” or “don’t know.” Conclusions: (1) While the majority of patients report that they would have had testing even if it were not free, the offer of free screening enticed them to come on that day. (2) While 55% of patients who would have had screening anyway identified their doctor or hospital as the place they would go, only 12% of referrals came from health care providers. Another 25% of patients did not know where to go. There is a role for educational programs in increasing awareness of services in the community and ensuring proper testing through the providers. (3) Cost and lack of information were the reasons most often cited by those who would not have had screening. The availability of free screening and education is most beneficial to this subgroup. The Implications of Expanded Genetic Carrier Screening Based on the Experiences and Attitudes of Ashkenazi Jewish Patients∗ K. Trzupek, K. DeMarco, K. Ormond, and E. Pergament Northwestern University, Chicago, Illinois In the last 5 years, carrier screening in the Ashkenazi Jewish population has increased from for one to as many as for seven disorders. A qualitative study was undertaken at Northwestern Memorial Hospital to explore the perceived implications of expanded genetic carrier screening among Ashkenazi Jewish individuals. Five focus groups of previously screened individuals were conducted: two included screen-negative individuals (N = 11) and three included screen-positive individuals (N = 10). Additionally, individual interviews were conducted with one couple at risk for Tay Sachs disease, and two individuals diagnosed with ∗ Introduced

by Kristin DeMarco.


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Gaucher disease through carrier screening. Each focus group was asked the same set of open-ended questions designed to generate discussion on topics related to genetic carrier screening. Questions were pilot-tested, reviewed, and revised prior to the study. The examples of Gaucher disease and hereditary deafness were specifically explored. A grounded theory approach was used to analyze the results; findings from the focus groups consisted of patterns that were supported by at least 50% of the respondents, and were categorized into eight themes. Primary themes include (1) the need for improved education and outreach within the Jewish community, (2) the importance of genetic counseling before testing, (3) support for individual choice, and (4) the conviction that carrier screening should be performed prior to pregnancy. Overall, focus group and interview participants were supportive of expanded genetic carrier screening panels, including screening for Gaucher disease and hereditary deafness. Both the practice of expanded carrier screening and the demonstrated support of these programs within the Jewish community underscore the need for widespread screening guidelines. To accomplish this, the medical community must define the goals of genetic carrier screening and address issues of access to care and provider availability. The results of this study suggest specific recommendations for pretest education and genetic counseling. Cystic Fibrosis Carrier Screening Dilemmas: A Case Report S. M. Weissman and C. L. McMahon Northwestern University, Chicago, Illinois In our experience with cystic fibrosis (CF) screening, unique counseling dilemmas have presented. Patients referred for routine carrier analysis and determined to be asymptomatic compound heterozygotes can raise new and unexpected issues for both the patient and the counselor. We present a case illustrating such a situation. Our patient, a 34-year-old female, presented for CF carrier testing because of a family history of cystic fibrosis. The patient has a sister who was diagnosed with CF in her late 20s after a serious car accident resulted in quadriplegia. Additional pulmonary complications prompted CF testing, which revealed a R117H/Y1092X genotype. Carrier testing performed on our patient revealed that she had the R117H/Y1092X genotype as well. Our patient reported being very athletic and in excellent health. Following disclosure of her carrier screening results, our patient was referred to a local adult CF clinic, where her initial evaluation (including sweat tests and baseline pulmonary function tests) was negative for clinical signs or symptoms of CF. This case raises some of the potential dilemmas with CF carrier screening. While this outcome is rare, most patients presenting for CF screening have not considered the possibility that testing may reveal compound heterozygosity and the potential implications of such a test result. In a typical counseling session for CF screening, the possibility of compound heterozygosity is generally not addressed. Our case raises the question of whether this issue should be routinely discussed. Further issues raised by this case include (1) classifying an asymptomatic compound heterozygote with a diagnosis of CF; (2) insurance eligibility ramifications; (3) predictions for long-term prognosis; (4) assessing understanding of compound heterozygosity in relation to phenotypic expression;


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(5) possible prenatal predictions of disease severity if partners are determined to be CF carriers; and (6) 5T analysis and implications of a positive test result on patients and offspring. These are some of the potential dilemmas counselors involved with CF carrier screening are facing. With the expectation of the ACOG recommendation that CF screening be offered to all caucasian couples considering pregnancy or currently pregnant, genetic counselors could continue to be faced with similar situations. It is necessary for the genetic counselor to consider these issues to facilitate the decision-making process, to promote truly informed consent, and to lessen psychological impact. V. NEWBORN SCREENING One Million Newborns Screened for Disorders of Fatty, Organic, and Amino Acid Metabolism Using Tandem Mass Spectrometry Reveals a Population Disease Frequency of 0.021% D. Chace, E. Naylor, and S. Beatty Neo Gen Screening, Bridgeville, Pennsylvania To accurately assess the frequency of rare disorders of intermediary metabolism, large population data sets are required. We report here the occurrence of disorders of fatty, organic, and amino acid metabolism, which was detected using tandem mass spectrometry (MS/MS). Since the technology was implemented in 1992, more than 1 million infants have been screened for these disorders using MS/MS. The population screened consists primarily of infants born in Pennsylvania (∼65%), North Carolina (∼20%), Washington, DC (∼10%), and other states and countries (∼5%). More than 200 cases with 1 of 20 different inherited metabolic disorders of either fatty, organic, or amino acid metabolism were detected, including cases of PKU, MSUD, Citrullinemia, ASA, MMA, PA, IVA, GA-I, GA-II, MCAD, VLCAD, CPT II, LCHAD, etc. We observed the disease frequency for fatty acid disorders to be ∼1/15,000, for organic acid disorders to be ∼1/20,000 and for amino acid disorders to be ∼1/11,000. Overall, these disorders were found to occur in approximately one of every 4500 newborns screened. These findings demonstrate the success of MS/MS-based screening in a high volume newborn screening laboratory as well as provide data to be used by metabolic specialists in assessing screening programs. Development and Evaluation of a Newborn Screening Education Module Targeting Health Care Professionals in Wisconsin∗ D. Pond University of Wisconsin, Madison, Madison, Wisconsin The Wisconsin Newborn Screening (NBS) Program is important to the quality of life of hundreds of newborns each year. For NBS to work, doctors and nurses ∗ Introduced

by Jill Bork Ciske.


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involved must be fully informed about the process. Currently, education regarding NBS is incomplete. According to Wisconsin’s NBS Education Subcommittee, reports of problems with sample collection and how patients are being informed and notified of results come from NBS laboratory staff, health care professionals, and parents. Better education can help eliminate misunderstandings and improve patient care. Therefore, development of a portable module was proposed to educate physicians and nurses statewide. Development involved six stages: objective planning, slide and speaker’s notes development, trial presentation planning, evaluation development, presentations and evaluation collection, and analysis. Module objectives were discussed with NBS Education Subcommittee and identified as (a) emphasize importance of screening, (b) emphasize importance of informing parents, (c) inform about the NBS process, and (d) provide detailed information on each disorder. Slides were created using Microsoft PowerPoint, sent out to subcommittee members, and their comments were used to refine content. Speaker’s notes were written and slides were organized into subpresentations for different audiences and time frames. “Nurses”’ and “physicians”’ versions contained different amounts of information on sample collection and reporting. “Short” presentations ran 20–30 min, while “long” presentations (which included disorder summaries) lasted 40–60 min. Evaluations consisted of four questions, assessing audience opinions of the presentation, their prior knowledge, usefulness of the information to their work, and suggestions. Four presentations were given at three Madison hospitals, two each to nurses/physicians. The “short” versions were given, with evaluations collected following each. In total, 55 people attended (37 nurses, 18 physicians). Total response rate was 78%. Chi-square analysis compared responses regarding prior knowledge for association between level of response and responding group. Analysis showed significant association between the response and the group ( p < 0.0001), with physicians more likely to report previously knowing content. Student’s t test analyzed comparisons between groups on their increased ability to communicate with patients. Nurses rated their improvement as a result of the program as 3.77 on the 5-point scale; physicians rated their improvement as 2.92. This difference was statistically significant ( p = 0.022), with nurses more likely to report increased skills. Comments and suggestions were used to modify the presentation before distribution. Overall, the results indicated the presentation was well received, suggesting Wisconsin’s health care community recognize the need for education on NBS. Elective Newborn Screening by MS/MS in South Dakota K. Zanchetta, R. Grier, B. Yang, J. Ding, and L. Sweetman Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease – Baylor University Medical Center, Dallas, Texas Tandem Mass Spectrometry (MS/MS) is a technology that has high specificity and sensitivity for the detection of selected amino acids and acylcarnitines found in the blood. The implementation of MS/MS for newborn screening allows the detection of more than 30 inherited metabolic disorders from a single drop of blood (dried blood spot). This laboratory currently performs screening


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by MS/MS as an “elective” test for the state of South Dakota. As of May 2001, 10,378 newborns had been screened for the state. Screening detected five cases of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) and one case of Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD). All diagnoses were confirmed by acylcarnitine profile, enzyme analysis, or DNA mutation analysis. This finding implies that the incidence of MCAD in South Dakota approximates 1/2076 as compared with 1/13,000–1/20,000 in the published literature. The apparent increased incidence of MCAD in the population of South Dakota could be due to a small sample size. None of the diagnosed patients were symptomatic prior to testing. The number of days postdelivery for sample collection ranged from less than 12 h to 1 month of age. Early detection of these disorders resulted in early intervention and appropriate diagnosis prior to an acute, life-threatening crisis. This has allowed for the involvement of appropriate medical professionals, including genetic counselors, for these autosomal recessive disorders. DNA analysis of the five cases of MCAD found only two patients to be homozygous for the common mutation (A985G). One individual is compound heterozygous for A985G, with a novel mutation. The remaining two patients do not have a copy of the A985G allele and their MCAD genes are currently being sequenced. The mutation status of the MCAD patients is a most persuasive argument against newborn screening for MCAD by common mutation gene analysis. VI. PEDIATRIC Attitudes Regarding Predictive Testing for Retinitis Pigmentosa R. Babul-Hirji, M. Chipman, L. DaSilva, M. Rowell, C. Shuman, and A. V. Levin The Hospital for Sick Children, Toronto, Ontario, Canada Retinitis pigmentosa (RP) is a form of progressive retinal deterioration that can be transmitted as an autosomal dominant, recessive, mitochondrial, or X-linked recessive disease. Presymptomatic, testing for RP can be done in childhood either by clinical exam of the retina, ERG, or molecular testing, which raises ethical dilemmas particularly in the absence of treatment. There is little literature on the issues surrounding predictive testing for RP, especially in children. Using a questionnaire designed to elicit information from individuals with autosomal dominant RP and their unaffected/affected relatives, this study assessed the attitudes of affected individuals and their families toward RP-predictive testing. Forty-five (82%) of the 54 mailed questionnaires were completed and returned. Of these, 15 were from affected individuals and 30 from unaffected relatives. Detailed analysis of the data will be presented; however some preliminary results follow. Affected individuals very strongly agreed that treatment should be available prior to initiating genetic screening tests compared to unaffected siblings. Twenty-seven individuals with RP completed the questions on prenatal testing versus 12 unaffected siblings. Individuals with RP were much less certain about the use of RP prenatal testing versus unaffected siblings, however, both groups were equally uncertain as to how


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they would proceed with information once the fetus was predicted to have RP. Fourteen families with at least one parent with RP had children tested for RP: altogether 34 children were tested. Twelve tested positive, 11 negative, and for the remaining 11, either the doctor was uncertain (6) or the parent did not know (5). For the majority of children tested, the results were discussed with the child (27/34 or 79%). For 10 families with 21 children, the parents indicated how they thought their children felt after receiving the news, and this ranged from 5% for guilt to 57% for fright. The number of children that had presymptomatic testing for RP in our study shows the easy access to such testing. Also, 57% of children tested for RP felt fright after receiving the results, indicating the potential for significant harm that may outweigh the benefits. Although the sample size was small, the findings reveal a need for larger and long-term studies into the potential risks and benefits, if any, of predictive testing for RP, especially in children. Only in this way can sensible guidelines be formulated, which can then best be applied in the clinical setting. Fabry Disease in Genetic Counseling Practice R. L. Bennett, K. Hart, J. Johnson, E. O’Rourke, G. M. Pastores, R. D. Steiner, and R. Thadhani University of Washington Medical Center, Seattle, Washington Fabry disease is an X-linked lysosomal storage disease with primary manifestations of recurrent episodes of pain in the extremities, angiokeratomas, corneal dystrophy, episodic fevers, cardiac disease (cardiomyopathy, valve disease), and renal failure. In males symptoms often are present in adolescence. Females are often affected, although usually at later ages than their male relatives. Without treatment there is significant morbidity and mortality associated with this disease. Given the promising future of enzyme replacement therapy for Fabry disease, genetic counselors need increased awareness about this rare and potentially treatable condition. A multicenter working group developed recommendations for genetic counseling for Fabry disease by discussion through conference calls and electronic mailings. The participants included an individual with Fabry disease and founder of a Fabry disease patient advocacy group in the United States (JJ) and professionals with expertise in genetic counseling (RLB, KH, EO), medical genetics (GP, RDS), biochemical genetics (GMP, RDS), nephrology (RT), pediatrics (RDS, GMP), and internal medicine (RT). English literature was reviewed using MEDLINE, PubMed, and bibliographies of articles. These recommendations are U.S. Preventive Task Force Class III, and are based on clinical experience, descriptive studies, and reports of expert committees. We review a list of differential diagnoses to consider and an algorithm for genetic testing for these families. Specific genetic counseling issues in Fabry disease include the following: increased rates of depression, alcoholism, divorce, unemployment, and suicide; consideration of occupational therapy/counseling because of specific disease manifestations; fear of sexual relationships because of angiokeratomas; mistrust of health professionals because of years of misdiagnosis; psychological consequences related to uncertainty because of variation in phenotype; and issues of “preselection” for


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individuals who are not affected in a family. Ethical issues include the following: prenatal diagnosis for a potentially treatable condition; testing healthy at-risk minors; testing healthy siblings before kidney transplant; and issues of misattributed paternity. Genetic counselors can play a prominent role in identifying these patients and their at-risk relatives to provide appropriate genetic testing services and genetic counseling. Genetic counselors also can be central in enrolling these families in Fabry disease registries so that more can be learned about the clinical spectrum of Fabry disease. Prader–Willi Syndrome: Impact on Sibling Relationship Qualities∗ E. Burner, S. Heeger, J. Robinson, M. Warman, E. Eichler, S. Cassidy, and A. Matthews Case Western Reserve University, Cleveland, Ohio While the literature probing the impact of chronic illness on family systems and siblings specifically, continues to expand, there are no studies regarding the ways in which siblings are affected by living with a brother or sister with Prader– Willi syndrome (PWS). As an initial effort to investigate this specific situation, we focused on specific aspects of the sibling relationship hypothesized to either resemble or differ from the nature of sibling relationships involving developmental disability. Relevant demographic factors contributing to siblings’ feelings toward having a brother or sister with PWS were also investigated. A total of 61 participants, ages 10–46, were recruited from multiple sites, with all participants having at least one sibling with PWS. Siblings were asked to complete the Sibling Relationship Questionnaire (SRQ), as well as to respond to several open-ended questions aimed at exploring additional aspects of the sibling relationship. Previously published studies utilizing the SRQ comprised the comparison group for this study. Analyses of siblings’ responses on the SRQ revealed participants’ relationship with their PWS sib as being characterized by high levels of affection, low levels of intimacy, and slightly more power and status in the direction of the older healthy sibling. Interestingly, participants noted that their sibling relationship was more conflictual than that described in studies between siblings and brothers or sisters with a developmental disability. Perhaps, the stubborn, manipulative, and obsessive-compulsive behaviors that typify individuals with PWS may impact the level of conflict in the sibling relationship. While siblings reported that their mother showed slight partiality toward their brother or sister with PWS, they also indicated that there was either no difference in the amount of attention their father gave them or that their father treated them somewhat better compared to their brother or sister with PWS. The results suggest that these siblings may benefit from learning conflict-resolution skills as well as being encouraged to share their experiences with other siblings in similar situations. Furthermore, parents of these siblings may find it helpful to switch their traditionally circumscribed roles to balance the treatment and attention given to their children. The findings of this study also suggest that genetic counselors may provide additional assistance to ∗ Introduced

by Anne L. Matthews.


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these families by employing a more family-centered approach in dealing with PWS and incorporating the siblings’ needs into the coping strategies of the entire family. Postmortem Metabolic Screening Using Tandem Mass Spectrometry for Inherited Disorders of Metabolism in Cases of Unexplained Sudden Infant Death D. Chace, S. Beatty, J. DiPerna, B. Sgroi, K. Donahue, and E. Naylor Neo Gen Screening, Bridgeville, Pennsylvania Deaths due to inherited metabolic disorders remain undiagnosed because of nonspecific findings obtained from routine postmortem examination. The disorders are often classified as Sudden Infant Death Syndrome (SIDS). Analysis of dried blood spots using Tandem Mass Spectrometry (MS/MS) offers the potential to reveal several disorders of fatty acid oxidation for many deaths of unknown cause. Blood specimens obtained at autopsy and applied to filter paper were obtained from 7058 deceased infants from Medical Examiners throughout the United States and Canada. Acylcarnitine and amino acid metabolic profiles were obtained from each blood specimen using electrospray tandem mass spectrometry. Specialized interpretation schemes were used in the evaulation of normal and presumptive positive results for disorders of fatty, organic, and amino acid metabolism. Sixty-six postmortem specimens were highly presumptive for the diagnosis of a metabolic disorder. These included 23 cases of MCAD deficiency, 9 cases of VLCAD deficiency, 8 cases of MADD, 6 cases of CPT II/Translocase deficiencies, 4 cases each of severe carnitine deficiency and Isovaleric Acidemia/2-Methylbutyryl CoA dehydrogenase deficiency, 3 cases each of GA-I and other organic acid disorders, 4 cases of LCHAD/TFP deficiency, and 1 case each of SCHAD and MSUD. These results demonstrate the importance of postmortem metabolic screening in the investigation of unexplained death in infants and children. The data also provide important public health information for estimation of the number of infant deaths due to inborn errors of metabolism. This manner of screening should be considered as a routine service provided by medical examiners and pathologists in the investigation of unexpected/unknown infant and child death. Genotype-Phenotype Correlation in Females Referred for MECP2 Analysis for Rett Syndrome∗ E. Cook, M. Friez, A. Toburen, K. Corning, and R. Best University of South Carolina School of Medicine, Columbia, South Carolina Purpose: To determine if there are phenotypic differences in females with suspected Rett syndrome who have a MECP2 mutation versus those who do not have an identifiable MECP2 mutation. Methods: A questionnaire was developed and mailed to the referring clinician for all samples submitted for MECP2 analysis at the Greenwood Genetic Center during a 6-month period. The results from these questionnaires were analyzed for statistically significant differences in ∗ Introduced

by Amy Toburen.


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phenotype between the females with and without MECP2 mutations. Results: Fifty females were included in the analysis. The characteristics most significantly associated with MECP2 mutations identified in this study include the achievement of milestones at the appropriate ages, and more specifically the age at which first words are spoken, loss of purposeful hand movements, and spasticity. Additionally, other characteristics approached statistical significance. These included birth head circumference, respiratory dysfunction, speech loss, stereotypic hand movement, facial dysmorphia, and rolling over, sitting alone, and walking at the appropriate ages. Conclusion: Phenotypic differences between females with suspected Rett syndrome with and without MECP2 mutations exist and this study further highlights the extremely broad phenotypic spectrum of Rett syndrome. Knowledge and Attitudes of Primary Caregivers of Children Affected With PKU∗ S. Grantner, S. Petzel, D. Markowitz, S. Berry, M. McGue, and B. LeRoy University of Minnesota, Minneapolis, Minnesota Phenylketonuria (PKU) is an inherited condition of metabolism requiring a restricted low protein diet supplemented with a formula to deter the build up of phenylalanine and prevent mental retardation and additional neurological problems. Several studies have evaluated the difficulties associated with maintaining this diet and have looked for factors influencing successful dietary adherence. However, few studies have considered the personal experiences of families dealing with PKU and the impact of the condition on families. To obtain information from PKU families about their understanding of PKU and their attitudes toward the many issues inherent to the condition, we developed and piloted a semistructured telephone interview to administer to the primary caregivers of PKU children. We invited 59 families from the Fairview University PKU Clinic in Minneapolis, Minnesota, with school age children between the ages of 5 and 18 years to participate in this study. Thirty families with a total of 32 school age children (19 female and 13 male) diagnosed with PKU agreed to participate. This study reports descriptive characteristics of these families as well as the knowledge and attitudes of the primary caregivers. Results from the questions designed to assess basic knowledge of PKU indicate that participants have a satisfactory understanding of the condition with 17/30 scoring 100% correct answers, 11/30 scoring 80%, and 2/30 scoring 60%. Most primary caregivers reported feelings of devastation and fear upon first learning of their child’s diagnosis. However, they are currently able to attribute positive meaning to their parenting efforts, describe successful ways to influence their child with PKU and discuss ways in which they work together with and have become closer to their families. The majority of caregivers with female children reported strong concern about maternal PKU and the risk to their grandchildren. Information on what caregivers considered most helpful to cope with PKU, their most rewarding and challenging experiences, and common associations with negative issues were also elucidated. Furthermore, some ∗ Introduced

by Bonnie LeRoy.


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families offered recommendations to improve services provided by their PKU clinic. This information has significance for use in focusing and strengthening genetic counseling educational efforts with PKU families. How Carriers of Duchenne Muscular Dystrophy Want to be Informed of Their Risk for Cardiomyopathy∗ C. Honeywell, V. Harris, C. Shuman, and D. Biggar The University of Toronto and The Hospital For Sick Children, Toronto, Ontario, Canada Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition that affects approximately 1 in 3300 boys. With the exception of increased serum CK levels and mild muscle weakness, most female carriers are clinically well. However, recent literature suggests that carrier females are at a significantly increased risk for developing cardiomyopathy. This paper reports the current awareness of the risk of cardiomyopathy in a population of mothers (N = 22) of boys with DMD who are carriers, noncarriers, and of carrier status unknown. Data were collected using a structured interview format. Four of 22 participants were aware of the risk for cardiomyopathy. Ten of 22 mothers preferred to be informed at the time of their son’s diagnosis, whereas 11 of the 22 mothers preferred to be informed an average of 1 year after their son’s diagnosis. Mothers’ reactions were generally calm and reflected no surprise to slight surprise at the cardiomyopathy information revealed. These findings suggest that mothers of boys with DMD prefer to be informed of the risk for cardiomyopathy promptly by a familiar health professional. In addition to the present findings, further research will aid in developing a model to guide individual and family counseling for health risk disclosure. A Qualitative Analysis of Parental Attitudes Towards Genetic Testing for Deafness and the Newborn Hearing Screening Program∗∗ K. Houde Ng, L. Holmes, B. Lerner, and H. Rehm Brandeis University, Waltham, Massachusetts One in 1,000 children are born with severe to profound deafness and clinical genetic testing for mutations in the GJB2 gene can detect the largest percentage of autosomal recessive deafness. In 1998, Massachusetts implemented a universal newborn hearing screening (UNHS) program. Newborns that do not pass the initial hearing screening in their respective birthing hospitals are referred for diagnostic audiological evaluation. One such site that performs diagnostic audiological evaluations is The Children’s Hospital, Boston. Given that all newborns are being screened in Massachusetts, we asked parents of newborns if they would consider genetic testing for deafness to determine the cause of their infant’s hearing loss. We developed a survey for this newly identified parent group and asked parents ∗ Introduced by Cheryl Shuman. ∗∗ Introduced by Barbara Lerner.


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about their attitudes toward genetic testing for deafness. In particular, we asked about when genetic testing for deafness should be offered, and would they test their own child. We also asked parents to give their opinions about the UNHS process and suggest recommendations to improve it. Eleven of 18 parents agreed to participate in the survey. The results indicated parents did not overwhelmingly support offering genetic testing for deafness in a prenatal setting (4/11) but twice as many parents favored offering genetic testing at the time the newborn is referred for a diagnostic audiological evaluation (8/11). Seven of the 11 parents would consider genetic testing for their children owing to a strong desire to assign a cause for their child’s deafness. Regarding UNHS, responses suggested that the personnel administering the test needed further training regarding the interpretation of results, three parents experienced increased anxiety while waiting for a diagnostic evaluation, and several parents expressed a desire for more information regarding the potential diagnosis of hearing loss at the time of referral. This small investigation suggests (1) further study is needed to examine the role of genetic testing for deafness, (2) more information needs to be made available to parents at the time of referral from UNHS, and (3) there needs to be an interface between the pediatrician and family at the time of referral. Parenting Adult Children With Special Needs∗ N. Johnson, J. Gamm, J. Peredo, and J. Sparrin Johns Hopkins University, Baltimore, Maryland The majority of the current literature about adults with developmental or mental retardation having special needs is focused around health problems and survival. There is little information regarding long-term qualitative life issues about parenting children with special needs. The objective of this study was to explore the experiences of parents who have adult children with special needs. The specific areas of interest were (1) perceived parental responsibilities, (2) benefits and challenges, and (3) sources of support. Obtaining this information was intended to enhance the current literature on adults with special needs, and to be useful for genetic counselors in both the prenatal and pediatric settings. Participants were recruited through a local special religious education class. This qualitative study utilized several different methods, including a focus group, direct observations (N = 4), one-on-one interviews (N = 8), and a free listing exercise (N = 10). Parental responsibilities were described as “training,” discipline, and teaching “life skills.” Parents reported that while their responsibilities are constant, the nature and concerns surrounding these responsibilities changed as their child reached adulthood. Parental challenges included preparing for the future, meeting physical and emotional demands, and balancing their concerns for their child’s safety with the desire for independence. Benefits gained from parenting included a positive effect on the family, increased disability awareness, and valuable life lessons. Parents gained support through other parents, health professionals, personal faith, and community groups. Additionally, participants spoke about the experience of ∗ Introduced

by Barbara Biesecker.


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the diagnosis and advice they would give to other parents and health care professionals. In summary, the data suggests that the future well-being of the special needs adult child is of central importance to their parents. In addition, the results highlight the importance of support systems that are both extensive and diverse. Facilitating discussions with parents about the future and the numerous support systems that exist to assist them is an important role for genetic counselors. Parents’ interactions with health care providers are often long-lasting and appear instrumental in shaping their impression of the health care system. Genetic counselors can integrate the advice put forth by parents to influence their own participation in the diagnostic and management experiences. This study is a first step into gaining a better understanding of the needs of parents with adult special needs children. Valproic Acid Embryopathy: Report of Two Siblings With Further Expansion of the Phenotypic Abnormalities and a Review of the Literature C. Kozma The Child Development Center/Department of Pediatrics, Georgetown University Medical Center, Washington, District of Columbia Fetal Valproate syndrome (FVS) results from prenatal exposure to Valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this report, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978 to 2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities, including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. Neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. While 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review, especially the developmental outcome, should be added to the teratogenic risk, which arises in association with the use of VPA during pregnancy. Understanding Architecture: Evaluating Maternal and Fetal Risk Factors for Spina Bifida L. E. Mitchell, K. Hoess, S. Barbaux, M. McDonnell, and A. S. Whitehead University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania


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The term genetic architecture has been used to describe the full range of genetic effects on a trait. For many common birth defects, this may include both fetal and maternal genetic effects, the latter being “genetic” with respect to the mother but “environmental” with respect to the fetus. The classic example of such a maternal genetic effect in humans is the teratogenicity of untreated maternal phenylketonuria. However, identification of the protective effect of periconceptional folic acid supplementation has led to speculation that the risk of neural tube defects may be influenced by maternal genotypes for folate-related genes. A complete understanding of the genetic architecture of neural tube defects is, therefore, likely to require the evaluation of both fetal and maternal genotypic effects. Until recently, the prospects of identifying fetal, much less maternal, genes involved in the etiology of birth defects were quite low and relatively little work had been done in this area. The Spina Bifida Research Resource has been specifically designed to evaluate hypotheses regarding both fetal and maternal genotypic effects as risk factors for spina bifida. The sampling scheme for this study includes collection of DNA from family trios consisting of an affected individual and his/her parents. Application of the transmission disequilibrium test (TDT) to genotype data from such trios provides an assessment of fetal genotypic effects. In addition, sample collection is extended to maternal grandparents, who along with the mothers of the affected individuals provide a second set of family trios. Application of the TDT to genotype data from these trios provides an assessment of maternal genotypic effects. Analyses of data from the first 120 families enrolled in this study support the hypothesis that both fetal and maternal genotypic effects are important determinants of spina bifida risk. Specifically, these data indicate that fetal genotype at the T-locus (or at a gene with which it is in linkage disequilbrium) and maternal genotype at the methionine synthase reductase locus (or at a gene with which it is in linkage disequilbrium) are both significantly related to disease risk ( p = 0.04 and p = 0.02, respectively). These results highlight the importance of assessing both fetal and maternal genotypic effects, and provide the first direct evidence that maternal, as well as fetal, genetic effects play an important role in the etiology of spina bifida. The Impact of Race on Coping and Social Support Among Parents of Children With Developmental Disabilities∗ S. Parmar, H. Saal, N. Warren, and L. Hoechstetter University of Cincinnati, Cincinnati, Ohio Genetic conditions are often associated with developmental disabilities. When a child has such a condition, it may create stress for the entire family. Previous studies have shown that parental coping in response to stressors impacts family functioning and that social support can promote successful coping. When under stress, African Americans utilize different coping strategies and support networks than Caucasians, yet few studies have addressed these differences in the context of having a child with a genetic condition and/or developmental delay ∗ Introduced

by Leah Hoechstetter.


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(Social Work, 1995; 40:240–248; Am J Comm Psych, 1984; 12:629-644). The purpose of this study is to assess the impact of race upon parental coping strategies and to identify support resources among parents of children with developmental disabilities. We hypothesize that there is a significant difference in both coping scores and support resources between urban African American and urban Caucasian parents of children with developmental disabilities. To assess parental coping and social support, we conducted a cross-sectional study of low income African American and Caucasian parents of children diagnosed with developmental disabilities. Data were collected in the form of telephone interviews, which contained 3 sections. In Section 1, we obtained demographic data. In Section 2, we used the COPE inventory, which measures a variety of coping strategies using 15 independent subscales, to obtain data on overall coping. In Section 3, we used the Inventory of Social Support, which asks participants to identify individuals who provide them with support. At present we have sent 52 letters of recruitment. Data collection and analysis are still ongoing; however, preliminary data from the first 24 interviews suggest that the two groups may have different approaches to coping. African Americans have higher COPE scores in Self-Distraction (5.21 vs. 4.40) and Religion (6.21 vs. 5.40). Caucasians have higher COPE scores in Active Coping (7.90 vs. 6.07) and Planning (7.90 vs. 6.57). In addition, a larger percentage of Caucasians (100%) reported receiving assistance from formal supports (e.g. doctors, caseworkers, other professionals) during the past month than African Americans (78%), suggesting that the groups utilize different types of supports. By considering these differences when counseling parents of children who are seen in genetics clinics, genetic counselors may be able to identify and offer more acceptable interventions to meet parents’ psychosocial needs. Speech Characteristics in Children With Kabuki Syndrome With and Without Cleft Lip and/or Cleft Palate∗ S. Poulin, C. Stadter, and E. Wulfsberg University of Maryland, Baltimore, Baltimore, Maryland Kabuki syndrome is a multiple malformation syndrome characterized by five cardinal manifestations. These include a characteristic face, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation, and postnatal growth deficiency. Additional commonly reported anomalies include cleft lip and/or palate, congenital heart defects, and early breast development in girls. Kabuki syndrome is suspected to be an autosomal dominant disorder with most cases arising from new mutations. We studied seven children with Kabuki syndrome, four with cleft lip and/or cleft palate, and three without cleft lip or cleft palate to investigate whether there are any characteristic speech abnormalities associated with the syndrome. Speech consultations were performed by a speech pathologist experienced in the evaluation of children with cleft lip and/or cleft palate. The consultations consisted of having each child say a number of specific words and phrases and engage in conversation with the speech pathologist. Each child’s speech was characterized with regard to articulation (types of errors and ∗ Introduced

by Carmella Stadter.


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intelligibility), pitch (high or low), loudness/projection (volume of speech), and prosody (general quality of speech that combines rate and inflection). The results were compared between the children with Kabuki syndrome with and without cleft lip and/or cleft palate and between males and females to determine whether or not cleft-dependent or sex-dependent speech characteristics exist. All seven patients studied were involved with some speech services, and all had some articulation errors, which appeared to be due to a mechanical or motor problem and were not a direct result of anterior dental malocclusion or a cleft lip or palate. Many children with Kabuki syndrome who evidence reduced gross and fine motor skills seem to manifest the same reduced motor power and precision in their articulation skills. Pitch, loudness/projection, and prosody appeared to be age-dependent in two females followed in serial evaluations, in that their speech characteristics did not change over time and what was appropriate at an early age became inappropriate as they got older. We were unable to determine whether or not this was true for males since none of the males in our study were followed for enough years. No sex-dependent or cleft-dependent speech characteristics were observed. These characteristics are a new feature that can be added to the extensive list of clinic features associated with this syndrome and can aid in tailoring treatment and speech–language remediation. Parental Reactions to Genetic Testing Results M. Roche, A. Aylsworth, W. Lachicotte, D. Bailey, and D. Skinner University of North Carolina-Chapel Hill, Chapel Hill, North Carolina The interactions between genetic professionals and families referred for evaluation and counseling have been explored extensively in the genetic counseling literature. Structured interviews have allowed parents and professionals to describe, retrospectively, the complex interactions that occur during a session. For many families, a specific diagnosis cannot be made, limiting the availability of prognostic and recurrence risk information. A family’s interpretation of the usefulness of genetic testing contributes to their perception of the value of their experience. To study how families interpret genetic information communicated during a genetic evaluation and counseling visit, we have begun a prospective project designed to recruit 100 newly referred families of differing cultural backgrounds. Over 58 families (75% Caucasian, 17% African American, 7% Latinos, and 1% Native Americans), who have visited the Pediatric Genetics and Metabolism Clinic at UNC-CH, are currently enrolled. The clinic serves families with a wide range of genetic disorders, the majority of whom have a child with unexplained developmental delay and/or birth defects. Two sets of data have been collected for 40 families to date: observation of the initial clinic visit and the first of four semistructured follow-up interviews scheduled to occur over a 2-year period. Genetic testing was performed in approximately 65% of families. The first interview occurred after the results were communicated. Families were specifically asked about their reactions to these results. Preliminary analyses indicate that, although families had mixed feelings, they uniformly described the experience of genetic testing as a positive outcome of their clinic visit, irrespective of the results. Most families recognized the limitations of a negative result although few were


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able to accurately summarize details of the testing. Families valued the ability to “rule things out” but also reported being “disappointed” that there was “nothing to blame”; most stated that they would continue to look for answers. Families who received a specific diagnosis also reported mixed reactions. It allowed parents to focus on obtaining appropriate services for their child and support for themselves, but they were also saddened by the permanent nature of the condition and concerned about implications for relatives. From our preliminary observations, we conclude that families experience mixed emotions following the communication of genetic testing results, regardless of whether they are diagnostic or negative. Recognition of these reactions by health professionals could enhance this communication process. Eating Disorders May Be Familial: Results From a Survey of Callers to a National Hotline for Eating Disorders and Genetic Counseling Implications A. Schechtman and J. Rissman National Association of Anorexia Nervosa and Associated Disorders, Highland Park, Illinois Eating disorders, including anorexia nervosa (self-starvation), bulimia (binge–purge syndrome), and binge eating, are rampant in our society, affecting an estimated 8 million people in America. All segments of society, young and old, rich and poor, both sexes, and all races are impacted by eating disorders. The causes of eating disorders have not been thoroughly delineated; however, recent studies suggest that eating disorders may run in families and that specific genes working together with environmental factors may be responsible for producing an increased risk for developing an eating disorder. Studies of individuals with eating disorders have found that 4% of their female relatives had anorexia or bulimia, eight times the rate of eating disorders found in the general population. Familial risks are thought to be in the range of 7–25% for relatives of probands with anorexia and bulimia, compared with 2.1–3.4% in controls. Family members of females suffering from anorexia or bulimia develop eating disorders at rates up to 12.3 times higher than those without family members with eating disorders, suggesting a strong genetic basis for eating disorders. The National Association of Anorexia Nervosa and Associated Disorders (ANAD) provides a national hotline for individuals to access counseling and information about eating disorders. Each caller is asked specific questions about their eating disorder, demography, and family history of eating disorders, obesity, and mental illness. This eating disorder hotline provides a useful source to analyze whether callers to an eating disorders hotline reveal similar histories of eating disorders in their families as has been reported in the literature. Data was collected over a 2-month period involving 760 callers. Individuals with the eating disorders ranged in age from 6.5 to 62 years. Results indicate that 20.7% responded that there was an eating disorder in their family; 20.9 stated that obesity was present; and 5.4% reported the occurrence of mental illness in their family. These results support the findings that there is an increased incidence of eating disorders in the families of individuals suffering from these illnesses. As more specific genes associated with eating disorders are


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identified and familial risks ascertained, there will be an increased need for genetic counseling of those families at risk. The Expressed Characteristics of Personal Relationships of Young Adults With Down Syndrome∗ A. Smith, C. Christianson, N. Warren, G. Lemasters, and B. Patterson University of Cincinnati, Cincinnati, Ohio Young adults with Down syndrome are becoming more integrated into the community; however, transitions from school to the community can threaten their social stability and relationships with others. Specifically, friendships and dating relationships may have trouble surviving the changes experienced by young adults. To assess these relationships, structured interviews were conducted with 14 young adults with Down syndrome, between the ages of 18 and 30. The list of questions was field-tested and revisions were made prior to the interviews. Initially, participants were asked to define friendship, and their definitions ranged from going out together to being respectful. On average, participants provided information on three friends. The most frequent place to make friends was at school, followed by sporting events and social clubs. Many friendships terminated because one or both members of the relationship graduated or because of personality faults in the friend, such as being bossy or mean. Ten of the 14 young adults in this study reported having a boyfriend or girlfriend. Of the fourteen, 11 want to get married and 9 would like to become parents. Individuals were more successful answering questions about their boyfriends/girlfriends than answering similar questions about their friends. The interview questions that were most difficult to answer were those starting with “When” or “How,” such as “When did you meet her?” and “How often do you see this friend?” Future interviews with this population should avoid these types of questions. If friendships are beginning and ending in school then the young adults need other avenues to meet friends. Sporting activities and social clubs for individuals with disabilities provided opportunities to make friends outside of school and may be events that communities can organize to foster new relationships. A desire to fit into the community is reinforced by the fact that young adults want to be married and have children. The ability to recall information on boyfriends/girlfriends better than that on friends demonstrates the importance of love relationships in the lives of young adults with Down syndrome. This study also demonstrated that young adults still rely on their parents for their emotional needs, which may become an issue as the parents age. If individuals can maintain friendships long-term they may decrease the emotional reliance on their parents. The Effectiveness of NTBC for Improving the Natural History of Tyrosinemia Type I L. Sniderman King and C. R. Scott University of Washington, Seattle, Washington ∗ Introduced

by Carol Christianson.


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Tyrosinemia I is a childhood disease that causes liver failure, neurologic crises, hepatocarcinoma, and death by 10 years of age. Previous interventions have relied on dietary restriction of phenylalanine and tyrosine, or liver transplantation. In 1992 NTBC [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione] was introduced as a potential therapeutic agent. NTBC inhibits 4-OH-phenylpyruvate dioxygenase, an enzyme proximal to fumarylacetoacetate hydrolase (FAH), the enzyme deficient in tyrosinemia-I. By the mechanism of “metabolic blockade,” NTBC inhibits the synthesis of succinylacetone (SA), a byproduct that occurs from FAH deficiency, and should prevent the toxic effects of SA. Fifty-four patients have been identified in the United States and have been treated with NTBC at ∼1 mg/kg/day. The clinical response to NTBC has been encouraging. NTBC eliminates SA from plasma and urine in 2–7 days. Levels of alpha-fetoprotein of 40,000–450,000 µg/L at diagnosis decrease to q13::p11->qter). This anomaly most likely arose during the 4-strand stage of Meiosis I. Parental chromosomes were requested and found to be normal. At 11/2 months of age, DM partially held his head, was beginning to reach for objects and gripping, and tracked well with his eyes. He had abundant scalp hair, a slightly small chin, a wide nasal bridge, nostril asymmetry, and low-set, simple ears. DM’s left fifth finger was shorter than the right, with a rudimentary nail present. There were single palmar creases on both hands, and the great toes appeared slightly broad. There was no family history of cleft lip/palate. At l6 months of age, DM’s cleft palate was repaired and he is reportedly developmentally appropriate. He has some features consistent with Tetrasomy 9p, including ear malformations, hypoplastic nails and digits, and palatal abnormalities. His ears and finger anomalies were familial. The duplication of 9p is between two centromeres that show apparent inactivation and thus may have little phenotypic effect. To the best of our knowledge, this is the first report of a constitutional nonmosaic stable tetracentromeric chromosome. Affected Parents With the 22q11.2 Deletion: The Need for Ongoing, and Basic, Educational, Health, and Supportive Counseling∗ M. Tonnesen, D. McDonald-McGinn, K. Valverde, and E. Zackai Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania The 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, Velocardiofacial syndrome, conotruncal anomaly face syndrome, and some cases of autosomal dominant Opitz/GBBB syndrome and Cayler cardiofacial syndrome. The prevalence of this disorder has been reported as 1/4000–1/10,000 live births. Approximately 10% of cases are familial, with the majority of parents identified only following the diagnosis in a more severely affected child. Although wide variability has been reported, the vast majority of patients have a learning disability or borderline intelligence making parents affected with the 22q11.2 deletion somewhat similar functionally to adults with borderline-tolow average intelligence. With this in mind, we developed a written questionnaire to assess differences in parental medical knowledge and compliance between familial and de novo cases of the 22q11.2 deletion. Following genetic counseling, 20 sets of affected parents and 50 of unaffected parents identified from our existing cohort (N = 370) received questionnaires. Only 27% of parents affected with the deletion correctly reported their recurrence risk as compared with 50% of unaffected parents. Similarly, 27% of parents with the deletion understood their child’s recurrence risk compared with 90% of unaffected parents. Only 36% of affected parents believed that they were very well or moderately educated about the 22q11.2 deletion as compared with 78% of unaffected parents. Regarding medical ∗ Introduced

by Donna M. McDonald-McGinn.


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compliance, we found a noteworthy lack of ongoing subspecialty care for children with familial cases of the 22q11.2 deletion as compared with nonfamilial cases. Many had never seen immunology (60%), child psychology (50%), otolaryngology (40%), or plastic surgery (20%), compared with 13, 3, 5, and 8% of de novo cases, respectively. In contrast, affected parents were more likely to report a need for ongoing emotional support. These findings suggest affected parents are less knowledgeable about the deletion and often appear to have greater difficulties following through on specialty appointment recommendations. Because of this population’s similarity to women with other forms of learning differences or borderline intelligence, it may be necessary to redirect the traditional genetic counseling approach to a more psychosocial focus (Finucane, 1998). Awareness of these facts should allow genetic counselors to better communicate with this underserved population. Osteogenesis Imperfecta: Determination of Psychological Adjustment∗ L. Wright, J. Fletcher, D. Johnston, J. Mastrobattista, C. Wicklund, and J. Hecht University of Texas Health Science Center at Houston, Texas Osteogenesis Imperfecta (OI) is a disorder of connective tissue that affects 1/10,000–1/60,000 individuals across all ethnic groups. OI is characterized by varying degrees of bone fragility ranging from perinatal death to osteopenia. Mutations in Type I collagen cause the bone, skin, ligament, tooth, and hearing pathology associated with this disorder. Research suggests that children with chronic conditions are at an increased risk for psychosocial adjustment problems, but no such studies have been done in the OI patient population. Individuals with OI have many psychosocial issues to deal with throughout their lives that may vary depending on the severity of the disease and how well their family accepts and supports them. To determine the psychosocial adjustment of individuals with OI, a questionnaire was developed that included demographic information and the Child Behavior Checklist (CBCL). The CBCL is a standardized questionnaire for children between the ages of 4 and 16. It assesses parental perceptions of a child’s adjustment. Patients with OI either completed a questionnaire at their clinic visit or returned the questionnaire by mail. The CBCL was completed by 39 individuals with OI. The results were compared to data collected on 78 individuals with spina bifida and 16 individuals with hemophilia. All groups matched in terms of age and ethnicity. Overall all groups were found to be adjusted, but there were significant differences between the groups on each scale of the CBCL. This finding contrasts previous studies, which indicated no significant differences were determined between the chronic illnesses in terms of psychosocial adjustment. Our study finds that individuals with spina bifida had the most behavior problems while individuals with hemophilia had the least behavior problems. Individuals with OI had mean scores in the middle but are well adjusted despite their significant physical impairments. ∗ Introduced

by Jacqueline Hecht.


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October 22, 2001

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VII. PRENATAL First-Trimester Screening: Patients’ and Physicians’ Opinions M. L. Beecroft, P. T. Mohide, G. White, M. Huggins, E. Shaw, and M. J. M. Nowaczyk Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada Objectives: To document the opinions of patients and physicians involved in a pilot project of first-trimester screening (FIRST) regarding its role and relevance. Background and patient population: FIRST (also known as BUN – biochemical ultrasound nuchal) is a 2-year, multicenter, international study sponsored by the National Institutes of Child and Maternal Health to detect Down syndrome (DS) in fetuses between 10 and 14 weeks of gestation. FIRST combines the measurement of PAPP-A, free B-hCG and nuchal translucency thickness in singleton pregnancies, which are not at increased risk for chromosomal abnormalities. Screen-positive women (risk of DS > 1:270) were seen in the Regional Prenatal Diagnosis Service, and were offered choices for further testing, including midtrimester amniocentesis (15 weeks or greater), the EATA study (randomized clinical trial of amniocentesis and transabdominal CVS at 77–104 days gestation), midtrimester triple serum screening, detailed anatomic ultrasound, or newborn assessment. Women in FIRST were asked to participate in the present study. Methods: Participants were sent a questionnaire and then contacted to complete a structured telephone interview regarding their experiences with FIRST and their feelings about future screening. Data include patient demographics, FIRST experiences, attitudes, and values. A 5-point Likert scale was used. Physicians and midwives whose patients had participated in FIRST were also interviewed. Results: Two hundred and four of the 205 FIRST participants and 38 physicians and midwives completed interviews. Hundred and thirty-one women (63.9%) were over 35 years of age, and two-thirds had delivered. Two hundred women (98.0%) were satisfied with their decision to have FIRST, and 194 (95.1%) would choose to have FIRST again in another pregnancy. Similarly, 36 caregivers (94.7%) would continue offering FIRST if it were available. Hundred and ninety-eight women (97.1%) and 31 caregivers (81.6%) agreed that FIRST should be a choice for all women, and that the costs should be covered by government health care funding (194 women (95.1%) and 27 caregivers (71%)). Hundred and seven women (52.5%) were willing to pay more than $100 and 46 women (22.4%) would pay over Cdn$301 for FIRST. Only 18 women (8.8%) were not willing to pay for FIRST. Conclusions: A large majority of women and caregivers were satisfied with their experiences with first trimester screening, and would continue to use this screening in the future if it becomes widely available. Correlation of Risk Assignment With Acceptance of Invasive Prenatal Testing S. Chenevert and J. Sawyer Genzyme Genetics, Dallas, Texas


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October 22, 2001

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We performed a retrospective chart review of 930 randomly selected prenatal cases seen by Genzyme Genetics’ counselors within the month of May 2000. The goal of the project was to assess acceptance rates of invasive prenatal tests offered based on risk assignment and indications that influence risk assignment. A unique feature of this study is that Genzyme Genetic Counselors are provided with Practice Guidelines that guide each counselor to assessing accurate and consistent risks for patients across the country; therefore, the bias of who performs the counseling can be reduced. In addition, the database overcomes the constraints of previous studies regarding acceptance rates that were limited by sample size and lack of patient diversity. Of the 930 patients analyzed, 828 were offered invasive testing and 452 (54.6%) accepted testing. We then measured the acceptance of testing based on risk assigned. Patients that were assigned a risk less than 1/200 of an abnormal result had a 35% acceptance rate of testing and were more likely to have had an abnormal maternal serum screen result as the indication for referral. Patients who were quoted a risk in the range of 1/99–1/50 had a 62% acceptance rate of testing. Likewise, there was a 62% acceptance rate for the group of patients whose risk was greater than 1/49. While it is intuitive to assume that the greater the risk the more likely a patient is to accept testing, the correlation of risk assignment and reason for risk with acceptance of invasive testing demonstrates a need for consistent risk assignment and an accurate explanation of risk to the patient. Our results strengthen the need for patients to undergo genetic counseling prior to invasive testing procedures. We will demonstrate that this database provides important statistics on the general acceptance rate of invasive procedures and influencing factors. Monochorionic Twins With Discordant Sex in a Triplet Pregnancy J. A. Claus, R. A. Quintero, and B. G. Kousseff USF Regional Genetics Program, Tampa, Florida We report an IVF (with two-embryo transfer) triplet pregnancy in a 30-year-old primigravida with sex-discordant monochorionic diamniotic twins and fetal demise of Triplet A. On targeted sonogram, Triplet B showed hydrops and evidence of a micropenis. Aspiration of the cystic hygroma for chromosome analysis and to provide space for the ligation of the umbilical cord was done. Endoscopy confirmed the presence of abnormal genitalia, suggestive of micropenis. The umbilical cord ligation was performed to prevent adverse effects of the spontaneous demise of Triplet B on the health of Triplet C. The karyotype was 45,X. Amniocentesis of Triplet C showed 46,XY. Triplet C developed hydrops and a month later was miscarried at gestation 22 weeks. A pathology report described monochorionic triamniotic triplet placentation. DNA testing for zygosity was not performed. Sex discordance has been reported in twelve articles. Of these, two were based on prenatal diagnosis. It is likely that the discordance was either due to postzygotic nondisjunction or anaphase lag, before or during twinning. This report emphasizes the fact that suspected monozygosity does not exclude karyotyping both sacs when anomalies are noted.


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October 22, 2001

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489

Prenatal Exposure to Ecstasy in a Fetus With Multiple Anomalies D. Conrad, V. Shashi, and J. Rosnes Wake Forest University School of Medicine, Winston-Salem, North Carolina In the past decade, the recreational use of Ecstasy (methylenedioxymethamphetamine or MDMA) has increased as a party drug because of the euphoric and stimulant effects it produces. We present a case of a patient who used MDMA recreationally during embryogenesis and delivered a fetus with multiple anomalies. A.S., an 18-year-old primigravid Caucasian woman, at 17 weeks gestation, was found on ultrasound examination to have a fetus with a large frontal encephalocele, unilateral cleft lip, and absent lower leg. A.S. was forthcoming of her single use of Ecstasy and occasional tobacco use but denied any other drug or alcohol use. Amniocentesis revealed normal male chromosomes and normal amniotic fluid AFP. A.S. elected for termination of pregnancy and consented to autopsy. At the time of autopsy, in addition to confirming the presence of the anomalies prenatally detected, we found limb reduction defects involving the right hand and the single foot. A diagnosis of amniotic bands was considered, but there were no constriction rings in association with the reduction defects or elsewhere. We thus believe that the anomalies seen in the fetus are related to the MDMA exposure and could have been caused by a vascular disruption. The use of Ecstasy occurred temporally at 3–4 weeks gestation, which is a critical time in fetal development. In animal studies it has been noted that MDMA crosses the placenta readily and is found to have longer half-life in the fetal system. MDMA has also been shown to cause disruption of uterine blood flow in sheep. Other similar amphetamines have been shown to cause fetal anomalies such as exencephaly, orofacial clefts, and limb reduction defects. Thus, although direct causation cannot be proven, we believe that the fetal anomalies in our case are due to maternal exposure to MDMA. This association could be further strengthened if heritable coagulopathies as a cause of vascular disruption could be excluded. To date the patient has declined coagulopathy testing. Since Ecstasy is a recreational drug used primarily by young people, it is likely to be ingested by women of childbearing age. Teratogenic effects from MDMA exposure can occur early in embryogenesis, well before a woman may be aware of a pregnancy. Thus, a complete teratogenic history should be obtained, especially in the presence of similar fetal anomalies. Further study is necessary to better understand the risks associated with maternal MDMA exposure. Fragile X Carrier Testing Acceptance in the Prenatal Setting A. Cronister, D. Ramsey, Y. Furman, and S. Bhatt Genzyme Genetics, Phoenix, Arizona The American College of Medical Genetics policy statement, Fragile X Syndrome: Diagnostic and Carrier Testing (1994) and the National Society of Genetic Counselors Fragile X Syndrome Genetic Counseling Recommendations (2000) state that individuals with a family history of fragile X syndrome or mental retardation (MR) of unknown etiology should be considered for fragile X carrier


490

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testing. Within Genzyme Genetics Clinical Services, internally developed practice guidelines support this recommendation and assist our genetic counselors in the identification and consistent management of at-risk individuals. The purpose of this study was to evaluate the acceptance rate of fragile X carrier testing among our prenatal genetic counseling population. As part of the evaluation, we have reviewed 12270 charts from individuals seen between September 2000 and April 2001. Fragile X carrier testing was discussed during 455 counseling sessions (3.71% of referrals). Significant histories that prompted fragile X carrier test discussion included MR of unknown etiology, autism, developmental delay, and premature ovarian failure. The majority of patients were referred for advanced maternal age or positive multiple marker screening (51 and 16%, respectively). Seventy patients (15%) were referred because of a positive family history of MR of unknown etiology, autism, developmental delay, or learning disability. Eight patients (2%) were referred for a known family history of fragile X syndrome. Twenty-nine percent of all individuals who were offered carrier testing accepted, 48% declined, 2% had testing performed previously, and 21% were undecided at the time of counseling. Acceptance rates did vary by referral indication. Not surprisingly, testing acceptance was highest among individuals referred for a family history of fragile X syndrome. Acceptance rates were lowest among individuals referred for a positive multiple marker screen. Development of a Clinical Computer System to Support a National Genetic Counseling Program D. Cutillo, N. Nakata, A. Cronister, V. Weinblatt, D. Ramsey, and A. Donnenfeld Genzyme Genetics, Philadelphia, Pennsylvania To support the objective of a high quality of service in a large prenatal genetic counseling (GC) program, a clinical computer system was developed to promote consistency in data collection of the prenatal GC session, and in the generation of the genetic counseling report. Fifty-five active candidate/board-certified genetic counselors from Genzyme Genetics, working in 13 states, entered data on 7,551 patients from March through May 2001. Each genetic counselor was issued a laptop computer to facilitate data entry. Information gathered on each patient includes, but is not limited to, demographic data, referral indication, ethnicity, exposures, pregnancy info, family history, relevant test results, testing options offered, procedure options offered, and patient decisions regarding testing and procedure options. This data entry enables the genetic counselor to construct an accurate risk assessment in the clinical computer system. The genetic risk assessment automatically correlates with approved medical comments (fragments), and a report is generated by the computer system. All fragments are approved by a team of board-certified medical geneticists. The four most common primary indications for prenatal genetic counseling, based on this data collection, were maternal age (>35 years at edc) (53.7%), abnormal multiple marker screening (23.1%), family history of a birth defect, mental retardation, or a genetic disorder (13.3%), and abnormal ultrasound (4.2%). The mean maternal age of patients was 32 years (range 15–48 years).


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October 22, 2001

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The most common family histories identified in a first-, second-, or third-degree relative were Down Syndrome or mental retardation (etiology unknown) (10.8%), and breast cancer (10.5%). Most patients (76%) had no significant exposures. The most common exposures reported were recreational drugs (alcohol, marijuana, cocaine, cigarettes) (5.5%). The most common ultrasound anomalies were choroid plexus cyst (24.5%), echogenic intracardiac focus (10.3%), pyelectasis (6.8%) and echogenic bowel (6.7%). The clinical computer system, as an adjunct to a genetic counseling program, will enhance the ability to (1) develop specialized education programs for our genetic counselors based on the frequencies and types of referral indications, family histories, exposures, and/or ultrasound anomalies, (2) collect and report genetic counseling data on a large population, (3) document patient decisions following the genetic counseling session, and (4) monitor utilization of our clinical practice guidelines through automatic monitoring of data points. Patients’ Perceptions of Directiveness, Its Role in Their Expectations of the Genetic Counseling Session, and Its Effect on Their Decision Making∗ L. Elston, J. Edwards, C. Singletary, and R. Ferrante University of South Carolina, Columbia, South Carolina The principle of nondirectiveness is a tenet of the genetic counseling profession. However, patients may expect to receive advice or direction from their genetic counselor, and may feel unsatisfied if they do not feel their expectations were met. Prenatal genetic counseling patients were surveyed regarding their expectations for their genetic counseling session using a two-page written questionnaire immediately preceding their session. A follow-up telephone survey consisting of 24 openand closed-ended questions assessed whether participants’ expectations were met and whether they received directive advice regarding prenatal testing from their genetic counselor or other health care professionals involved in their care. Most participants did not feel their genetic counselor had an opinion about whether they should have testing (16/17, 82.4%) or wanted them to have or not have testing (16/17, 82.4%). Most participants did not feel their maternal–fetal medicine specialist had an opinion about whether they should have testing (13/17, 81.3%) or wanted them to have or not have testing (12/16, 75%). Participants did consider their referring physicians to be directive. Most (11/16, 68.9%) felt their referring physician had an opinion about whether they should have testing, and 52.3% (9/16) felt this physician wanted them to have testing. Twenty-five percent (4/16) reported their physician told them directly whether to have testing. Participants reported expecting and receiving information, explanation, medical opinion, and reassurance from genetic counseling. Most participants expected advice (16/17, 94%) and reported receiving it; they defined advice loosely as information, especially information they did not have or have access to themselves. All participants felt satisfied with genetic counseling (100%). This study suggests that eliciting and addressing patients’ needs, including what patients may consider to be advice, is associated with patient satisfaction. Patients may consider genetic counseling—in ∗ Introduced

by Janice Edwards.


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October 22, 2001

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providing information they did not have, presenting options, and reflecting on their thoughts and feelings—to be an advisory process. Since patients’ expectations for advice are met in genetic counseling and they do not consider their genetic counselors to be inappropriately influencing their decisions about prenatal testing, this study supports a reevaluation of the genetic counseling community’s definition of directiveness. Does Hepatitis C Infection Explain Otherwise Unexplained Elevated Maternal Serum Alpha-Fetoprotein Levels in Pregnant Women?∗ R. Genovese University of Maryland School of Medicine, Baltimore, Maryland Elevated maternal serum alpha-fetoprotein (MSAFP) has been seen in pregnancies complicated by open neural tube defects, ventral wall defects, multiple gestations and in cases of fetal demise (14), yet there remains a large number of pregnancies with unexplained elevated MSAFP (18). It has been shown that individuals affected with the hepatitis C virus can have liver damage, resulting in liver production of AFP (1). Typically AFP is only produced by the developing fetus, and not in healthy adults (1, 14). In this pilot study we hypothesized that HCV infection could be an explanation for otherwise unexplained elevated MSAFP. This study tested 106 unexplained elevated (>2.00 MoM) MSAFP specimens (archived from the University of Maryland Alpha-Fetoprotein Laboratory), by anti-HCV antibody Elisa testing, and compared this finding to 106 MSAFP specimens with normal MSAFP levels also tested for anti-HCV antibodies. We hypothesized that there would be a significant increase in the number of HCV screen-positive specimens in the sample group than the control group. There were 3 positive specimens out of 106 in the sample group, and 1 positive specimen out of 106 in the control group, which was not a statistically significant difference. Though this study did not reveal any significant findings it does not rule out the possibility that women affected with HCV may be at risk for elevated MSAFP, and that elevated MSAFP may be a valuable tool in detecting individuals with HCV infection. Further investigation is required. Discussions of Personal Meaning in Preamniocentesis Genetic Counseling∗∗ L. Hamby, B. Biesecker, and D. Roter The Johns Hopkins School of Public Health, Baltimore, Maryland The information that women and couples learn during prenatal genetic counseling has relevance beyond the information itself. They process the information in terms of the personal meaning that it has for them. To learn more about the way discussions of personal meaning unfold during prenatal genetic counseling sessions and the factors that affect their inclusion, we conducted an exploratory ∗ Introduced by Lisa Steinberg. ∗∗ Introduced by Barbara Biesecker.


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October 22, 2001

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qualitative study of the effect of the beliefs of prenatal genetic counselors on their counseling practices and the fulfillment of clients’ needs. The study involved interviews with seven prenatal genetic counselors from four prenatal genetics centers about their general approaches within preamniocentesis counseling sessions, twenty-four audiotapes of preamniocentesis genetic counseling sessions with these prenatal genetic counselors and their clients, and eleven interviews with a subset of the participating clients. The combined analysis of these three sets of data provide preliminary evidence that there is discrepancy between genetic counselors’ plans and practices as well as clients’ desires and needs. The audio-taped sessions show variation in terms of the frequency and depth of discussions of personal meaning in actual practice. In addition, the clients in this study expressed mixed feelings about their preferences for discussing personal meaning with their genetic counselors. The implications for the practice of genetic counseling, the training of genetic counselors, and needs for future research will be discussed. Experience and Acceptance: Attitudes Toward Disability and Prenatal Diagnosis∗ J. Iger, K. Ormond, S. Stone, and J. Schiffman Northwestern University, Chicago, Illinois Personal experience with individuals with disabilities impacts genetic counseling issues. This study addresses experiential influences on decision making as it applies to the issues of prenatal diagnosis, pregnancy termination, and acceptance of a child with a disability. Thirty-two participants (17–26 years old) were grouped according to amount of previous personal experience with individuals with disabilities. Group 1 (N = 10) had no experience with individuals with disabilities, Group 2 (N = 11) was seeking or had limited experience with individuals with disabilities, and Group 3 (N = 10) had extensive experience with individuals with disabilities. Participants were surveyed using the Scale of Attitudes Toward Disabled Persons (SADP) and a supplemental questionnaire regarding prenatal diagnosis and willingness to accept a child with a disability. The SADP is a wellvalidated Likert-format scale to measure attitudes toward persons with disabilities as a group. A weighted sum of the item responses provides a measure of the respondent’s overall attitude toward persons with disabilities. The supplemental questions assessed views toward prenatal diagnosis and pregnancy termination for case examples addressing physical, cognitive, and sensory disabilities in a gradation of severities. There was a statistically significant difference between Group 3 and the two remaining groups on SADP scores. Group 3 was also more accepting of raising a child with a disability. SADP score was positively correlated with age ( p = .026) and personal experience ( p = .066). SADP score did not correlate strongly with attitude toward prenatal diagnosis ( p = 0.12). This study demonstrates that close personal relationships with individuals with disabilities correlate strongly with acceptance of one’s own child, should he or she have a disability. Further, a more positive attitude toward individuals with disabilities is associated ∗ Introduced

by Kelly Ormond.


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October 22, 2001

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with higher hypothetical acceptance of disability in one’s own child, and a lack of interest in prenatal diagnosis. Exposure to individuals with disabilities appears effective in creating positive attitudes toward disability, and increasing willingness to accept disability in one’s own child. A patient’s past experience with disability may predict future response to disability. To maximize understanding and attempt to ensure informed consent, it may be beneficial to expose potential parents of a child with a disability to other such children, or families living with disability. Counseling Concerns With Cystic Fibrosis Mutation Analysis G. A. Jervis, R. Montenegro, and B. G. Kousseff University of South Florida, Tampa, Florida Cystic fibrosis (MIM#219700) is an autosomal recessive disease caused by mutations in the cystic fibrosis conductance regulator gene (CFTR) located on Chromosome 7q31. Manifestations of the disease include pancreatic insufficiency, meconium ileus, chronic bronchopulmonary infections, and elevated sweat chloride concentrations. To date, over 900 CFTR mutations have been identified. We present an African American family referred during their third pregnancy because they have two sons with a clinical diagnosis of cystic fibrosis. The oldest son (MC) had meconium ileus and surgery for duodenal atresia. He uses a gastric tube and is on enzyme therapy. The younger son (JC) is asymptomatic but allegedly had a positive sweat test. Parents are healthy and have no family history of cystic fibrosis. Molecular studies performed at Genzyme Genetics laboratory revealed: Father – delta F508/(-); Mother – delta F508/D1270N; MC – delta F508/delta F508; JC – delta F508/D1270N; Amniocytes – delta F508/D1270N. Thus, the mother, JC, and the fetus have the same genotype. The pregnancy resulted in a healthy male with a normal sweat test. If the offspring had all three mutations, then the maternal mutations would have been in cis. There are reports that double mutant CFTR alleles are more common than expected (Hum Mol Genet, 1995;4:1169). The three delta F508/D1270N individuals are most likely compound heterozygotes. The phenotype of delta F508/D1270N has been reported with normal pulmonary and pancreatic function, which explains the asymptomatic state of these individuals. However, there are reports that males with delta F508/D1270N have congenital bilateral absence of vas deferens (CBAVD). So, the two sons with delta F508/D1270N genotype will be evaluated for CBAVD and counseled accordingly. This family illustrates the complexity of genotype–phenotype correlations in cystic fibrosis and demonstrates that certain combinations of CFTR mutations can result in asymptomatic phenotype but may have consequences for fertility. Evidence That Depression Screening is Useful in Prenatal Genetic Counseling∗ M. Jurek, J. Edwards, C. Lovell, C Singletary, V. Vincent, and C. Wolpert Genetic Counseling Program, University of South Carolina, Columbia, South Carolina ∗ Introduced

by Chantelle Wolpert.


Prenatal

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October 22, 2001

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Depression commonly occurs during pregnancy. If left untreated, depressive symptoms have been associated with an increased risk for preeclampsia, low birth weight, and postpartum depression. Surprisingly, in the United States there are no formal depression-screening programs targeted toward prenatal patients. Genetic counselors are uniquely poised to offer depression screening given that the typical prenatal genetic counseling session includes psychosocial assessment. The objective of this study was to examine whether genetic counselors recognize symptoms of depression in a prenatal advanced maternal age population. We hypothesized that a standardized depression-screening questionnaire would be most effective in aiding genetic counselors in identifying depressive symptoms in this prenatal population. Prenatal patients were asked to complete a standardized depression inventory, the Beck Depression Inventory-II (BDI-II) in the waiting room prior to their prenatal genetic counseling session. A board-certified prenatal genetic counselor blinded to the results of the BDI-II completed a psychosocial assessment for depression after the session. A supervising genetic counselor scored the BDI-II and compared the two methods for concordance. Women identified as depressed were informed of their results and referred to their health care provider by the supervising genetic counselor. Of the 35 who volunteered for this study, 10 (28.57%) screened positive for depression on the BDI-II. Only 3 of these 10 patients were identified by their prenatal counselor as having symptoms of depression, representing a 30% concordance rate between the BDI-II and the genetic counseling assessment. This pilot data suggests that significant percentage of depressive symptomatology in an AMA prenatal population may not be apparent to genetic counselors using routine methods. Incorporating a formal depression-screening tool such as the BDI-II may be useful in a prenatal setting. Assessing Genetic Risk: Comparison Between the Referring Obstetrician and Genetic Counselor K. Koscica, J. Canterino, J. Harrigan, T. Dalaya, C. Ananth, and A. Vintzileos The Perinatal Institute, Jersey Shore Medical Center, Meridian Health Systems, New Jersey Our objective was to compare the genetic risk assessment of the referring obstetrician to the risk assessment of the genetic counselor. In the study design, all patients evaluated between January 1 and March 31, 1999, requiring genetic counseling were retrospectively reviewed. The genetic risk assessment of the referring obstetrician was compared with the genetic risk assessment following counseling by a genetic counselor who used a questionnaire and a three-generation pedigree. The number of patients with additional genetic risk factors identified by the genetic counselor were recorded and compared using the McNemar Chi-Square test. Group demographics and characteristics were evaluated. The results revealed that among the 145 patients evaluated, a total of 38% (n = 55) of the patients had additional genetic risk factors detected by the genetic counselor ( p = .01). The maternal and demographic characteristics of the two groups were not different. In conclusion, the practice of referring high risk obstetric patients for genetic counseling improves detection of identifiable genetic risk factors.


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October 22, 2001

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Why Do Fertile Couples Choose Preimplantation Genetic Diagnosis?∗ J. Leib, C. Masciangelo, Y. Verlinksy, D. Hadley, and B. Biesecker Johns Hopkins University, Baltimore, Maryland; National Human Genome Research Institute, Bethesda, Maryland; Reproductive Genetics Institute, Chicago, Illinois In preimplantation genetic diagnosis (PGD), a couple uses in vitro fertilization (IVF) to create embryos, and then one cell is removed and genetically tested. Unaffected embryos are then transferred to the woman’s uterus. The possibility of misdiagnosing the embryo, the medical risks for the women, the low pregnancy rates, and the financial cost of participating in PGD would all seem to deter a fertile couple, who would not ordinarily participate in IVF, from choosing PGD. Fertile couples may even be further deterred in that they are making the decision to engage in PGD in the presence of less risky, less expensive, and more successful options, namely prenatal diagnosis, donor gametes, and adoption. This exploratory study investigated the decision-making process of fertile couples who have had PGD, including the factors, beliefs, and experiences that lead a couple to choose PGD over other options, as well as the role genetic counselors play in this process. A qualitative research approach was used to analyze the data collected from semistructured telephone interviews. The interviews were transcribed and coded with the aid of NUD*IST to identify themes and/or hypotheses about the decision to pursue PGD. Seventeen individuals participated in the study. All participants were fertile, at increased risk of having a child with a genetic condition, and had completed the PGD process up to the point of genetically testing embryos. Almost 70% of the sample had participated in PGD more than once. The sample was very educated and wealthy. The decision-making process to engage in PGD was found to be minimal. Couples chose PGD over other options because of their discomfort with abortion and their strong desire to be genetically related to their children. The majority of the sample reached this decision without any prior experience with prenatal diagnosis and a pregnancy termination. For many, adoption served as a backup option. The data demonstrate that when these fertile couples’ attitudes and beliefs eliminated other reproductive options (i.e., prenatal diagnosis, donor gametes, and adoption), the impact of the condition on the family and the affected individual’s life further motivated them to gain access to PGD. This study generated several implications for genetic counselors that will be presented. When Ambiguous Amniocentesis Results Lead to Ethical Dilemmas: Respecting Patient Autonomy is the Only Resolution V. Loik Ramey, J. Habecker-Green, and G. Cohn Baystate Medical Center, Springfield, Massachusetts Preamniocentesis counseling customarily involves the discussion that results are not 100% accurate and that ambiguous or nondefinitive results are possible ∗ Introduced



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October 22, 2001

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outcomes. We present two cases here (additional cases will be included in our presentation) in which ambiguous amniocentesis results created ethical dilemmas for both the couples and the genetic counselors involved. Case 1 was a 37-year-old female, G3P2 with an uncomplicated pregnancy. Amniocentesis revealed a 46,XY karyotype in 70% of cells and a 46,XX karyotype in 30% of cells. Ultrasonography revealed normal-appearing male genitalia. The amniotic culture along with parental bloods were analyzed to determine if maternal cell contamination was the source of the 46,XX cell line. These studies failed to rule in or rule out maternal cell contamination. A vanishing twin and a chimerism were raised as other possible origins of the 46,XX cell line, with chimerism having possible significant consequences. Case 2 was a 41-year-old female, G4P3 with an uncomplicated pregnancy. Amniocentesis revealed a 46,XY karyotype with one colony exhibiting an additional Chromosome 8 and another colony exhibiting an additional Chromosome 22, consistent with pseudomosaicism for Trisomy 8 and Trisomy 22. The literature suggests that with pseudomosaic karyotypes there is a less than 1% chance for true mosaicism, possibly including significant physical and developmental consequences. In both of these cases the couples were faced with a difficult decision. The counselors involved in the cases struggled with their own feelings as they believed both fetuses to be normal but could not prove this. Both of these couples elected to terminate their pregnancies. The counselors were eventually able to accept their inability to prove what they believed to be normal pregnancies by knowing they provided comprehensive information and then respecting their patients’ autonomy. With the advent of new technology and genetic testing there will be an increasing number of such ambiguous results and difficult decisions. If we can rely on our patients to make their own decisions when provided with unbiased, complete information, then our ethical challenges will be limited. Access and Usage of a Teratogen Information Service C. McMahon and K. Ormond Northwestern University, Chicago, Illinois Previous data suggests that up to 80% of pregnant women are exposed to a medication or chemical during the course of pregnancy. Based on the 182,000 births per year in the state of Illinois, the Illinois Teratogen Information Service (ITIS) serves 3 mm. Because of a recent case of a large fetal pericardial effusion diagnosed by ultrasound at our center, we reviewed the significance and treatment of this finding to provide effective genetic counseling to our patient. A 17-year-old G1P0 Hispanic female presented at the obstetrics clinic at 21 weeks gestation. A previous ultrasound from another center was significant, in which a fluid collection surrounding the fetal heart was detected at 11.5 weeks. Ultrasound performed at our center at 21 weeks revealed a significant pericardial effusion, with the widest distance from the myocardium to the pericardium at 9 mm. The remainder of the ultrasound exam, including fetal echocardiogram, was normal. Amniocentesis revealed a normal female karyotype and AFAFP. Maternal TORCH, Coxsackie virus, and Parvovirus B19 titers were negative. The patient had normal MCV. Serial ultrasounds were performed. Six weeks later a spontaneous resolution of the pericardial effusion was noted. A review of the literature revealed several potential causes of pericardial effusion, all of which were negative in our patient. The relative rarity of isolated pericardial effusion, in comparison with other more routine referrals for ultrasound findings, suggests a need for a cohesive review of the literature outlining the clinical significance of pericardial effusion and the evaluation needed for genetic counseling. We present our detailed case study and a review of the literature.

VIII. PROFESSIONAL ISSUES African American Attitudes Toward Genetic Testing for Alzheimer’s Disease M. Barber, P. Whitehouse, S. Post, S. Sami, S. Ollerton, T. Brown, S. LaRusse, B. Cook-Deegan, N. Relkin, and R. Green Case Western Reserve University, Cleveland, Ohio Because some minority groups have been underrepresented in past research, the data we now use to create new genetic protocols may not be as applicable to individuals in these groups as it is for whites. The REVEAL Study (Risk Evaluation


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and Education for Alzheimer’s Disease) is an NIH-funded study to examine the impact of providing risk assessment, including Apolipoprotein E (APOE) genotyping, for Alzheimer’s disease (AD) in asymptomatic individuals who have/had a parent with AD. As part of the protocol, we provide individuals in one study arm with risk information that is partially based on their APOE genotype. The risk figures that we use in REVEAL are based on data collected in the MIRAGE (Multi-Institutional Research in Alzheimer’s Genetic Epidemiology) study. Although MIRAGE includes people from all ethnic backgrounds, there have not been enough data collected on African Americans and other minority groups to derive risk figures specifically for each group. Therefore, the risk figures we use in REVEAL are based only on data collected from whites. There is evidence that the effect of APOE genotype on AD risk may be different for certain minority groups than it is for whites. To address the issue of how to best disclose this information to our minority participants in REVEAL we convened a discussion group of seven adult African American individuals whose parents have/had AD, four investigators, the chair of our external advisory board, and three social workers from the Alzheimer’s Association. Our findings indicated that this group preferred inclusion in the study over exclusion from it, that honesty about the situation is essential but need not occur prior to the formation of a trusting relationship between themselves and the investigators, and that the way the truth is framed can have an impact on the way the information is perceived. Different perceptions of the importance of research, barriers to recruitment/participation, and the desire for ongoing dialogue were also discussed. The findings from these activities and other minority outreach programs developed by our Alzheimer Center will help us and others meet the challenges involved in recruiting minority groups into genetic research and address issues surrounding their underrepresentation in past research. Ethical and Professional Challenges in Genetic Counseling: A Survey of Counselors’ Experiences∗ M. Bower, P. McCarthy Veach, D. Bartels, and B. LeRoy University of Minnesota, Minneapolis, Minnesota Limited research exists describing the ethical and professional dilemmas that genetic counselors encounter in practice and the strategies they employ to resolve them. In this study, a random sample of 762 full members of the NSGC was mailed a questionnaire with a total response rate of 67.7%. Four hundred and fifty-four genetic counselors identified the frequency with which they encounter each of 16 ethical/professional issues that were identified in a previously published study. Over 40% of participants verified the following issues as occurring frequently in practice: dealing with patient emotions, diversity, financial constraints, uncertainty, and colleague error. Two hundred and fifty-five participants provided anecdotes from personal experience, describing particularly challenging ethical/professional situations. Genetic counselors also provided suggested strategies for addressing these issues. Issues described in the anecdotes ∗ Introduced

by Bonnie LeRoy.


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were categorized into the 16 domains identified in the previous McCarthy Veach et al. study. Most of the anecdotes involved issues of informed consent, value conflicts, confidentiality, colleague error, information withheld, and resource allocation. Using inductive analysis, eleven strategy domains were identified. The most frequently recommended strategies involved the following: further discussion with patient, consultation with other professionals, patient referral to relevant resources, educating health professionals, and deferring to preestablished guidelines. Thirty-five participants were unable to/did not offer strategies. Genetic counselor demographics, including experience, were not related to frequency of encountering each issue, type of anecdote provided, or recommended strategy. Five significant correlations existed between the type of ethical/professional issue and the suggested strategy for addressing the issue. The significant number of genetic counselors who did not suggest a strategy suggests that genetic counselors could benefit from further ethics education. Illustrative examples of anecdotes will be provided and the implications of these findings for genetic counselor education, practice, and policy will be discussed. The Impact of Disease Gene Patenting and Licensing on Clinical Genetic Testing∗ K. Branda, N. McIntosh, J. Merz, and J. Tsipis Brandeis University Genetic Counseling Program, Waltham, Massachusetts Although disease gene patents have been granted for some time, it is only recently that their impact has been considered. Given the critical position that genetic counselors occupy in the process of clinical genetic testing, we wanted to survey counselors to determine their perception of how disease gene patents have affected testing. Genetic counselors were recruited via an e-mail message posted on the listserv for the National Society of Genetic Counselors that contained a link to an online survey. We asked counselors about their satisfaction with DNA-based clinical genetic testing for 12 conditions that were selected because their causative genes have been patented and/or licensed in different manners. Counselors were asked to rate their satisfaction with the variables of cost of testing, turnaround time for results, ease of specimen handling, and insurance coverage by the testing laboratory. Results from the study indicated that genetic counselors were significantly more dissatisfied with the number of testing laboratories available for restrictively licensed genes as compared with nonrestrictively licensed genes (t = 5.9, p < 0.001). They were also more dissatisfied with the cost of genetic testing for restrictively licensed genes as compared with nonrestrictively licensed genes (t = 6.57, p < 0.001). Conversely, counselors were more satisfied with the ease of specimen handling (t = 4.47, p < 0.001), the quality of educational materials provided by the testing laboratory (t = 2.35, p < 0.05), and the customer service provided by the testing laboratory (t = 2.14, p < 0.05) for restrictively licensed cancer predisposition genes as compared with nonrestrictively licensed cancer genes. Although further research is needed, the results of this study ∗ Introduced

by Judith Tsipis.


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indicate that disease gene patenting and licensing have had both positive and negative effects on clinical genetic testing. The Value Placed on a Genetic Understanding of Schizophrenia: Perspectives of Family Members Participating in Genetic Linkage Research∗ R. Cohen, B. Biesecker, and G. Geller University Health Network, Toronto, Ontario, Canada Objective: Family linkage studies are going on in an attempt to identify genes associated with schizophrenia. Little is known about what families understand and expect from these studies. Moreover, it is unknown whether and how genetic findings related to schizophrenia will alter perceived stigma associated with this illness and if cultural factors will influence this process. Methods: This study addresses these questions through an exploratory, qualitative design. Twenty-six participants were recruited from an existing linkage study population of families in which there is at least one member affected with schizophrenia. First-degree relatives of affected individuals completed telephone interviews consisting of open-ended questions and related rating scales. The data were analyzed thematically. Descriptive quantitative analysis contributed to the interpretation of qualitative findings. Results: Data suggest that family members participate in linkage research for both personal and altruistic reasons. They anticipate that a genetic understanding of schizophrenia will have dual value: it will allow them to (a) relinquish blame and feel reduced social stigma, and (b) maintain control through identification of effective clinical interventions related to early detection, prediction, prevention of illness, and reproductive planning. Family members believe that a gene discovery will grant schizophrenia physical illness status and they endorse the medical model as an effective coping model. Jewish and non-Jewish family members share these expectations. Jewish family members feel that their cultural value placed on education enhances their culture’s tolerance for mental illness. Conclusions: Findings from this study contribute to our understanding of the anticipated impact of genetic findings related to schizophrenia and inform education and counseling strategies for a population with familial schizophrenia. Genetics in Primary Care: An Educational Initiative S. Davidson, B. Say, S. Meixel, G. Gibson, M. Weisz, and D. Scheid H. A. Chapman Institute of Medical Genetics and the University of Oklahoma Health Sciences Center, Tulsa, Oklahoma As evidenced by several recent publications, and as is often recognized by medical geneticists in day-to-day practice, there is a significant need to educate health care providers about genetics and genetic services. For this purpose, a grant was awarded by a collaboration of several national organizations to the University of Oklahoma Health Sciences Center, Tulsa, in cooperation with the ∗ Introduced



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H. A. Chapman Institute of Medical Genetics. The goal was to collaboratively develop an educational model for teaching medical genetics to faculty within the departments of Internal Medicine, Family Medicine, and Pediatrics. The faculty would then be able to incorporate genetics into their own teaching system. A preliminary needs assessment of the university faculty revealed that small groups and case-based methods were the best way to teach students, and that the comfort level for teaching about genetics topics was generally very low as compared to the level of importance of teaching those topics. In a collegial effort, the Genetics in Primary Care team developed and delivered case presentations in a small group format following a brief introduction and overview of the topic to be discussed. Cases presented included breast and ovarian cancer, cardiovascular disease, and developmental delay (Fragile X syndrome). A short pre- and posttest questionnaire was completed for each group session, and participants provided feedback regarding the presentation as well. Case structure, presentation style, and results of the questionnaires will be presented. We concluded that both the presentation format and educational materials were appropriate for genetics education for primary care students, residents, and faculty in our university setting. Evaluation during a national GPC site visit confirmed that this method of implementing medical genetics education was successful, and could be used as a model for other institutions in the country. Future plans for the Genetics in Primary Care initiative include (1) implementation of an interactive genetics education web site, (2) development of a short presentation to be delivered to community physicians across the state, and (3) continued case development and presentation for the university physicians and students. Genetic Counseling in a Neuromuscular Specialty Clinic K. Dent University of Utah Health Sciences Center, Departments of Neurology and Pediatrics, Salt Lake City, Utah The Muscular Dystrophy Association (MDA) of Utah sponsors a weekly multidisciplinary neuromuscular clinic in the Department of Neurology at the University of Utah. The clinic is staffed by neurologists, genetic counselors, social workers, physical therapists, and MDA representatives. Approximately 500 individuals are evaluated each year with various neuromuscular conditions including Charcot-Marie-Tooth, facio-scapulohumeral dystrophy, myotonic dystrophy, Becker and Duchenne muscular dystrophy, and spinal muscular atrophy. Many of these conditions exhibit genetic heterogeneity, variable expressivity, incomplete penetrance, and anticipation, adding to the complexity of counseling issues. The role of genetic counselors in the neuromuscular clinic setting has expanded considerably in recent years as new testing, treatment, and reproductive options have become available to patients and families. The most important counseling issues identified include decisions regarding carrier testing for X-linked disorders in children, presymptomatic testing, and reproductive options. While carrier and presymptomatic testing in children in general has not been shown to be either beneficial or harmful, many parents (and referring physicians) have not considered issues such as loss of autonomy and damage to self esteem as potential


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consequences. Genetic counselors are the most qualified to offer anticipatory guidance and accurate information in these situations and to do so in an open, nonjudgmental manner. Additionally, genetic counselors are better informed and better able to discuss methods and psychosocial issues of reproductive options. The role of genetic counselors in neuromuscular clinics is challenging and dynamic. Genetic counselors can make substantial contributions to the neuromuscular clinic and are rapidly becoming an essential member of the multidisciplinary team. Incorporating Core Competencies Defined by the National Coalition for Health Professional Education in Genetics Into a Newly Designed Course, “Medical Genetics for Health Professionals” J. Edwards, S. Nix, K. Brooks, C. Lovell, C. Singletary, V. Vincent, and R. Best University of South Carolina, Columbia, South Carolina “As patients ask more questions about genetic tests and disease risk, more responsibility for the use and interpretation of genetic tests and information will fall to the primary care physicians, nurses, physician assistants and advanced practice nurses who may not be formally trained in genetics. Other health professionals such as psychologists and social workers will also be called upon to help individuals and families cope with the psychosocial issues related to genetic testing and information; public policy makers and health officials will be faced with integrating genetics into relevant policies and programs. It is therefore imperative that all of our nation’s health professionals have the knowledge, skills and resources to effectively integrate new knowledge and technologies into practice.” (from the National Coalition for Health Professional Education in Genetics (NCHPEG) web site: http://www.nchpeg.org) NCHPEG, which represents approximately 120 health professional organizations, has developed and published core competencies, described as essential skills required of all health professionals to meet the genetic needs of the twenty-first century. The faculty of the Master of Science Genetic Counseling Program at the University of South Carolina has incorporated these competencies as learning objectives in a newly designed course, “Medical Genetics for Health Professionals.” The course aims to bring today’s health professionals into the realm of genetic medicine by teaching appreciation for the role heredity plays in health and illness, and assisting the students’ integration of genetic knowledge into their health discipline. Genetic counselors and geneticists serve as the primary instructors, with a genetic counseling graduate student as the teaching assistant. The teaching plan includes clinically oriented, problem-based examples in didactic lectures interspersed with workshops and discussions. This three-credit course meets weekly during a 10-week summer session. Doctoral candidates in nursing are required to take the course, which is also open to graduate students in public health, social work, and psychology via permission of instructor. The course is a natural extension for genetic counselor educators for several reasons. The faculty has had experience in approaching competencybased education within the master’s program, as the American Board of Genetic Counseling competencies have been incorporated into the curriculum. The course serves to strengthen the Master of Science Genetic Counseling Program, by raising the profile of the Program within the university and generating tuition dollars that


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are returned to the School of Medicine. More important, the faculty has found a new opportunity to educate other health professionals, as prescribed by our code of ethics. Issues Affecting the Provision of Genetic Services Among Mexican American Communities Along the U.S./Mexico Border∗ V. Enciso, L. Urdaneta, M. Aguilar, J. Livingston, and C. Kaye University of Texas Health Science Center at San Antonio, San Antonio, Texas The goal of this study was to identify barriers that affect the access and utilization of genetic services for Mexican Americans. In 1998–2000, interviews were collected in South Texas regarding cultural beliefs about health and healing practices, causes of birth defects, and attitudes regarding genetic services. The project was later extended to include locations in West Texas, New Mexico, Arizona, and California to see if issues differed by location. Using a qualitative ethnographic approach, open-ended interviews were conducted on subjects from four target groups: clients of genetic services, genetic service providers, lay midwives (parteras), and other folk healers (curanderos). The interviews were analyzed using the NUD*IST 4 program. To date, 75 subjects were interviewed in South Texas and 55 additional subjects were obtained in West Texas, New Mexico, Arizona, and California. The studies in South Texas identified barriers to obtaining genetic services in four principal categories. (1) Language and communication: most clients speak predominantly Spanish while genetics specialists primarily speak English. Clients’ educational level, sophistication, and literacy are often low, and technical terminology is difficult for them to understand. (2) Poverty affects access to transportation, frequent changes of residence, accessibility from rural locations, availability of childcare, lack of telephone service, etc. (3) Cultural beliefs, values and behaviors, such as spiritual and religious views of illness and healing, holistic view of body, mind, and soul as a unified system, and less reliance on technology may not be understood by some medical providers. (4) System issues such as costs, scarcity of specialized genetic providers and clinics, fragmentation and duplication of services caused by changes in health care system, etc., also interfere with utilization. The interviews collected in the four locations of West Texas, New Mexico, Arizona, and California generally support these conclusions. Concerns about environmental causes of illness and birth defects are emerging as significant differences between the two studies. Measures taken to reduce the impact of these barriers vary depending on what has been deemed to be the appropriate strategy for each state. The Nature of Clinical Supervision for Genetic Counseling Students∗∗ H. Engman, B. LeRoy, P. McCarthy Veach, and K. Cikanek University of Minnesota, Minneapolis, Minnesota ∗ This project was supported by an ∗∗ Introduced by Bonnie LeRoy.

MCH Grant, No. 481011.


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Clinical supervision is essential for helping students develop as genetic counseling professionals and for ensuring quality patient care. Assessment of supervision in genetic counseling is in the beginning stages. The objective of this study was to investigate the supervision methods employed by genetic counselors and to develop recommendations to improve the process of supervision. We developed and mailed a survey to 800 randomly selected full members of the National Society of Genetic Counselors. Individuals were asked to respond to questions regarding (1) demographics, (2) evaluation of student performance, (3) feedback provision, (4) student/supervisor conflict, and (5) suggestions for improving supervision. Of the 335 usable surveys (41.9%), 54.3% (n = 182) of respondents had supervised within the past 5 years and 45.7% (n = 153) had not. Individuals who had not supervised students within the past 5 years were asked to comment on why they had not supervised. Of those who supervised, 66.7% have been supervising for 5 years or less, 55% have supervised 10 students or less in their career, and 60.2% work with each student for 5–10 weeks in clinic. The overwhelming majority of supervisors reported participating in supervision because they enjoy teaching and want to give back to the genetic counseling profession. Live supervision is the most widely used method; however, audiotapes, check-in, and other methods were also employed. One hundred percent of respondents reported using one-on-one oral feedback, with 47.3% stating that they “always” provide feedback to the student immediately following a clinical session. Only 2.7% of supervisors require a written or oral exam at the end of the supervision rotation. The most frequently reported student/supervisor conflicts involve students who lack technical knowledge, fail to incorporate feedback, and demonstrate continued anxiety. For those respondents who had not supervised, the most common reasons involved the following: no program near them, were never asked to supervise, not seeing patients at this time, and recently graduated. The results of the study indicate that the majority of supervisors employ similar supervision techniques for evaluating student progress, but other methods may also have merit. Additionally, most supervisors are counselors with less than 5 years of experience, and they are interested in training in supervision, with the most favorable method being a workshop. Descriptive and inferential statistics will be reported and recommendations will be given. Genetic Counselors’ Views on Releasing Research Results for Gene Identification Studies S. Estabrooks, E. Melvin, and M. Speer Duke University Medical Center, Durham, North Carolina Patients have expressed a strong belief that gene identification research should provide results. However, many research laboratories cannot provide results because they lack CLIA approval and/or because the data for adequate interpretation of risk associated with genetic variation identified through research is not fully characterized. Because genetic counselors are often the intermediary between clinician and patient and the research laboratory, and should, therefore, be aware of the issues on both sides, we sought to inquire their views on the importance of research


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results to the research participation interaction. We developed and distributed a survey addressing this issue at the 2000 NSGC Annual Education Conference. Hundred and twenty-three surveys were returned. Respondents ranked the availability of results as the most important factor in their decision to refer. When asked how likely certain factors are to keep them from referring patients to gene identification research, 59% indicated that if research results were not available they would be at least somewhat likely not to refer the patient. However, 69% have referred at least one patient to research that did not provide results. When asked to list thoughts about whether research laboratories should be required to release results, there was a varied response. The responses indicate genetic counselors have different views and varied levels of understanding regarding the release of results from genetic research studies. Many counselors did focus on the important issues, such as CLIA approval, IRB approval, availability of appropriate data for interpretation of findings, and the importance of counseling when results are available, indicating an understanding of the complications of releasing results. In summary, respondents felt the availability of results to be an important component of research participation; however, in practice this opinion did not tend to adversely influence their referrals for patient participation, underscoring the role of genetic counselors as patient advocates. Genetic counselors can take an active position in their dual roles as patient advocates and genetic health care providers in formal discussions about issues related to sharing research results. In this way, counselors can positively contribute to the development of much-needed guidelines for research laboratories as to when research results are appropriate for translation to general clinical care, such as those likely to stem from the Secretary’s Advisory Committee on Genetic Testing, and how to facilitate the transition of clinical application of appropriate tests. Pursuing Genetic Counseling Opportunities in Infertility Settings: An Experiential Account A. Gregory, M. Gabriel, and L. Randolph Genetic Resources Medical Group, Inc., and Cedars-Sinai Medical Center, Los Angeles, California As the significance of genetics in medicine becomes more apparent, roles of genetic counselors are expanding beyond traditional settings, and new opportunities for providing genetic services are created. We attempted to integrate genetic counseling services into local infertility practices through educating infertility professionals about genetic causes of infertility, implications for future reproduction, and the value of helping patients make informed reproductive decisions. Our team consisted of a clinical geneticist and two genetic counselors. Our goal was to develop a private genetic counseling practice by providing genetic services to infertility patients. With the help of a consultant, we created marketing materials and sales strategies for approaching infertility specialists. We identified 31 physicians, (some in group practices) and initially contacted them by phone. We spoke with 20 physicians or practices that were next mailed information packets containing marketing materials that explained the value of genetic services for couples with infertility and suggested appropriate indications for referral. We offered to provide


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genetic services at our Los Angeles office, telephonically, or in the office of the infertility physician. All 20 physicians or practices were contacted by phone at least once after marketing materials were sent, and we met with 13 physicians in person. The majority of infertility specialists we contacted did not regularly refer patients for genetic services related to infertility. Many physicians expressed an interest in using a genetics resource and accepted marketing materials for their offices. Most of these were physicians with whom we had met in person. One larger practice pursued the option of providing genetic counseling at their office. Reasons cited for utilizing a genetics resource included reducing liability and distinguishing their practices from others. A concern voiced by more than one practice was that genetic counselors would “scare” their patients. We concluded that infertility specialists and their patients would benefit from education about genetic causes of infertility and their importance for future reproduction. Based on our experience, providing education that leads to increased referrals will require multiple contacts with infertility specialists, and in-person contacts appear to be most effective. A Survey of Cardiologists’ Knowledge of Susceptibility Genes and Genetic Testing and Counseling for Adult-Onset Cardiovascular Disease∗ K. Habermann and G. Diaz Mount Sinai School of Medicine, New York Adult-onset cardiovascular disease is the leading cause of death in the United States. Environmental factors such as diet, smoking, and lack of exercise have a well-documented role in the etiology of cardiovascular disease (CVD), hypertension (HTN), and myocardial infarction (MI), but the role of susceptibility genes for adult-onset cardiovascular disease has been less well studied. In several studies, polymorphisms in the genes for Methylene tetrahydrofolate reductase (MTHFR), the beta subunit of the epithelial sodium channel (BNa), Angiotensinogen (AGT), Prothrombin (Pro), and Factor V Leiden (FVL) have shown positive associations with the occurrence of CVD, HTN, and MI in various populations. In the postgenomic era, genetic testing and the tailoring of treatment to individual genotype may eventually become standard medical practice. With this in mind, the aim of our study was to gauge the knowledge base of cardiologists at the present time about genetic risk factors for CVD and their attitudes toward genetic testing and counseling. Surveys probing these issues were mailed to 882 randomly selected board-certified cardiologists whose names were provided by the American College of Cardiology. The overall response rate was 10.3% (91/882). A relatively low percentage of respondents reported awareness of the potential susceptibility genes mentioned above, ranging from 52.7% aware of FVL to 18.7% aware of BNa. Despite this low level of recognition, 84.7% of respondents felt that the evidence for the existence of susceptibility genes for CVD was strong or fairly strong. Around seventy-three percent of respondents either agreed or strongly agreed with the statement that they would offer genetic testing for mutations to patients with a family history of CVD if they were aware of its availability. Around seventyeight percent of respondents agreed or strongly agreed that genetic counseling is ∗ Introduced

by Randi Zinberg.


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an integral part of offering genetic testing. Around fifty-nine percent of respondents disagreed or strongly disagreed with the statement that they possess adequate knowledge of the genetic risk factors for CVD, and 75.8% of respondents indicated that a seminar or review session on this subject would be helpful to their practice. These results indicate that there is a clear need for cardiologist education regarding susceptibility genes for adult-onset CVD, as well as the availability of and proper uses of genetic testing and counseling. A Qualitative Investigation of Student and Supervisor Perceptions of Live Supervision in Genetic Counseling∗ S. Hendrickson, P. McCarthy Veach, and B. LeRoy University of Minnesota, Minneapolis, Minnesota Objective: Live supervision of genetic counseling students is critical for ensuring quality client care and student clinical skill development. However, no research has studied this primary supervision method. The objective of this study was to investigate student and supervisor experiences of live supervision. Purpose: To describe the nature and impact of live supervision and to highlight those aspects which appear to comprise effective practice and to develop recommendations for improving those practices which may be less than optimal. Methods: Second-year genetic counseling students and clinical supervisors from three Midwestern cities were recruited to participate in separate focus groups to assess their perceptions of (1) the nature of live supervision in genetic counseling; (2) why this method is used; (3) the strengths and limitations of live supervision; (4) its impact on students, supervisors, and clients; and (5) how live supervision can be improved. Results: Three student focus groups (n = 15) and three supervisor focus groups (n = 11) were conducted. A modified Consensual Qualitative Research method was used to analyze focus group transcripts and resulted in 84 “domains” or topics areas. Results suggest that live supervision is an essential and effective method that promotes student skill development and professional development for both students and supervisors. There is a lack of formal training regarding supervision; most learning is trial and error. Students worry about being evaluated, and supervisors wonder if they are providing supervision effectively. Both samples emphasized that client care should not be compromised. The participants made 31 recommendations for improving live supervision. Conclusions: Live supervision appears to be a vital, viable, method for training genetic counseling students. Recommendations for practice and suggestions for further research will be discussed. Web-Based Multidisciplinary Distance Education Course K. Icke, T. DuBose, S. Barringer, B. Karczeski, and B. Butler University of Arkansas for Medical Sciences, Department of Obstetrics and Gynecology, Little Rock, Arkansas ∗ Introduced

by Bonnie LeRoy.


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The University of Arkansas for Medical Sciences (UAMS) has developed a 2-credit-hour web-based course for senior students of the Diagnostic Medical Sonography (DMS) program. This course, entitled “Advanced Obstetrical Sonography, Genetics, and Pathology” is the result of a collaboration between the DMS program and the Arkansas Reproductive Genetics Program. The course consisted of 16 web-based education modules, weekly assignments, 4 problem-based case studies, and 2 exams. Lectures were posted using WebCT software and exams used Perception web testing program. Components of WebCT include text and graphic lectures, assignments, and class discussion with different bulletin board threads for each weekly topic. Both the midterm and final exams were monitored at remote sites. Class topics included general genetics, aneuploidies, multifactorial inheritance, kidney and urinary tract disorders, skeletal dysplasia, neural tube defects, abdominal wall defects, teratogens, and grief and psychosocial support. Each lecture included links to other educational web sites concerning that particular lecture subject. Additionally, students were given weekly topics for bulletin board discussion and debate. Finally, four problem-based cases were presented during the semester to improve the students’ clinical thinking skills and allow them the opportunity to apply the concepts covered in lecture to real-life situations. The students performed self-evaluations concerning their comfort level with the Internet and their perception of their own computer literacy. After the course, students evaluated course design, use of the Internet for distance education, and their overall satisfaction with the course. We are pleased to report a satisfaction rating of 4.2 on a 5-point Likert scale. In the future, we hope to develop a genetic counseling program for the underserved Great Plains region, as well as offer continuing education credits via distance education. This course was offered as a pilot for the above proposed programs and is now offered as an ongoing part of the Diagnostic Medical Sonography curriculum. Understanding Family History and Alzheimer’s Disease Within the Hispanic Population∗ A. Isa, R. Mayeux, and J. Williamson Sarah Lawrence College, Bronxville, New York Alzheimer’s disease (AD) is a complex genetic disorder. While there have been many advances in the understanding of the genetics of the disease, there are few genetic studies in the Hispanic population. Hispanics currently represent 4–6% of the population over the age 65. However, they are the most rapidly increasing ethnic group in this age category in the United States. The Estudio Familiar de la Influencia Gen´etica en Alzheimer (EFIGA) is a 5-year study of Caribbean Hispanic families in the Dominican Republic, Puerto Rico, and New York City. The goal of the EFIGA study is to localize genes that may increase the risk of AD among Caribbean Hispanics. The goal for this pilot project is to assess the knowledge of the EFIGA study population regarding the genetics of AD, genetic counseling, and genetic testing. Data for this pilot study was obtained ∗ Introduced

by Jennifer Williamson.


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from the 203 families participating in the EFIGA study. This 5-month pilot study used phone interviews to assess unaffected, first-degree relatives of the proband regarding their knowledge of AD risk, genetic counseling, and genetic testing. We contacted 75 individuals from 35 families living in the Dominican Republic, Puerto Rico, and New York City. We interviewed 30 individuals from 17 different families. Around seventy-three percent of study participants reported an interest in a genetic test that could determine whether or not they would develop the same disease as the affected family member. Study participants had different risk perceptions in terms of developing the same disease as the affected family member. Twenty percent of study participants were aware of genetic counseling as a profession. Overall, study participants expressed their interest in learning about the disease in their family through genetic counseling services. Preliminary results from this pilot study demonstrate the need to educate the Hispanic community regarding the genetics of AD, genetic counseling, and genetic testing. This pilot study allowed the study investigator the opportunity to identify the misconceptions, needs, and perceptions the Hispanic population has regarding the genetics and psychosocial aspects of AD. Future research with a larger study sample is required to assess with greater accuracy the results obtained from this study. What Happens During the Prenatal Genetic Counseling Session: Exploratory Study of Genetic Counseling∗ Y. Kemel, B. Bernhardt, D. Hadley, and D. Roter The Johns Hopkins University, Baltimore, Maryland Most studies of the genetic counseling process have been based on clients’ and professionals’ self-reports in surveys and interviews. Few studies, however, have produced data on what actually happens during the genetic counseling session. To examine the content, structure, and client satisfaction of genetic counseling encounters, we designed an exploratory study of the communication process in prenatal genetic sessions with clients who had abnormal triple screen results. We recorded ten genetic counseling sessions conducted by five genetic counselors from two prenatal diagnostic centers. Audiotapes of the sessions were transcribed and analyzed using Roter Interaction Analysis System and qualitative content analysis. The time spent obtaining family history, discussing triple screen results, chromosomes, and inheritance, talking about amniocentesis and ultrasound procedures as well as decision-making discussions was estimated from the audiotapes. Patient satisfaction was measured by an exit questionnaire. Results show that the consultations were dominated by biomedical information. Fifty percent of the genetic counselors’ talk was concerned with biomedical information exchanges and discussions, while the discussion about psychosocial and lifestyle issues amounted to 6% of counselor talk and 5% of client talk. The length of consultations did not show a strong association with the amount of psychosocial discussions. Although overall satisfaction with the counseling was ∗ Introduced

by Barbara Bernhardt.


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high, data from satisfaction questionnaire revealed that in 60% of the sessions the clients stated that the information did not lessen their worries. The content of these prenatal consultations was consistent with previously published genetic counselors’ self-reports. Most of the variability was detected in counselors’ discussions of lifestyle aspects of the disorders, decision-making deliberations with clients, and in anticipatory guidance provided in some consultations. The communication process of consultations was most consistent with an education-oriented model of genetic counseling. The relevance of these findings for clinical practice and training of genetic counselors, as well as directions for future research, are discussed. Exploring the Media’s Perception of Genetic Counseling∗ J. McCarrier Sarah Lawrence College, Bronxville, New York While it is clear that the NSGC needs to be effective in its efforts to communicate what genetic counselors do and the profession’s value in the health care marketplace, the NSGC has been only somewhat successful in an attempts to market itself and to achieve recognition by the media, the medical community, and the general population. Given the media’s presumed and potential misunderstanding of genetic counseling, a pilot study was undertaken in an attempt to define the media’s true level of comprehension of the field. Working in conjunction with the NSGC’s vision and mission, the pilot study’s goals were to determine what the media currently knows about genetic counseling and what it perceives as newsworthy topics related to the field, and to make recommendations for the NSGC web site. Qualitative interviews were conducted with seventeen media representatives from radio and television broadcasting as well as print media, including magazines and newspapers. All respondents stated familiarity with genetic counseling; however, some responses suggested otherwise. A majority had difficulty distinguishing between counseling and genetic testing, and only two interviewees mentioned the psychosocial aspect of the field. Of the four individuals aware that the NSGC existed, only one was familiar with its web site. Story ideas for media coverage ranged from the cutting edge of molecular genetics to discrimination resulting from genetic testing. More than half of those interviewed would rely on the Internet as a resource to find information on genetic counseling. Additional resources mentioned included physicians, university medical centers, Medline, and genetic counseling training programs. Information the media would expect to find on the NSGC web site included how to obtain genetic counseling, what to expect at a session, information on the professional accreditation process, and contact information for a designated person to assist with media inquiries. Many interviewees asked questions and were excited to learn more about the profession. Additionally, several individuals commented that they were inspired to cover genetic counseling in their specific media formats. ∗ Introduced

by Caroline Lieber.


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Genetic Counselors’ Views on Referring Patients to Gene Identification Research E. Melvin, S. Estabrooks, and M. Speer Duke University Medical Center, Durham, North Carolina Research indicates patients want their genetic health care providers to notify them of research opportunities. Because genetic counselors are poised as excellent referral sources for gene identification research, we sought to inquire what percentage of genetic counselors refer to gene identification research, what factors would keep them from referring families, and what they perceive as the most important factors to consider regarding whether they would refer a patient or family. A survey was developed and distributed at the 2000 NSGC Annual Education Conference, and 123 surveys were returned. Eighty-one percent of respondents always or almost always refer their patients with Mendelian disorders to gene identification studies, whereas only about 20% always or almost always refer their patients with complex disease. When asked how likely certain factors are to keep them from referring patients to gene identification research, factors indicated to be at least somewhat likely to keep them from referring include not having enough time (82%), thinking the quality of the research lab is poor (81%), participation would be difficult for patient (79%), research results are not available (59%), and they are not familiar with the laboratory (53%). Most counselors did not think lack of personal benefit from referring (98%), mixing clinical visits with offering opportunities for research participation (94%), or the fact that their employer does not allow them (91%) would keep them from referring. When asked to rank factors most important when deciding whether to refer a patient, the three highest ranking factors were, in order of ranking, whether or not the research laboratory provides results, pressure from families to investigate research opportunities, and familiarity and comfort with the researcher. These results suggest genetic counselors often refer patients to studies of Mendelian inheritance, but may not be as cognizant of the research needs of their clients with complex disorders. More investigation is needed to determine whether there is truly a differential rate of referral for Mendelian versus complex disease and, if so, the reasons behind this. In general, understanding the factors that inhibit or enhance referrals to research studies can serve to increase the satisfaction of clinical patients interested in research opportunities and increase the overall participation in research, thereby speeding the progress of diagnostic and therapeutic interventions for genetic disease. Licensure of Genetic Counselors: Success in Utah C. Miller, C. Solomon, B. Baty, L. Berkheim, M. Cantwell, K. Dent, B. Hafen, J. McDonald, L. Mensching, J. Palumbos, L. Pho, A. Poss, E. Rosenthal, and V. Venne University of Utah, Salt Lake City, Utah State licensure enhances a professional group’s legitimacy, protects the public from harm, and increases public awareness of the profession. For health care


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professionals, licensure may be a prerequisite for the establishment of reimbursement schedules from Medicaid, Medicare, and commercial insurers. Licensure of genetic counselors (GCs) was attempted in Utah in hopes of achieving these goals. The only state with prior success in achieving licensure was California, in the fall of 2000. The experience in Utah, a state with less than 20 GCs, may provide a useful model for other states. As a first step, support for licensure was elicited from the director of the Department of Occupational and Professional Licensure (DOPL). Members of the Utah Senate and the House of Representatives were chosen to sponsor the bill. The Utah Medical Association (UMA) was contacted to seek their endorsement. To receive such, UMA requested completion and submission of a licensure criteria questionnaire. Several other key state and national organizations provided written letters of support. Utah’s Sunrise Law requires professions applying for licensure to answer a 52-question document and represent at a hearing of the Sunrise Committee (3 Senators, 3 House of Representatives, and 6 Governor appointees). The Sunrise Committee makes a recommendation to the Legislature about whether or not it supports the licensure effort for each profession that applies. GCs, MD geneticists, and patients testified before the Sunrise Committee, which voted to support licensure. Senate Bill 59 (SB59) was drafted by an attorney in the Office of Legislative Research and General Counsel with the assistance of Utah’s GCs. GCs created a bullet sheet of key points for the Senator sponsoring SB59 to aid in presentations to the Legislature. GCs, MD geneticists, and patients testified before the House and Senate Committees. Both the Senate and House passed the bill during the 2001 legislative session. Throughout the legislative process, from the Sunrise Committee to the Senate and House, GCs, MD geneticists, supporting MDs, colleagues and patients helped lobby key politicians through e-mails, phone calls, and personal meetings. On March 15, 2001, SB59 was signed into law by Utah’s Governor. Utah’s successful pursuit of licensure sends a powerful message: through collaboration and dedication even states with few practicing GCs can succeed in obtaining licensure. Confidentiality vs. Duty to Warn At-Risk Relatives: Experiences of Genetic Counselors∗ R. Nation, E. Jeungst, G. Wiesner, A. Matthews, and N. Robin Case Western Reserve University, Cleveland, Ohio When a patient refuses to inform relatives of their risk for genetic disease, genetic counselors (GC) are faced with conflicting medical and ethical principles. Guided by the principal of autonomy, GCs are obligated to respect and protect their patients’ right to privacy and confidentiality. However, the principles of beneficence and nonmaleficence may compel GCs to warn at-risk relatives, even without patients’ consent. There is little to guide GCs when faced with such a situation. There is no legal standard, and the guidelines of various professional and medical societies leave considerable room for subjective interpretation. Furthermore, most published studies have been based on how health care professionals predict ∗ Introduced

by Anne L. Matthews.


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they would respond to hypothetical situations involving this dilemma. Interestingly, most studies have found that GCs were less likely than medical geneticists to violate a patient’s right to confidentiality. Methods: In an effort to examine the actual clinical impact of this issue, we conducted a study that explored GC’s experience with this conflict. Approximately 1300 members of the National Society of Genetic Counselors (NSGC) were invited to answer a survey that was posted on the Internet or available at the 19th Annual NSGC Conference. The survey addressed GC’s experience with patients’ refusal to share genetic information with relatives, with consideration to warn as well as actually warning at-risk relatives, resources utilized, factors considered when attempting to resolve this dilemma, and GCs’ knowledge of the guidelines and laws pertaining to this issue. Results: While 119/259 respondents had had a patient refuse to notify an at-risk relative, only 24 (9.2%) had seriously considered warning at-risk relatives without patient consent. Three factors consistently made the GCs less likely to warn: patient’s potential emotional reaction, the relative and patient’s emotional relationship, and the chance that the relative could be aware of the disease by another means. Several medical factors, such as the magnitude of risk for the relative, made the majority of GCs more likely to warn relatives. Discussion: These results suggest that this conflict is uncommon. While there were several factors that may have contributed to this relative infrequency, emotional factors were the most critical for the respondents in deciding not to warn at-risk relatives. Respondents also indicated that notifying relatives without patient consent was outside the GC’s role and responsibility. Knowledge of Genetic Discrimination in Health Care Practitioners in a Major Metropolitan Area R. Nedelcu, P. Mantha, S. Sand, J. Yu, J. Choi, K. Blazer, B. Schwerin, S. McCaffrey, D. MacDonald, and J. Weitzel City of Hope National Medical Center, Clinical Cancer Genetics, Duarte, California While a great deal of discussion has taken place in the genetics community regarding discrimination based on genetic testing information, little effort has been made to formally assess the knowledge and beliefs of other healthcare professionals, especially those who play an important role in access to genetic counseling and/or genetic testing, such as primary care physicians, nurses, and others. To address the state of knowledge on state and federal laws and beliefs about genetic discrimination, as well as assess referral patterns influenced by these issues, we administered a 10-question survey to participants of the fifth annual education symposium entitled “Advances in Cancer Screening and Prevention: Practical Applications Across the Full Spectrum of Risk.” One hundred and twenty-nine questionnaires were collected. The respondents were mainly nurses and physicians, comprising 37 and 34% of the respondents respectively. The remainder included non–cancer-genetics genetic counselors (14%), and others such as research scientists, graduate students, and genetic technologists (15%). Interestingly, 51% of respondents believed that individuals with a known genetic mutation have difficulty obtaining insurance. Twenty-four percent would not encourage genetic testing


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despite the presence of a family history of cancer. Fifty-six percent are concerned about genetic discrimination in a woman diagnosed with breast cancer at 32, but 66% would not be concerned about same for the woman’s unaffected sister. This is an important observation, since the woman with cancer would be more likely to experience insurance discrimination because of her cancer diagnosis, not her genetic status, while the greatest potential for insurance discrimination exists for the unaffected carriers of predisposing mutations. An unexpected finding was that greater than 89% of respondents believe that the potential for genetic discrimination exists regardless of any state or federal legislation to protect against such actions. Additionally, 25% of respondents believed that there were documented cases of insurance discrimination of unaffected individuals carrying a genetic predisposition, when in fact, a thorough legal literature review revealed no such instances. We conclude that a great deal of misinformation exists regarding insurance discrimination based on genetic testing for cancer predisposition, and education efforts for health care professionals are an important first step in addressing this issue. Educating High School Students About the Importance of Folic Acid in the Prevention of Neural Tube Defects: The Genetic Counselor’s Role∗ J. Permuth, B. LeRoy, and P. McCarthy Veach H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida Neural Tube Defects (NTDs) are common birth defects that occur very early in fetal development. Dietary folic acid supplementation has been shown to play a role in preventing these birth defects. It is recommended that all women of childbearing age consume 400 mcg of folic acid daily to reduce the chance of having an affected child. Since 95% of pregnancies among adolescents are unplanned, this information is especially important for this population. The main objective of this study was to evaluate a method of educating adolescents about the importance of folic acid consumption. A total of 235 high school health education students (127 females, 108 males) from three Midwestern public high schools participated in this study. Participating students completed parallel versions of a testing questionnaire, prior to and immediately following a presentation on folic acid. Participating teachers (n = 4) completed a postpresentation questionnaire evaluating the appropriateness and importance of the materials used. The student questionnaires assessed the impact of the presentation by measuring gains in knowledge and any differences in health attitudes and behaviors from pretest to posttest. Student knowledge scores were significantly higher at posttest than pretest (mean = 87.6% vs. mean = 64.3% correct, respectively). There were no significant gender differences. The presentation appeared to positively impact health-related attitudes and behaviors, as over one-third of female participants stated that they would be very likely to begin consuming a diet that includes the recommended daily allowance of folic acid, and more than one-third of the entire sample stated that they would be very likely to share information about folic acid’s importance with female friends and family. The findings also suggest that males are an important audience, as evidenced by the present sample’s willingness to share this information with females ∗ Introduced

by Bonnie LeRoy.


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in their lives, and by the lack of gender differences in either pre- or postpresentation knowledge. This study indicates that genetic counselors can play an important role in educating adolescents about the importance of folic acid. High school health education classes appear to be an optimal setting for educating adolescents about this topic, and according to the participating teachers, the materials developed for this study were appropriate for the students’ knowledge base, grade level, and other demographics. Facilitation of Patients Into Off-Site Research Studies: Resolving the Issues in the Institutional Review Board and Our Standard Practice L. Pho, C. Solomon, L. Mensching, and V. Venne Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah Knowledge gained through genetic research leads to better understanding of disease and improvement in medical management. These advances are important, especially to patients affected with rare inherited cancer syndromes. The rarity of these syndromes often requires researchers to recruit affected patients nationally. Genetic counselors and physicians are a reliable resource from which patients can learn of these studies. Patients may be interested in research to further scientific knowledge or they may receive benefits such as research genetic testing that can be confirmed in a clinical laboratory. Currently, commercial genetic testing is unavailable or unaffordable for many rare genetic diseases. If genetic testing is a component of a research protocol, there may be reduced or no cost to the participant. By facilitating participation into off-site research, the clinician fulfills the need for suitable and appropriate patient referral, ensures patient understanding of research, and achieves continuity of medical care, including interpretation of research results, if available. In our practice, part of our role is to identify and facilitate patient involvement into appropriate off-site research projects. In past years, we expedited patient involvement into off-site projects without local Institutional Review Board (IRB) approval because the off-site protocols had IRB approval at their own institutions. Recently, public scrutiny of human subject protection in research has altered our institution’s IRB oversight scope. Although referring to off-site research is an established part of our clinical service, our IRB interpreted that they had obligations regarding this aspect of clinical care. We desired to preserve our relationship with patients while supporting their involvement in research that may have future medical implications. Our IRB desired to oversee research to protect human subjects and minimize institutional liability. Balance of two separate goals was needed. We developed and received IRB approval for an umbrella protocol to appropriately facilitate patient participation into off-site studies. Our involvement with respect to the research is limited to providing education, obtaining informed consent, drawing blood, disseminating questionnaires, and forwarding appropriate medical records and pedigree information, as well as interpreting test results and recommending medical management. Considerations of subsequent off-site protocols will be reviewed through our local IRB as an addendum. The final product has allowed us to continue with our current comprehensive practice while protecting our patients as they become research subjects.


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Current Attitudes and Knowledge of Genetic Professionals Regarding βThalassemia Major∗ R. Sawh Sarah Lawrence College, Bronxville, New York The universal prevalence of β-thalassemia, as well as recent advances in management, makes it worthwhile to explore the current state of knowledge of this hereditary condition. Genetic professionals have a certain level of impact upon a couple’s decision regarding elective prenatal diagnosis, as they are often the ones who explain β-thalassemia to carriers who are considering having children or who are already pregnant. It is therefore critical that these health care providers have the most accurate and current information about all the medical and genetic aspects of this condition. The objective of our study was to assess the level of knowledge and perceptions that genetic professionals possess about individuals with β-thalassemia major. The goal was to ascertain whether a discrepancy exists between the information disseminated by genetic professionals about β-thalassemia and the lives currently led by individuals, the condition. An original study-specific questionnaire was developed in order to determine the extent of detailed information held by the respondents. The study sample included genetic counselors, geneticists, and genetic counseling students. Also included in the sample was a group of genetic counseling students who had attended a presentation given by an individual with β- thalassemia. These students were labeled as having a “personal encounter” and their responses were analyzed separately from the responses of the other genetic counseling students. Statistical analysis of the completed questionnaires from 132 respondents demonstrated that the majority acknowledged improvements made in the lifestyles of people with β-thalassemia. However, only a small minority of respondents were accurate in citing current average life expectancy. Additionally, most respondents were aware that Mediterranean ancestry confers a higher risk for β-thalassemia, but considerably less recognized other ethnicities also at risk. These research results reveal that although genetic counselors are not necessarily current with all aspects of this disease, such as treatment initiation and regimens, life expectancy and the possibility of bone marrow transplantation as a curative surgery, those with “personal encounters” were significantly more knowledgeable about many of these topics, as were geneticists. The study thus demonstrates the value for genetic counseling training programs to introduce students to the experience of interacting with affected individuals in order to broaden their understanding of current management of hereditary conditions. A Needs Assessment of Elementary School Teachers Regarding Genetic Conditions† D. Wagner Arcadia University, Glenside, Pennsylvania ∗ Introduced

† Introduced

by Bruce Haas. by Kathleen Valverde.


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Historically, elementary school teachers have not been well informed about the health conditions, especially genetic conditions, of children in their classrooms. The purpose of this study was to assess elementary school teachers’ level of knowledge of common genetic conditions found in children. Sixty-two surveys were distributed to elementary school teachers in four school districts, of which we received a 76% return. The survey questioned teachers on the source of their information about genetic conditions, type of information they received and if it was adequate. Eighty-three percent reported having had a student with a genetic condition in their classroom, with Tourette’s syndrome being the most common of these. Parents were the main informants to teachers on both the diagnosis and information about the condition in 67% of these cases. Seventy-seven percent of teachers thought that there was sufficient communication between the parents of affected children and the teachers. Interestingly, 33% reported that no one gave them any information on specific conditions. Twenty percent of the teachers said that their school districts provide enough information on genetic conditions. Only 7% of the surveyed teachers had ever contacted support groups for specific conditions and only 24% knew of this resource. Thirty-eight percent used the Internet to find additional information. Fifty-six percent found that most information did not address the concerns of a teacher. Many felt that the written material was too difficult or too technical. A mere 20% of teachers working with special needs children thought that the communication with specialists was sufficient. This low percentage indicates that there is a need to bridge this communication gap, which could easily be addressed by the inclusion of a genetic counselor. Fifty-two percent of the respondents felt unprepared to teach a child with a genetic condition while only 34% felt they were prepared. The results of this survey suggest that there is an unmet need for teachers to have assistance in obtaining genetic information about their students. Genetic Counselors can meet this need by identifying appropriate resources for parents and information for teachers. The information and resources that genetic counselors have available to them would be of great value to parents, teachers, and other school personnel. Development and Evaluation of a Brochure Outlining the Genetic Counseling Profession: A Resource for Academic Advisors∗ E. Wahl, J. Indelicato, B. Lerner, K. Niendorf, and W. Steinhart Brandeis University, Waltham, Massachusetts Empiric and anecdotal evidence has indicated that a proportion of undergraduate professors who serve as student advisors are unfamiliar with the genetic counseling profession (MacKay, Warren). The purpose of this project was to design and evaluate the efficacy of an educational tool (in the form of a brochure) outlining the genetic counseling profession. The brochure’s target audience would be undergraduate advisors. All directors and current students of genetic counseling programs accredited by the American Board of Genetic Counseling (ABGC) and those with ABGC accreditation pending were contacted via e-mail and asked to ∗ Introduced

by Barbara Lerner.


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respond to a questionnaire. The questionnaires were designed to obtain directors’ and students’ input on the content of the brochure. The results of the questionnaire aided in the development of a draft of the brochure. This draft was sent to a sample of professors in biology, psychology, and sociology departments. A survey designed to evaluate the brochure’s effectiveness accompanied the draft of the brochure. Results indicated that the brochure increased professors’ knowledge of genetic counseling. After having reviewed the brochure, professors reported that they would be more apt to suggest genetic counseling as a career option. Greater than 90% of the survey respondents reported that this brochure is an effective method of informing undergraduate professors and advisors about the genetic counseling profession. It is therefore concluded that the brochure is an effective method of increasing undergraduate professors’ knowledge and awareness of genetic counseling, and it can serve as a useful resource in their career counseling. A Multidisciplinary Approach to Assist Public Health Care Providers in Educating Clients Regarding Folic Acid N. Warren, E. Peach, and M. Wille University of Cincinnati, Cincinnati, Ohio Periconceptional ingestion of 0.4-mg folic acid daily is recommended by the CDC for women of childbearing age to significantly reduce the occurrence and recurrence of neural tube defects. There are additional benefits of optimal maternal folic acid levels in reducing risks for other malformations such as congenital heart defects, obstructive urinary tract anomalies and orofacial clefts. The importance of folic acid becomes a compelling public health matter when we consider that optimal levels in adults reduces risks for common adult-onset conditions such as heart disease and colon cancer. Genetic counselors routinely educate clients about the benefits of folic acid. We can expand our professional role by providing educational strategies to assist public health care providers who have limited access to resource materials and professional information. This project targeted 106 clinic-based nurses (51%), social workers (6%), WIC dietitians (20%), and clerks (25%) affiliated with four primary public health care agencies in Ohio and Kentucky. These providers serve prenatal, family planning, pediatric, adult, and WIC clients. We presented 1-hour agency-based inservices, emphasizing the multiple benefits of folic acid for women who may or may not be contemplating pregnancy, and their family members. Pre- and posttest knowledge scores were measured with a 20-item multiple-choice questionnaire. Mean posttest scores were significantly higher than pretest scores for each profession ( p < 0.0004). Before and after each inservice, and 3 months later, participants rated their interest in and ability to provide folic acid client education. Interest and ability measures were significantly increased immediately following the inservice ( p < 0.0001), but the 52% of providers who responded after 3 months reported a decrease in interest ( p = 0.0026) and ability ( p = 0.0002). However, interest was still significantly higher ( p = 0.0031) than at pretest. Time was the most frequently noted barrier to discussing folic acid in clinic. Our project included demonstration of the diverse timing, methods, and materials available to integrate folic acid client education


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into clinic settings. The providers reported brochures and pocket calendars were the preferred materials to educate and interest clients. A counseling-aids book we developed to help providers educate clients was utilized primarily for personal use by the participants. Clinic-based health care providers are in a position to include, reinforce, and monitor their clients’ understanding and compliance with public health recommendations. Our results suggest that access to professional education and versatile materials emphasizing the multiple benefits of folic acid motivates clinic-based health care providers to incorporate this information into routine clinical practice. The Role of Physicians in Family Decision Making: Enrollment of Minors in Genetic Susceptibility Research∗ M. Yelton University of MD, Baltimore, Maryland In the near future, researchers may request child/adolescent involvement in genetic susceptibility research concerning adult-onset diseases, such as breast cancer and heart disease. Before testing can commence, informed consent must be obtained. In this study we assess the role of physicians in helping families make the decision regarding whether to enroll their children in such research. Families may seek advice from physicians regarding genetics, research, and the specific disease. We conducted open-ended interviews with 15 families at risk for breast cancer and 21 families at risk for heart disease to assess how parents perceived the role of physicians. Interviews were also conducted with 12 physicians named by the families, to assess the role physicians believed they have in helping families make decisions regarding genetic research. We found that most parents do not spontaneously think of consulting a physician, and if they do, it is most likely a nonpediatrician because they were seen as having more knowledge about such research. A few parents did see a role for the pediatrician, since he was the physician who knew the child developmentally. All of the physicians felt it was the role of pediatricians to help families decide. During the informed consent process, researchers may want to advise parents who are concerned about their child’s psychological and developmental ability to participate in genetic susceptibility research to speak with the child’s pediatrician.

∗ Introduced

by Barbara Bernhardt.

Abstracts from the Twenty-First Annual Education Conference of the National Society of Genetic Counselors (Phoenix, Arizona, November 2002).

Abstracts from the Nineteenth Annual Education Conference of the National Society of Genetic Counselors (Savannah, Georgia, November 2000).

Abstracts from the Seventeenth Annual Education Conference of the National Society of Genetic Counselors (Denver, Colorado, October 1998).

Abstracts from the Twenty-Second Annual Education Conference of the National Society of Genetic Counselors (Charlotte, NC, September 2003).

Abstracts of papers and posters presented at the Fifteenth Annual Education Conference of the National Society of Genetic Counselors.

Abstracts of the 2014 International Society Developmental Psychobiology Meeting, November 12-14, 2014, Washington, DC, USA.

Abstracts from the American College of Pediatric Radiology Annual Meeting, May 14-17, 2014, Washington DC.

An Oral History of the National Society of Genetic Counselors.

Abstracts of the Caribbean Urological Association 16th Annual Conference, November 7-8, 2014, Montego Bay, Jamaica.

Annual meeting of the American Epilepsy Society. Seattle, Washington, December 6-9, 1992. Abstracts.

Abstracts of the 54th Annual Teratology Society Meeting, June 28-July 2, 2014, Bellevue, Washington.

The American Society for Cell Biology 32nd annual meeting. November 15-19, 1992, Denver, Colorado. Abstracts.

Abstracts of the Annual meeting of the American Academy of Otorhinolaryngology, September 9-12, 2012 , Washington DC, USA.

Abstracts of the 54th Annual Conference of the Indian Society of Gastroenterology in association with the Indian National Association for Study of the Liver and the Society of Gastrointestinal Endoscopy of India. November 28-December 1, 2013. Gujarat, India.

Abstracts of the RCOG National Trainees Conference (NTC) 2014, 27-28 November 2014, Manchester, United Kingdom.

Abstracts of papers presented at the Thirteenth Annual Education Conference : 25 years of genetic counseling Expanding roles, extending horizons.

Abstracts of the British Psychosocial Oncology Society, 2015 Annual Conference, 19 - 20 March 2015, England, UK.

Abstracts of the British Psychosocial Oncology Society, 2014 Annual Conference, 27 - 28 February 2014, Preston, UK.

Proceedings of the 8th Annual Conference on the Science of Dissemination and Implementation : Washington, DC, USA. 14-15 December 2015.

Poster Abstracts of the ISPD 19th International Conference on Prenatal Diagnosis and Therapy, Washington, DC, USA, 12-15 July 2015.

Abstracts of the 48th Annual Scientific Meeting of the Vascular Society of Great Britain and Ireland, 27–29 November 2013.

Abstracts of papers presented at the Fourteenth Annual Education Conference : Conditions that affect adults.

Abstracts of the 41st Annual Meeting of the Austrian Diabetes Society. November 21-23, 2013. Salzburg, Austria.

Abstracts of the 2013 Annual Scientific Meeting of the Irish Thoracic Society (ITS). November 15-16, 2013. Derry, Ireland.