THE YALE JOURNAL OF BIOLOGY AND MEDICINE 64 (1991), 255-257
Counseling Issues in Genetic Screening* CATHERINE WALSH-VOCKLEY, M.S. Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut Received May 24, 1991
During today's presentations, we have heard about existing and new technologies that can expand the scope of newborn and genetic screening. My role as a genetic counselor in this sphere involves assisting individuals and families as they go through the process of confirmation of some screening results, follow-up care, and family adjustment. In addition, I counsel families who are making decisions about DNAbased carrier testing, a group facing concerns illustrative of many important issues in expanded population genetic screening. I would like to present some thoughts about the evolution of these roles as screening expands. These ideas will touch on family and societal issues, public policy concerns, education, and provision of genetic services. As we have heard, new molecular screening techniques can identify not only affected individuals, but also carriers of an increasing number of genetic conditions. These techniques must be applied in such a way as to provide information in a maximally beneficial fashion. For example, early diagnosis of cystic fibrosis would allow early therapeutic intervention, thus maximizing outcome for the patient. A carrier who might be identified by the same test gains no medical benefit from the knowledge of carrier status, however, and, in fact, may experience adverse psychological consequences if the information is learned at an age when it cannot be reasonably understood or assimilated. Such an individual may have decided against screening, an option not available if screening is performed in the newborn period [1]. Care must be taken not to disrupt this person's privilege of self-determination. As Attorney Andrews stated, genetic screening also has significant implications for extended family members. In the cystic fibrosis example, an individual's population carrier risk of /25 is increased to 1/2 if a sibling is found to be a carrier for the disease. A balance must be struck between an individual's knowledge of a significant increase in genetic risk and the screened sibling's right to confidentiality [2,3,4]. Another consideration, as Dr. McCabe explained this morning, would be the population of couples where one member is identified as a carrier of cystic fibrosis and the other has a negative carrier test. Since this negative test is not 100 percent accurate because all mutations cannot at present be detected, the psychological ramifications of this situation could be significant. Children awaiting placement for adoption represent an additional group of individuals potentially affected by expanded genetic screening [4,5]. Knowledge of carrier status or susceptibility to later-onset conditions of medical importance may 255 *Discussion presented at the symposium on "New Technologies for Genetic and Newborn Screening: A Medical, Legal, and Ethical Update," Yale University School of Medicine, April 23, 1990. Yale J Biol Med 64: 1-62, 1991 Copyright © 1991 by The Yale Journal of Biology and Medicine, Inc. All rights of reproduction in any form reserved.
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decrease a child's chance of being adopted. Moreover, identification of such a child as a carrier recalls the previous points regarding notification of biologic family members at increased genetic risk, with the added factor of the confidentiality surrounding the adoption process. Formal public policies regarding these concerns may soon become necessary. Additional public policy issues that will need to be considered include: the equitable availability of or access to genetic screening, implementation of screening based on appropriate cost/benefit analysis, readiness of a test for population screening as discussed for cystic fibrosis deletion analysis, mandatory versus optional screening, and the possible ramifications of screening pertaining to genetic discrimination and stigmatization [4,5]. The controversies surrounding human immunodeficiency virus screening illustrate the difficulty in successfully negotiating these questions. As Dr. McCabe mentioned earlier, today's discussions on the possibility of expanded genetic screening highlight the need for additional professionals with various levels of training to provide genetic services [6]. Confirmation testing and follow-up care for individuals identified by screening are extremely time-consuming. From the perspective of genetic counselors in clinical settings where these services are provided, this development is seen as an increase in the number of patients with significant psychosocial as well as medical needs, who require a substantial time investment. Furthermore, techniques which identify unaffected carriers of genetic disease define a large additional population now in need of services. For example, sickle-cell anemia screening revealed 2,000 individuals with sickle trait in the state of Michigan in 1988, and, in the same year, 20,000 such individuals were identified in states in the Southeastern Regional Genetics Group [7]. The 15 existing genetic counseling training programs cannot adequately provide qualified individuals for all the currently available positions nationwide, not to mention the increased load generated by new screening programs. An upcoming National Society of Genetic Counselors position paper from a conference on this topic recommends increasing both the number of training programs and the number of trainees per program [7]. To some counselors, however, this solution is a two-edged sword, because positions in which a genetic counselor utilizes all of his or her skills will become more limited. In the sickle-cell example, a counselor could be employed to provide trait counseling to all identified carriers, but the repetitive nature of the work would soon become tedious and uninteresting. These routine, but essential, functions of genetic counseling will need to be incorporated into multifaceted positions, which also include more challenging components. Moreover, the further development and use of supplemental teaching materials, for example, videotapes and informational booklets such as those provided today, can be coupled with more individual counselor attention when appropriate. A recent development designed to alleviate some of these difficulties involves the use of individuals who are trained to provide counseling around one disease state-so-called single-gene counselors [8]. While such individuals may be able to function in a limited fashion to aid in the provision of genetic services, some questions surrounding their use must first be addressed. These include establishment of training standards, means to assess competence, and adequate supervision by fully trained genetic professionals [7]. In addition, the role of single-gene counselors must be clearly defined for patients. Nurses and other health professionals have also been
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providing genetic counseling in areas where the supply of traditionally trained counselors is inadequate. Often, however, they do not have the genetics training to deliver all of the services routinely provided by master's-level genetic counselors. The role of the primary provider is also likely to expand as new genetic screening tests are implemented [9]. Discussion about whether to have testing done, referral for additional counseling and testing, and, in some instances, consideration of options once results are available may all become routine parts of primary care practice. A broader training at the medical school level, as well as more intensive efforts in continuing education surrounding these issues, may be necessary [5]. Finally, implicit in the availability of expanded genetic services is the need for increased education of the general public about their use. Genetic counselors should play an integral role in all of these educational efforts. In summary, implementation of new newborn and genetic screening tests will raise many questions and place new stresses on the delivery system for genetic services. The issues that I have presented will need careful consideration prior to the initiation of such new tests. REFERENCES 1. Mapping and Sequencing the Human Genome. Washington, DC, National Academic Press, 1988 2. Wertz DC, Fletcher JC: Ethics and genetics: An international survey. RYstings Center Report (July/August): 20-24, 1989 3. Annas GJ: Who's afraid of the human genome. Hastings Center Report (July/August): 19-21, 1989 4. Fletcher JC: Ethical and social aspects of risk predictions. Clin Genet 25:25-31, 1984 5. Holtzman NA: Proceed with Caution: Predicting Genetic Risks in the Recombinant DNA Era. Baltimore, Johns Hopkins University Press, 1989 6. Scott JA, Walker AP, Eunpu DL, Djurdjinovic L: Genetic counselor training: A review and considerations for the future. Am J Hum Genet 42(1):191-199, 1988 7. Walker AP, Scott JA, Biesecker BB, Conover B, Blake W, Djurdjinovic L: Report of the 1989 Asilomar meeting on education in genetic counseling. Am J Hum Genet 46:1223-1230, 1990 8. Bowles Biesecker B: Genetic counseling education into the '90's. Perspectives in Genetic Counseling 12(1):2, 1990 9. Grisola JS: Genes and dreams. Western J Med 151(5):564-566, 1989
Counseling Issues in Genetic Screening* CATHERINE WALSH-VOCKLEY, M.S. Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut Received May 24, 1991
During today's presentations, we have heard about existing and new technologies that can expand the scope of newborn and genetic screening. My role as a genetic counselor in this sphere involves assisting individuals and families as they go through the process of confirmation of some screening results, follow-up care, and family adjustment. In addition, I counsel families who are making decisions about DNAbased carrier testing, a group facing concerns illustrative of many important issues in expanded population genetic screening. I would like to present some thoughts about the evolution of these roles as screening expands. These ideas will touch on family and societal issues, public policy concerns, education, and provision of genetic services. As we have heard, new molecular screening techniques can identify not only affected individuals, but also carriers of an increasing number of genetic conditions. These techniques must be applied in such a way as to provide information in a maximally beneficial fashion. For example, early diagnosis of cystic fibrosis would allow early therapeutic intervention, thus maximizing outcome for the patient. A carrier who might be identified by the same test gains no medical benefit from the knowledge of carrier status, however, and, in fact, may experience adverse psychological consequences if the information is learned at an age when it cannot be reasonably understood or assimilated. Such an individual may have decided against screening, an option not available if screening is performed in the newborn period [1]. Care must be taken not to disrupt this person's privilege of self-determination. As Attorney Andrews stated, genetic screening also has significant implications for extended family members. In the cystic fibrosis example, an individual's population carrier risk of /25 is increased to 1/2 if a sibling is found to be a carrier for the disease. A balance must be struck between an individual's knowledge of a significant increase in genetic risk and the screened sibling's right to confidentiality [2,3,4]. Another consideration, as Dr. McCabe explained this morning, would be the population of couples where one member is identified as a carrier of cystic fibrosis and the other has a negative carrier test. Since this negative test is not 100 percent accurate because all mutations cannot at present be detected, the psychological ramifications of this situation could be significant. Children awaiting placement for adoption represent an additional group of individuals potentially affected by expanded genetic screening [4,5]. Knowledge of carrier status or susceptibility to later-onset conditions of medical importance may 255 *Discussion presented at the symposium on "New Technologies for Genetic and Newborn Screening: A Medical, Legal, and Ethical Update," Yale University School of Medicine, April 23, 1990. Yale J Biol Med 64: 1-62, 1991 Copyright © 1991 by The Yale Journal of Biology and Medicine, Inc. All rights of reproduction in any form reserved.
256
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decrease a child's chance of being adopted. Moreover, identification of such a child as a carrier recalls the previous points regarding notification of biologic family members at increased genetic risk, with the added factor of the confidentiality surrounding the adoption process. Formal public policies regarding these concerns may soon become necessary. Additional public policy issues that will need to be considered include: the equitable availability of or access to genetic screening, implementation of screening based on appropriate cost/benefit analysis, readiness of a test for population screening as discussed for cystic fibrosis deletion analysis, mandatory versus optional screening, and the possible ramifications of screening pertaining to genetic discrimination and stigmatization [4,5]. The controversies surrounding human immunodeficiency virus screening illustrate the difficulty in successfully negotiating these questions. As Dr. McCabe mentioned earlier, today's discussions on the possibility of expanded genetic screening highlight the need for additional professionals with various levels of training to provide genetic services [6]. Confirmation testing and follow-up care for individuals identified by screening are extremely time-consuming. From the perspective of genetic counselors in clinical settings where these services are provided, this development is seen as an increase in the number of patients with significant psychosocial as well as medical needs, who require a substantial time investment. Furthermore, techniques which identify unaffected carriers of genetic disease define a large additional population now in need of services. For example, sickle-cell anemia screening revealed 2,000 individuals with sickle trait in the state of Michigan in 1988, and, in the same year, 20,000 such individuals were identified in states in the Southeastern Regional Genetics Group [7]. The 15 existing genetic counseling training programs cannot adequately provide qualified individuals for all the currently available positions nationwide, not to mention the increased load generated by new screening programs. An upcoming National Society of Genetic Counselors position paper from a conference on this topic recommends increasing both the number of training programs and the number of trainees per program [7]. To some counselors, however, this solution is a two-edged sword, because positions in which a genetic counselor utilizes all of his or her skills will become more limited. In the sickle-cell example, a counselor could be employed to provide trait counseling to all identified carriers, but the repetitive nature of the work would soon become tedious and uninteresting. These routine, but essential, functions of genetic counseling will need to be incorporated into multifaceted positions, which also include more challenging components. Moreover, the further development and use of supplemental teaching materials, for example, videotapes and informational booklets such as those provided today, can be coupled with more individual counselor attention when appropriate. A recent development designed to alleviate some of these difficulties involves the use of individuals who are trained to provide counseling around one disease state-so-called single-gene counselors [8]. While such individuals may be able to function in a limited fashion to aid in the provision of genetic services, some questions surrounding their use must first be addressed. These include establishment of training standards, means to assess competence, and adequate supervision by fully trained genetic professionals [7]. In addition, the role of single-gene counselors must be clearly defined for patients. Nurses and other health professionals have also been
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providing genetic counseling in areas where the supply of traditionally trained counselors is inadequate. Often, however, they do not have the genetics training to deliver all of the services routinely provided by master's-level genetic counselors. The role of the primary provider is also likely to expand as new genetic screening tests are implemented [9]. Discussion about whether to have testing done, referral for additional counseling and testing, and, in some instances, consideration of options once results are available may all become routine parts of primary care practice. A broader training at the medical school level, as well as more intensive efforts in continuing education surrounding these issues, may be necessary [5]. Finally, implicit in the availability of expanded genetic services is the need for increased education of the general public about their use. Genetic counselors should play an integral role in all of these educational efforts. In summary, implementation of new newborn and genetic screening tests will raise many questions and place new stresses on the delivery system for genetic services. The issues that I have presented will need careful consideration prior to the initiation of such new tests. REFERENCES 1. Mapping and Sequencing the Human Genome. Washington, DC, National Academic Press, 1988 2. Wertz DC, Fletcher JC: Ethics and genetics: An international survey. RYstings Center Report (July/August): 20-24, 1989 3. Annas GJ: Who's afraid of the human genome. Hastings Center Report (July/August): 19-21, 1989 4. Fletcher JC: Ethical and social aspects of risk predictions. Clin Genet 25:25-31, 1984 5. Holtzman NA: Proceed with Caution: Predicting Genetic Risks in the Recombinant DNA Era. Baltimore, Johns Hopkins University Press, 1989 6. Scott JA, Walker AP, Eunpu DL, Djurdjinovic L: Genetic counselor training: A review and considerations for the future. Am J Hum Genet 42(1):191-199, 1988 7. Walker AP, Scott JA, Biesecker BB, Conover B, Blake W, Djurdjinovic L: Report of the 1989 Asilomar meeting on education in genetic counseling. Am J Hum Genet 46:1223-1230, 1990 8. Bowles Biesecker B: Genetic counseling education into the '90's. Perspectives in Genetic Counseling 12(1):2, 1990 9. Grisola JS: Genes and dreams. Western J Med 151(5):564-566, 1989
