Journal of Genetic Counseling, Vol. 3, No. 4, 1994

Abstracts of Papers Presented at the Thirteenth Annual Education Conference 25 Years of Genetic Counseling... Expanding Roles, Extending Horizons 1'2

Expanding Horizons: Career Opportunities in the Private Sector

B. Balkite, A. Cronister, and V. Venue Integrated Genetics, Santa Fe, N e w Mexico Since the first formal class graduated in 1969, professional roles of genetic counselors have expanded. Today many genetic counselors are employed in the private sector in nontraditional roles. F o r some, these positions represent an alternative career ladder for counselors. The objective of this study was to identify the scope of activities of those individuals who were trained in genetic counseling programs and are employed in a position in which their primary role does not involve providing direct patient care. Questionnaires were sent and telephone interviews were conducted over a 3-month period with counselors in 18 different companies. The number of counselors in a company varied from one to eight. Questions included items such as job responsibilities, reporting structure, initial knowledge about the position and benefit packages. Data about the reasons counselors have moved into a nontraditional role, level of job satisfaction, salary information and benefit packages, and current job descriptions will be presented. Finally, reasons for recommending (or not recommending) that other genetic counselors consider employment in the private sector will be presented. 1National Society of Genetic Counselors, 2Correspondence should be directed to Robert G. Resta, M.S., Swedish Medical Center, P.O. Box 14999, Seattle, Washington 98114-0999. 3Institutional address is that of the first author.

295 1059-7700/94/1200-0295507.00/I © 1994 National Society of Genetic Counselors, Inc.

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Genetic Counselling in Australasia: Past, Present and Future K. K. Barlow-Stewart

Royal North Shore Hospital, Sydney, NSW, Australia In 1986, a Working Party of the Human Genetics Society of Australasia (HGSA) was set up to examine the training requirements and role of a new professional in Australasia in clinical genetics: the genetic counsellor. Prior to this time, all genetic counselling was provided by clinical geneticists and Ph.D. geneticists but with increasing demand for services it was recognized that there was a need for a team approach to provide optimal service and education. The Masters Training Programs offered in North America were examined but education differences and geographic concerns, as well as the small populations in Australia and New Zealand, rendered the establishment of similar programs unfeasible. A policy which was produced by the Working Party in 1989, and accepted by the HGSA, was for a Training and Certification Program admin-istered by a Board of Censors for Genetic Counselling of the Society. The postgraduate training Program is in two parts and is undertaken by graduates from nursing, social work, psychology, education and science. To qualify for Part I, a candidate must be able to demonstrate successful completion of University/Tertiary Institution courses in both genetics and counseling which are available throughout Australia and New Zealand. The content of these courses must satisfy a checklist devised by the Board of Censors and updated according to developments in the fields. Part II of the training requires a candidate to have functioned under supervision as an associate genetic counselor for at least 2 years in, or associated with, a clinical genetics unit. Continuing education in genetic counseling, a log book documenting at least 50 cases per year demonstrating experience in all aspects and areas as well as 20 long cases are required for Part II completion and the award of H G S A Certification in Genetic Counselling. The first candidate was certified in 1990 and to date 8 genetic counselors have received H G S A certificate. Currently, 33 associate genetic counselors are in training. In most States an outreach program has been established and funding has recently been obtained for a further 23 positions to be created with state-funded hospitals.

Family History of Coronary Heart Disease and Carotid Artery Atherosclerosis: The Aric and FHS Studies J. Bensen, H. Tyroler, M. Higgins, M. Province, R. Li, and R. Williams

Bowman Gray School of Medicine, Winston-Salem, North Carolina The association between family history of coronary heart disease (CHD) with morbidity and mortality due to atherosclerotic sequelae is not well documented in population-based samples. Even less is known about the relationship between a family history of CHD and asymptomafic disease, i.e., pre-clinical atherosclerosis. We report on the relation between a family history of coronary heart disease - - summarized in the Family Risk Score developed by Hunt and c o l l e a g u e s - and asymptomatic atherosclerosis at the extracranial carotid arteries, measured by high resolution B-mode ultrasound. The

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Family Risk Score (FRS) is based on age-race-sex-specific history of CHD in relatives of 3093 African Americans and 9351 White probands aged 45 to 64 years, in the four community-based cohorts of the ARIC Study. Intima-media thickness of the extracranial carotid arteries was measured using a standardized scanning and reading protocol. The analyses were restricted to individuals free of CHD (838 men and 817 women were excluded from analysis because of various symptomatic and electro- cardiographic manifestations of CHD). Analyses of covariance models were used to estimate the association between family risk score and carotid artery intima-media thickness, with and without adjustment for the established risk factors for atherosclerosis shown below. The level of familial CHD was not statistically significantly different between African American and White probands, nor were there differences by race or sex in the association between the family risk score and the thickness of the carotid arteries. The standardized regression coefficients (xl0 '4) predicting the (log) FRS, adjusted for age, race, cigarette smoking, systolic blood pressure, total- and HDL-cholesterol, and Lp(a) are shown below, for individuals free of coronary heart disease at the time of examination. Proband N observations Carotid wall thickness Cigarette years Total cholesterol Systolic blood pressure

ap bp

Female free of CHD 6003 21.0b 22.6b 20.6b 19.86b

< 0.01. < 0.001 (~ standardized by the SD of each

Males free of CHD 4786 14.96b 21.610 14.940 9.63a

Xi).

These data indicate that a simple family risk score is significantly related to the thickness of the extracranial carotid a r t e r i e s - - w h i c h serves as an indicator of a t h e r o s c l e r o s i s - even after multivariable adjustment. The association between the family risk score and carotid artery wall thickness was of a magnitude comparable to that of the established atherosclerosis risk factors with the family risk score.

A Study of Familial Ovarian Cancer in South Carolina L. Berg, S. Young, K. Brooks, and T. Smith

University of South Carolina School of Medicine, Columbia, South Carolina Lynch et al. (1991) estimates that between 15-25% of ovarian cancer is familial. Within this familial variety is a subset of ovarian cancer involving hereditary factors which accounts for 5-10% of all ovarian cancer. The majority of hereditary ovarian cancer syndromes appear to be autosomal dominant. There are at least three reported genetic variants of ovarian cancer inherited in an autosomal dominant manner including a site-specific ovarian cancer syndrome, a breast-ovarian cancer syndrome, and the Lynch II syndrome. There is a need to identify women in South Carolina with a family history of ovarian cancer because there is no state registry that records occurrences of

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familial ovarian cancer and thus no system to aid in the detection of individuals who are at high risk for developing cancer. This is a retrospective study of 44 patients from a consecutive set of 62 patients treated for ovarian carcinoma at the Gynecologic Oncology Clinic at the Richland Memorial Hospital Center for Cancer Treatment and Research between January 1, 1993 and December 31, 1993. In the original set of patients, seven had died prior to the time of this study, eight did not have an epithelial variety of ovarian cancer, and three were unable to participate. In our study, only a small proportion of familial ovarian cancer cases clearly fit into the recognized hereditary patterns. Two women (4.55%), reported a history of at least one first-degree relative affected by ovarian cancer. However, 13 women (29.55%) reported a strong family history of cancers consistent with the hereditary breast-ovarian cancer syndrome and the Lynch II syndrome. These 13 families demonstrated several of the cardinal features of hereditary cancer syndromes which include early age of onset, patterns of multiple primary cancers, specific tumor associations, and vertical transmission. Race was the only significant demographic factor between our hereditary and sporadic ovarian cancer patients. All 13 of our patients who appeared to have a hereditary variety of ovarian carcinoma were Caucasian. No significant differences were detected between the two groups with regard to environmental and reproductive risk factors. Our pedigree findings indicate the need to better understand the heterogeneity of ovarian cancer in order to establish hereditary ovarian cancer syndrome diagnoses. With this knowledge, more appropriate genetic counseling can be provided and organ-targeted surveillance programs can be enacted.

Predictive Testing for Familial Adenomatous Polyposis (FAP): Clinical Follow-up Experience of the Steve Atanas Stavro G-I Cancer Registry T. Berk, S. Ga|linger, Z. Cohen, and B. Bapat Mount Sinai Hospital, Toronto, Canada FAP is an autosomal dominant disorder characterized by the development of numerous colorectal adenomas predisposing to cancer. Germline mutations of the adenomatous polyposis coli (APC) gene on chromosome 5q21 are responsible for the majority of cases of FAP. Predictive diagnostic testing is now possible for at-risk members of FAP kindreds. Recently, genetic heterogeneity has been reported for FAP. 1'2 However, the proportion of FAP kindreds not linked to the APC locus is not yet clear. Objective. The present study was undertaken to evaluate our experience with the clinical follow-up of at-risk relatives in FAP kindreds subsequent to predictive DNA testing. Materials and Methods. Over the past 21 months, 94 at-risk offspring and s~lings from 34 kindreds have been screened by either direct mutation detection or polymorphic linkage analysis of the APC gene region. All subjects were offered pre- and post-test counseling. Direct mutation analysis was performed on 27 cases (Group I). Linkage analysis was carded out on 67 cases (Group lJ). Results. In Group 1Am J Hum Genet 53:1031-1037 (1993). 2Am J. Hum Genet 47:563-567 (1993).

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I, 6 patients (age range 3-24 years) were found to carry a germline APC mutation. Twenty-one patients (age range 8-68 years) were negative. In Group lI, 22 patients (age range 5-42 years) were identified at high risk (>98%). Twenty-nine patients (age range 9--46 years) were found to be at low risk (

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

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