9
Research and Policy Agenda

Existing gaps in data, research, and policy analysis impede informed policy making for the future. The committee found surprisingly few data on the extent of genetic testing and screening today, for example, and no system in place to gather data or to assess practices in relation to the committee's principles and recommendations for the future. Moreover, the lack of continuing policy oversight—at the national, state, and professional levels—impedes the development and implementation of coherent, effective standards for the anticipated explosion in genetic testing, screening, and counseling.

This chapter presents the committee's recommendations for addressing the key policy, research, and data needs in genetic testing and screening. Some of these recommendations are addressed to the Ethical, Legal, and Social Implications Program of the Human Genome Project of the National Institutes of Health (NIH) and the Department of Energy (DOE); other recommendations are addressed to relevant agencies, including other components of the National Institutes of Health, the Agency for Health Care Policy and Research, other agencies of the Public Health Service, the Health Care Financing Administration, the Department of Health and Human Services (DHHS), the National Science Foundation (NSF), and a broad range of private organizations.

POLICY OVERSIGHT FOR GENETIC TESTING AND SCREENING

National Policy Oversight

The need for continuing policy oversight for genetic testing has occupied the attention of the Committee on Assessing Genetic Risks from its inception. With



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Assessing Genetic Risks: Implications for Health and Social Policy 9 Research and Policy Agenda Existing gaps in data, research, and policy analysis impede informed policy making for the future. The committee found surprisingly few data on the extent of genetic testing and screening today, for example, and no system in place to gather data or to assess practices in relation to the committee's principles and recommendations for the future. Moreover, the lack of continuing policy oversight—at the national, state, and professional levels—impedes the development and implementation of coherent, effective standards for the anticipated explosion in genetic testing, screening, and counseling. This chapter presents the committee's recommendations for addressing the key policy, research, and data needs in genetic testing and screening. Some of these recommendations are addressed to the Ethical, Legal, and Social Implications Program of the Human Genome Project of the National Institutes of Health (NIH) and the Department of Energy (DOE); other recommendations are addressed to relevant agencies, including other components of the National Institutes of Health, the Agency for Health Care Policy and Research, other agencies of the Public Health Service, the Health Care Financing Administration, the Department of Health and Human Services (DHHS), the National Science Foundation (NSF), and a broad range of private organizations. POLICY OVERSIGHT FOR GENETIC TESTING AND SCREENING National Policy Oversight The need for continuing policy oversight for genetic testing has occupied the attention of the Committee on Assessing Genetic Risks from its inception. With

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Assessing Genetic Risks: Implications for Health and Social Policy the prospect of widespread genetic testing, the committee believes that effective oversight is essential to ensure that tests are validated before becoming standard medical practice and that such tests are used appropriately, with respect for the potential harms such testing may pose. The committee believes that a national oversight body is needed to serve this function (see below). Such a body would help to bring order, over the coming years, to the continuing oversight of genetic testing and the evaluation of the readiness of new genetic tests for widespread use in medical practice, and to monitor professional practices. Such a body would collect and evaluate data on genetic testing, and advise state and federal agencies and other interested organizations with regulatory authority on establishing and enforcing standards for genetic tests. Among the organizations to whom this body could provide advice are the Human Genome Project (HGP), Health Care Financing Administration (HCFA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDC), Agency for Health Care Policy and Research (AHCPR), and the Congress, as well as legislatures, health agencies, and genetics advisory commissions at the state level. Among genetics professionals, the American Society for Human Genetics (ASHG) has served some of the functions that the committee has in mind for the proposed National Advisory Committee on Genetic Testing and a Working Group on Genetic Testing (see below). ASHG has issued policy statements on maternal serum alpha-fetoprotein (MSAFP) screening; on cystic fibrosis (CF) testing and screening; on DNA banking, DNA data banking, and related confidentiality issues; and on freedom of choice related to prenatal diagnosis and to the selective abortion of fetuses diagnosed with, or at significant risk of, serious genetic disorders and birth defects. The National Society of Genetic Counselors (NSGC) has also developed a Code of Ethics and Guiding Principles that includes policy statements on access to care, nondiscrimination, and freedom of choice, as well as confidentiality of test results and informed consent. The Council of Regional Networks for Genetic Services (CORN) has developed policies and practices for laboratory quality assurance standards, proficiency testing programs, and essential data collection for newborn screening, cytogenetics, biochemical genetics, alpha-fetoprotein, and hemoglobinopathy screening; more recently, CORN has helped develop quality standards and proficiency testing for molecular genetics in conjunction with ASHG and the College of American Pathologists (CAP). Many other professional groups also have an interest in genetic testing. The American Academy of Pediatrics (AAP) has issued a series of policy statements and fact sheets on newborn screening, including statements on screening for phenylketonuria and hypothyroidism, the subsequent use of newborn screening spots for DNA diagnosis, and the limits of consent in children and genetic testing in children. The American College of Obstetricians and Gynecologists (ACOG) has issued policy statements on MSAFP screening, prenatal diagnosis for advanced maternal age, and standards for the training of medical students and residents in

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Assessing Genetic Risks: Implications for Health and Social Policy obstetrics and gynecology related to genetics. Many disease-specific specialty organizations also have a strong interest in the rapidly developing field of genetic testing related to their disciplines and disorders (e.g., oncology, cardiology, diabetology). The development of an international code of ethics for geneticists has also been proposed (Wertz, 1992). Genetic testing has moved beyond the domain of genetics specialists alone however. Beyond the role of professional bodies, therefore, the committee recommends broad public involvement in the development of public policy and professional practice concerning genetic testing and screening. As discussed throughout this report, genetic testing has broad health and social implications of both immediate and future concern to individuals and families with genetic disorders, genetic support groups, and the public at large. The Alliance of Genetic Support Groups has played an important role in coordinating and informing such support groups and, increasingly, in representing their interests in policy discussions. Most recently, the Alliance, in conjunction with ASHG, held a workshop and developed important guidelines for informed consent in research involving genetic testing (see Chapter 4). Beyond the role of genetic support groups, there is a need for increased public awareness, understanding, and participation in the development of policy for genetic testing. Increased public education will be required to equip the public to make informed personal and policy decisions in genetic testing (see Chapter 5). National Advisory Committee and Working Group The committee deliberated at length about the best way to proceed in this complex professional and public policy climate and considered a variety of mechanisms for accomplishing the goals of technical and policy oversight. Some members felt that the existing Joint Working Group on the Ethical, Legal, and Social Implications (ELSI) of the Human Genome Project could serve as the needed oversight body if it had a more formalized mandate, along with expanded staff and funding. (The ELSI program has already supported consensus conferences to help to develop policy statements on issues such as CF screening, p53 screening for cancers, the implications of presymptomatic identification of late-onset genetic disorders in relation to implementation of the Americans with Disabilities Act, and research guidelines for large family studies in genetics.) In contrast, some members felt that overall policy oversight for genetic testing would be best provided in the context of a broader body overseeing biomedical ethics generally. The majority of the committee recommends a broadly based, continuing, independent National Advisory Committee on Genetic Testing to provide policy advice and oversight for genetic testing, in conjunction with a Working Group on Genetic Testing to provide a forum for gathering and disseminating data—both scientific and social—to help develop common principles

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Assessing Genetic Risks: Implications for Health and Social Policy and standards for evaluating when genetic tests are ready for widespread use in medical practice and overseeing the use of such testing. The National Advisory Committee and its Working Group should be appointed by the Secretary of Health and Human Services to give advice to DHHS and to the Congress, including the Joint NIH-DOE Human Genome Project. Its policy recommendations must be directed wherever appropriate, however, including other NIH components, CDC, FDA, AHCPR, HCFA, DHHS, the Congress, and other public and professional bodies. This National Advisory Committee should consist of scientists and physicians with expertise in genetic tests, as well as consumers aware of the problems of genetic testing, including members of the genetics community (particularly the American College of Medical Genetics (ACMG), ASHG, CORN, CAP, and the Alliance of Genetic Support Groups), other professional societies (e.g., ACOG and AAP), as well as other interested parties from law, business, and ethics. The majority of the committee urges DHHS to fund the proposed National Advisory Committee on Genetic Testing with its Working Group on Genetic Testing and to fund an adequate staff. The Advisory Committee should be appointed by the Secretary of Health and Human Services and funded independently in order to ensure oversight of the full range of federal agencies involved in genetic testing and to professional societies making ''standard of care" decisions. The Working Group should be capable of (1) collecting data on the validity and safety of tests already in use; (2) evaluating new tests by helping to design and evaluate pilot programs; and (3) measuring the performance of specific tests against the principles and criteria described in this report, and others that may be needed. The Advisory Committee would set priorities for which tests or types of tests should be evaluated and what additional data should be acquired by the Working Group. Based on the findings of the Working Group, the National Advisory Committee could make recommendations on altering current genetic testing practices, on when new tests are ready for widespread use, and on modifying or adding to this committee's principles and criteria for testing. The Advisory Committee should make reports as needed, but at least every two years, to the Secretary of Health and Human Services and the Congress. This policy mechanism should allow more comprehensive consensus and policy development, as well as the monitoring and oversight of professional practices related to genetic testing. There have been discussions of and recommendations for a national commission on genetics to develop essential policy and provide oversight for this rapidly developing field, with its many scientific, ethical, legal, and social implications. The House Committee on Government Operations, Subcommittee on Information, Justice, and Agriculture (1992) issued a report recommending a national commission on genetic privacy at the level of the Secretary of Health and Human Services and the Secretary of Energy (Gellman, 1992; see Chapter 8). Issues in genetic privacy that are especially complex may warrant independent national review, depending in part on the outcome of the current round of health insurance reform at the national level. This will require careful monitoring over the next

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Assessing Genetic Risks: Implications for Health and Social Policy few years. If the committee's recommended National Advisory Committee on Genetic Testing and a Working Group on Genetic Testing are not created and funded—or are not successful—it will be necessary to reconsider the need for creation of a statutory national commission on genetics with a full legislative mandate negotiated through the Congress. State Oversight: Role of State Commissions The committee also sees a particular need for broadly representative advisory bodies at the state level. These advisory bodies should guide state health departments and legislatures on such issues as deciding when tests should be added to state-run screening programs and should ensure that the offering, testing, and associated education and counseling are always conducted in accord with principles outlined in this report. State statutes affecting genetic testing should not be unduly prescriptive or restrictive, and should provide latitude to such advisory bodies to modify state-run genetic testing programs. The committee believes that a federally supported national advisory body with a Working Group on Genetic Testing would be of great help to states in assessing genetic tests, in deciding which tests to adopt, and in tailoring national policy to meet state needs. Some states may not have the necessary expertise or resources to develop their own advisory structure, and may wish to collaborate with neighboring states, or to obtain their advice from the recommended national advisory group. Research Policy for Studies Involving Genetic Testing Much of current genetic testing grew out of and is still conducted within the context of research studies. Research initiatives involving genetic testing are being supported and developed not only within the Human Genome Project, but also within the research programs of various NIH components (including the National Institute of General Medical Sciences; National Institute of Child Health and Human Development; National Cancer Institute; National Heart, Lung, and Blood Institute; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Neurological Disorders and Stroke, etc.). In developing and approving research protocols, the committee recommends that the NIH implement the recommendations of this committee within the context of research studies. In particular, the committee recommends that all projects involving genetic testing consider the relevant psychosocial implications of genetic testing, and the potential for harm from the use and misuse of resulting genetic information. This is especially significant where there is no treatment available for the disorders, as will often be the case for many disorders in the near future. In developing requests for proposals or requests for applications, and in reviewing research, demonstration projects, pilot studies, clinical trials, and family studies in genetics, NIH and other funding agencies should also

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Assessing Genetic Risks: Implications for Health and Social Policy assess the availability of appropriate genetic counseling and follow-up services in evaluating study designs. NEED FOR ADDITIONAL STANDARDS FOR GENETIC TESTING The committee identified several areas in which additional standards are needed to indicate who should be tested, for what disorders, and at what age. These include prenatal diagnosis, predispositional testing, the age and circumstances for testing of minors, and multiplex genetic testing. Prenatal Diagnosis One area requiring additional standards is prenatal diagnosis, a form of genetic testing that is already widespread. Before informed policy can be developed for some of these issues, key research questions need to be addressed. These include the special impact of prenatal diagnosis on women, the issues posed by carrier detection during pregnancy rather than prior to conception, the complexities of MSAFP screening, the issues posed by seeking "perfection," including the use of prenatal diagnosis and selective abortion to choose the sex of the fetus. The committee recommends additional research on the impact of prenatal diagnosis, particularly its immediate and long-term effects on women. Such research should include the psychosocial implications—both at the time of pregnancy and later in the woman's life—of decision making about selective abortion of a fetus diagnosed with a genetic disorder. The committee believes that such research will provide important information for the design, conduct, and evaluation of genetic counseling for prenatal diagnosis in the future. The nature of MSAFP screening involves a high rate of initial identification of increased risk for a wide variety of conditions in the fetuses where the fetus later turns out not to be affected. This can cause substantial anxiety during the waiting period for follow-up confirmatory test results. These factors highlight the need for intensive follow-up of prenatal genetic testing, both to confirm the predictive value of tests and to ensure counseling for women with abnormal MSAFP screening results. The committee recognizes that carrier screening sometimes takes place during pregnancy, but it recommends the development of carrier screening before pregnancy. There is a need for innovative and practical methods for carrier screening of adults before pregnancy, as well as the evaluation of such programs through pilot studies. Better public and provider education may increase preconception carrier testing. With parents having fewer children, and often having them later in life, there may be increasing emphasis on having children who are not only healthy, but have certain desired characteristics. This possibility raises the issues of "designer children," "designer genes," and "genetic perfectibility." The committee recommends that prenatal diagnosis only be used to assess genetic disorders and

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Assessing Genetic Risks: Implications for Health and Social Policy birth defects; it is concerned about the offering of prenatal diagnosis for trivial reasons. The committee is particularly concerned about the use of prenatal diagnosis for sex selection. It is concerned that—with increasing entrepreneurial pressures in prenatal diagnosis—the use of prenatal diagnosis for selection of fetal sex may become more widespread in the future. The committee believes this issue warrants careful scrutiny over the next three to five years as the availability of genetic testing becomes more widespread, and especially as simpler, safer technologies for prenatal diagnosis are developed (see Chapter 2). ACOG, ASHG, CORN, and NSGC have issued a variety of policy statements about aspects of prenatal diagnosis. However, the committee believes that issues in genetic testing have moved beyond the domain of professional groups alone. While existing standards may have been adequate for the past, new standards will be needed in the future, particularly to respond to rapid developments in genetic testing methods that are now experimental, such as the use of fetal cells isolated from maternal blood, triple-marker screening, and preimplantation diagnosis. Reproductive genetic decisions raise some of the most deeply personal and troubling issues in genetic testing. The committee recommends that professional groups work together, and develop innovative methods for involving the public, in the development of standards for the use of these technologies. Predispositional Genetic Testing and Screening There is at the present time an important "window of opportunity" now to consider all the ramifications of predispositional genetic testing before such testing becomes widespread. For common disorders, the committee believes that tests for predisposition will vary in predictive value both among tests and among disorders; and that the disorders will vary in treatability, thereby affecting the utility of the information to be gained even from highly predictive tests. Genetic testing for very common, high-profile disorders such as heart disease, diabetes mellitus, and cancers will be subject to entrepreneurial pressure to expand testing once such tests are available; this, in turn, may have substantial potential for harm to individuals and families, at least in terms of insurability and employability. The committee recommends the development of standards for genetic tests designed to detect predispositions to disorders of late onset. Strict guidelines for efficacy will be necessary to prevent the premature introduction of this technology. The development of such standards would be an appropriate early task for the National Advisory Committee on Genetic Testing with a Working Group on Genetic Testing. The committee believes that population screening for late-onset monogenic diseases should be considered only for treatable or preventable conditions of relatively high frequency. Under such guidelines, population screening should be offered only after appropriate, reliable, sensitive, and specific tests become available. Such tests do not yet exist. Once appropriate tests become avail-

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Assessing Genetic Risks: Implications for Health and Social Policy able, pilot studies will be required to demonstrate that the proposed interventions are safe and effective before their wide-scale introduction can be recommended. These tests may have long-term impacts, and extensive pretest counseling is critical to ensure voluntary participation and informed consent. The committee recommends research on education and counseling both before and after predispositional genetic testing to ensure that an individual is fully aware of the potential use and usefulness of test results, as well as possible harms of having the information. Research on issues related to predispositional genetic testing should include the key policy issues identified in Chapters 4, 6, and 8. For example, the potential abuse of such information in employment or insurance practice must be fully understood by the individual undergoing predispositional genetic screening or testing, and the provider should ensure that confidentiality is respected. Providers who conduct predispositional genetic testing should also be well schooled in the principles of genetics and genetic counseling, including the ethical, legal, and social issues involved in genetic testing. In the future, for example, genetic testing for psychiatric diseases will require all psychiatrists to have more training in genetics and genetic counseling, again including the ethical, legal, and social implications of such testing (see Chapters 4 and 6). Testing of Minors The committee believes that special concerns are posed by the prospect of increased genetic testing of minors. The committee believes that its principles for newborn screening are appropriate policy guidance for genetic testing in minors, particularly the principle of benefit to the minor and avoiding the possibility that genetic information will be generated about a child when there is no likely benefit to the child in the immediate future (see Chapters 1, 2, 4, and 8). In general, the committee does not recommend predispositional genetic testing for minors unless delays would result in significant harm to the child. Research should be undertaken to define factors relating to the appropriate age for testing and screening for genetic disorders in order to maximize the benefits of therapeutic intervention and minimize the potential for harms. The committee was concerned about the use of genetic information in adoption in ways that might represent harmful and unwarranted intrusions on individual privacy, for example, to determine "suitability" as parents or as a potential adopted child. Alternatively, some genetic information might be helpful to parents in the care of an adopted child. Further study is needed to determine the appropriate use of genetic—and other medical—information in adoption cases. Multiplex Testing Multiplex testing represents one of the key innovations likely to be introduced in genetic testing; it involves performing multiple genetic tests on a single

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Assessing Genetic Risks: Implications for Health and Social Policy blood or other tissue sample. This will be a very important issue for the future of genetic testing and genetic counseling (see Chapters 1, 2, 4, and 8). The committee recommends the development both of standards for multiplex genetic testing and of innovative methods for applying multiplex testing. The latter could involve the grouping of tests by related types of disorders that raise similar issues in terms of their significance, including severity, variability, the availability of effective treatment, how soon treatment needs to be instituted, and other specifics of each disorder), to allow time for appropriate education, informed consent, and genetic counseling. The committee opposes the multiplexing of all available genetic tests merely because it is technologically possible to do so (see Chapter 2). Research will be required to develop and evaluate innovative methods for the grouping of genetic tests in a way that will make it possible for multiplex testing to embody the committee's fundamental principles of informed consent, as well as its principles for genetic education and counseling (see Chapters 4 and 8). RESEARCH NEEDS Assessment of ELSI Research and Policy Studies One key contribution to our state of knowledge concerning research and policy issues in genetic testing would be a state-of-the-art analysis of what has been learned to date from projects supported under the joint Ethical, Legal, and Social Implications Program of NIH and DOE. Three years of developmental work has gone into this innovative effort to assess a major new area of technology before its full impact has been felt; this is an appropriate time to assess what has been learned. The committee endorses the concept that the ELSI program support "meta-analyses" of what has been learned in the key areas of its program investment. Such meta-analyses can help inform policy debate and development, as well as aid those working in the field—and those developing projects and concepts—to make use of this important investment in our understanding of all the implications of genetic testing posed by the Human Genome Project. Pilot Studies It is critical to conduct adequate pilot studies and related investigations before genetic tests move from research to widespread or routine clinical use (see Chapters 1 and 3). The 1975 committee of the National Academy of Sciences (NAS, 1975) also identified the importance of pilot studies to precede genetic testing and screening. Since that time, not all genetic testing and screening programs have been subject to the discipline of pilot testing and evaluation, and some have undergone pilot studies but not undergone outside evaluation.

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Assessing Genetic Risks: Implications for Health and Social Policy The committee recommends that pilot studies be conducted on all genetic testing and screening programs—with outside, peer-reviewed evaluation—before they become widespread in newborn screening or any other types of genetic testing or screening. Effective pilot studies should be implemented as early as possible in genetic testing and screening situations for which there is no prior experience, for example, testing for predisposition to late-onset disorders. Once multiplex testing becomes possible, appropriate pilot studies must be carried out before this kind of simultaneous testing for multiple disorders is implemented (see Chapters 1, 3, and 4). Third-party payers should look to such pilot studies in considering reimbursement for genetic testing. Pilot testing is a legitimate and appropriate area for federal assistance. Laboratory Quality Assurance Centralization raises potential issues that, in the past, have been considered restraint of trade for commercial testing laboratories. Nevertheless, centralization of laboratory testing offers opportunities for improving the all-important quality of genetic test results and reaching the goal of close to "zero-error" tolerance in laboratory genetic testing. The committee has stopped short of recommending the kind of centralization of genetic testing laboratories adopted, for example, by California for its newborn, Tay-Sachs, and MSAFP screening programs. Instead, the committee has recommended other means of ensuring quality and proficiency in genetic testing (see Chapter 3). Research is needed to develop and evaluate these methods of laboratory quality assurance for genetic testing, including quality control and proficiency testing. However, centralized laboratory testing is recommended now to ensure the quality of genetic tests for rare disorders (see Chapter 3). Genetics Knowledge and Attitudes of Health Professionals Since genetic testing is increasingly likely to be delivered in primary care settings in the future, the adequacy of genetics education and counseling in such settings will have to be evaluated. Research on knowledge and practices related to genetics and genetic testing among the professionals who are to provide this education and counseling, is essential to the development of proper reforms in education, training, and professional standards related to genetic testing (see Chapters 4 and 6). The committee recommends that genetics education and counseling tasks be analyzed to determine what level of complexity can appropriately be delivered by primary care providers and what degree of complexity requires the training and experience of specialized genetics personnel. The committee believes that the more complex and significant the implications and decisions to be made are—including reproductive decisions and testing for untreatable late-

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Assessing Genetic Risks: Implications for Health and Social Policy onset disorders—the more training will be needed for the people who are providing genetics education and counseling. Research is also needed on the knowledge, attitudes, and behavior of health professionals concerning untreatable disorders or reproductive decisions, particularly related to nondirectiveness. Genetics Education and Counseling Research is required on the essential components of genetic counseling services, including education and counseling before and after testing, and on the need for follow-up support services. A number of pressing research issues need to be addressed in genetic education and counseling: Can counseling be streamlined and still be appropriate? Can supplemental support techniques (e.g., introductory videos, computer models, interactive video, workbooks, audiotapes of counseling sessions) provide important education and increase the cost-effectiveness of genetic counseling, whoever provides such services in the future? What is needed for appropriate informed consent? What impact do psychosocial factors related to genetic testing have on the effects and effectiveness of genetic counseling and education? What can be done to increase the cultural appropriateness of genetic counseling and education? What more can be done to inform people effectively about various genetic disorders, including the development of balanced materials? Informed Consent For example, most people have less interest in information about the name of the disorder and its mechanisms of action, than in information about the certainty with which the test predicts a disorder, what effects the disorder has on physical and mental functioning, whether treatment exists, and how intrusive any existing treatment protocol would be. The committee recommends that research be undertaken to determine what people feel they need to know in order to decide whether or not to undergo a genetic test. Research is also needed on what constitutes informed consent. This includes the level of information needed for various types of disorders (e.g., accepted testing for treatable disorders such as PKU, versus untreatable disorders of late onset such as Huntington disease), as well as how it may be affected by a variety of variables such as ethnic, racial, cultural, and socioeconomic differences. Research is needed to determine the advantages and disadvantages of various means of conveying that information (e.g., through specialized genetic counselors, primary care providers, single-disorder counselors, brochures, videos, audiotapes, computer programs). Psychosocial Factors in Genetic Testing Research is needed on the barriers to and the psychosocial impacts of

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Assessing Genetic Risks: Implications for Health and Social Policy genetics services, for example, (1) social stigma; (2) insurance and employment discrimination; and (3) the organization, delivery, availability, and financing of genetic testing services. This research should address factors such as geographic distribution, cost, and differences in cultural perceptions and values (see Chapters 2, 4, 6, and 8). It might also include research on the meanings and implications of commonly used health terminology, and the changes in application of that terminology to the field of genetics. Important among these issues of the language of genetics are the use of terms such as "defect" versus "condition"; more attention to the functional status of persons with genetic disorders; and assessment of how people consider the "eradication" of genetic disorders versus the eradication of communicable diseases (see Chapter 4, Box 4-1). Culturally Appropriate Genetic Testing and Counseling The committee recommends research to determine how best to provide genetic counseling in ways that are sensitive and appropriate to a variety of cultures and languages. Such research should be planned, conducted, and evaluated with the participation of persons from the cultures being studied. It should attempt to elucidate the effects of cultural differences on the delivery and receipt of genetic counseling with special attention to differing cultural perspectives on the role of persons in authority when the person is offering genetic counseling. Research should also include the analysis of key issues in genetics of particular importance to various cultures. Once understood, these analyses should be widely disseminated and used in training, not only throughout the professional genetics community, but also among health care professionals in general. Materials developed for culturally sensitive genetics education and counseling, both print and video, should be evaluated and model materials distributed widely. Development of Balanced Materials on Genetic Disorders The committee recommends the development and evaluation of balanced descriptions of genetic disorders, in culturally appropriate language, that are respectful of persons with the disorder(s) and avoid the use of pejorative terms or language. Appropriate genetics professional groups should undertake the development and evaluation of such descriptions with the participation of individuals and families affected by the disorder, as well as specialized genetics personnel. These descriptions should carefully balance available information about the sensitivity and specificity of the test, as well as about the severity, variability, and treatability, and what is not known about various disorders. The proposed National Advisory Committee and Working Group would be one mechanism for producing such documents. These materials should be evaluated to determine their effectiveness and possible sources of bias in com-

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Assessing Genetic Risks: Implications for Health and Social Policy municating information both about a particular disorder and about the potential risks and harms of tests for the disorder. Materials should be developed on particular disorders, perhaps starting with more common ones. Good examples for such balanced materials would include neural tube defects and Down syndrome, for which screening is already widespread. Cystic fibrosis might also be a good subject for this approach because (1) it exemplifies problems of variable expressivity; (2) the tests are complex in terms of sensitivity and specificity; and (3) treatments are estimated to be improving the overall prospects for many persons born with cystic fibrosis. Measuring the Effectiveness of Genetic Education and Counseling The committee believes that measuring a client's understanding and recall of numerical risks is too limited an indication of the success of or need for counseling. Beyond mere comprehension of numerical risk, genetic counseling must assist individuals in determining their own acceptable risk. Since risk perceptions vary among individuals and among counselees and counselors, there is no one right way to present or interpret risk information; information must be balanced, and the process must be tailored to each client. The committee recommends that research on the best ways to provide essential genetics education and counseling—by a variety of providers in a variety of settings—precede efforts to streamline genetic counseling . Specifically, a variety of approaches to counseling and informing of results should be evaluated to determine (1) what the client has learned; (2) how counseling has affected her or him; and (3) his or her satisfaction with the way counseling was provided and information reported (see Chapter 4). Public Education New policy and research initiatives should be launched to enhance public knowledge and impart the skills needed to make informed personal and public policy decisions related to genetic testing (see Chapter 5). The Human Genome Project's ELSI program should coordinate a public education initiative in genetics and expand its support for such efforts. To accomplish essential changes in policy, it will be necessary to bring together leaders from education and other professions, other federal agencies, support groups, foundations, and consumers to explore common interests and to formulate appropriate goals and strategies in public education related to genetic testing. CORN has already held one meeting of this kind related to a project to develop an on-line data base on genetic testing for consumers (Proud, 1992). This activity could serve as the basis for further coordination and collaboration on public information on genetic testing. Components of this public education effort include the following:

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Assessing Genetic Risks: Implications for Health and Social Policy Incorporating the principles, concepts, and skills training that support informed decision making about genetic testing into all levels of schooling-kindergarten through college. These should include concepts of respect for genetic diversity (differences) and kinship, as well as consideration of sensitive issues of reproduction in terms appropriate to the age and stage of development of students. Ensuring that appropriate educational messages about genetic tests and their implications reach the public, to enhance informed public decision making about either seeking or accepting genetic tests. Establishing systems for designing, implementing, and maintaining community-based interventions for genetics education among population groups at higher risk of particular genetic disorders (e.g., increased risk related to race or ethnicity). Encouraging broad public participation in the development of educational approaches that respect the widely varying personal and cultural perspectives on issues of genetics and are tolerant of individuals with genetic disorders of all kinds. Particular effort will be needed to include the perspectives of women, minorities, and persons with disabilities, who may feel especially affected by developing genetics technologies. Enlisting the mass media to help decrease public confusion and increase the knowledge and skills that will equip consumers to make appropriate decisions for themselves. Developing a consumer's guide to genetic testing and other consumer materials that provide reliable, self-explanatory, easily understood, and readily available information about genetic services and the many possible implications of the tests. Developing model genetics education initiatives to incorporate both the science and the social issues associated with genetic testing. NSF and other organizations should (1) expand programs that support model educational initiatives in science for precollege and college programs in molecular biology; (2) collaborate with the ELSI program of the Human Genome Project to encourage such programs to focus the attention of students on the health, social, legal, and ethical issues raised by genetic testing and screening; and (3) require evaluation of educational interventions. Computer Innovation in Genetics Education Innovative and interactive computer-assisted systems should be developed to provide clients and professionals with the latest information on genetic disorders and on genetic diagnosis, testing, and screening, as one way to improve the quality of genetic testing, education, and counseling services in the future (see Chapters 5 and 6). If designed and used appropriately, computer technologies could assist genetics specialists and primary care practitioners by

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Assessing Genetic Risks: Implications for Health and Social Policy presenting patients with basic, self-paced genetics education and even by presenting possible decision options for consideration of patients. The on-line AIDS bibliography could serve as one example of the use of computerized techniques to enhance public education for joint action by the ELSI program and the National Library of Medicine (NLM). NLM's program with the American College of Physicians (ACP), which provides access to NLM resources to ACP members, is another possible model. The system should include access to the recommendations and assessments of the proposed National Advisory Committee on Genetic Testing and its Working Group on Genetic Testing. The ELSI program should coordinate with professional genetics organizations and NLM to develop such a genetics education and dissemination program for interested health professionals (see Chapter 6). However, more research is needed to determine which tasks in genetics education and counseling can be appropriately accomplished using such techniques and to evaluate these techniques in various settings and populations. Cost-Effectiveness Analysis of Genetic Testing The original Institute of Medicine (IOM) request for funding for this study included, among the issues the committee might address, the cost-effectiveness and cost-benefit of genetic testing and screening. This is a murky and often arcane area where, unfortunately, more attention is usually paid to the cost side of the equation than to benefits or effectiveness—at least in these economically difficult times. It is difficult enough to apply these analytical constructs to technological innovations in medical practice, such as the model of quality of life factors in assessing medical interventions such as the artificial heart (Hogness and VanAntwerp, 1991). Genetic testing and screening, with its attendant social, legal, and ethical issues, increases the complexity of the analysis still further. The President's Commission (1983, p. 84) summed up these issues succinctly: Cost-benefit analysis is most useful when the costs and benefits of the action under consideration are tangible, can be measured by a common unit of measurement, and can be known with certainty. These conditions are rarely satisfied in public policy situations and they can be particularly elusive in genetic screening and counseling programs. For example, cost-benefit calculations can accurately evaluate the worth of a projected prenatal screening program if the only costs measured are the financial outlays (that is, administering a screening and counseling program and performing abortions when defects are detected) and the benefits measured are the dollars that would have been spent on the care of affected children. But the calculations become both much more complex and much less accurate if an attempt is made to quantify the psychological ''costs" and "benefits" to screenees, their families, and society. A more fundamental limitation on cost-benefit analysis is that in its simplest form it assumes that the governing moral value is to maximize the

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Assessing Genetic Risks: Implications for Health and Social Policy general welfare (utilitarianism). Simply aggregating gains and losses across all the individuals affected omits considerations of equity or fairness. Indeed, cost-benefit methodology itself does not distinguish as to whose costs and benefits are to be considered. It is possible, however, to incorporate considerations of equity or fairness and thereby depart from a strictly utilitarian form of cost-benefit analysis either by weighing some costs or benefits or by restricting the class of individuals who will be included in the calculation. In any case, cost-benefit analysis must be regarded as a technical instrument to be used within an ethical framework (whether utilitarian or otherwise), rather than as a method of avoiding difficult ethical judgments. Many issues are involved in applying the difficult measures of cost, burden, benefit, and effectiveness to genetic testing and screening, where risks and costs are distributed disproportionally to benefits among individuals, and even across generations. Increasing the effectiveness of the tests (i.e., specificity, sensitivity, reliability, and validity) is a necessary but not sufficient answer to critical questions about the value of genetic testing and screening. The availability or absence of treatment for genetic conditions must also weigh heavily in any assessment of the benefits and costs of genetic testing and screening for individuals, their families, and society. Additional research is needed in improved analytic thinking and techniques to provide a better foundation for cost-effectiveness analysis for genetic testing and screening. The work of the National Advisory Committee on Genetic Testing and its Working Group on Genetic Testing should provide essential information on the readiness of genetic tests for wide-scale use. However, genetic testing is not an end in itself. The committee, therefore, recommends that this research address such broader policy questions as: Where do genetic services and genetic assessment fit into the broad picture of health care priorities? What is the appropriate relative priority for genetic services compared to alternative investments in prenatal care, childhood immunization, or prevention of child abuse, all of which have better-documented cost-effectiveness than genetic testing and screening now has (e.g., GAO, 1992). CRITICAL DEFICIENCIES IN DATA ON GENETICS SERVICES The committee found that basic data on the number and kinds of genetic testing procedures are not available on most genetic testing and counseling services. With support from the Genetic Services Branch of the Maternal and Child Health Bureau, DHHS, CORN has worked to develop data on genetic services. In the only area of genetic services for which basic data exist—newborn screening—the data report and policy recommendations were developed through the efforts of CORN (1992). One reason for the paucity of data about genetic testing is the wide variety of

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Assessing Genetic Risks: Implications for Health and Social Policy settings in which such services are delivered, including many research laboratories and physician offices. New data show that slightly more than 2 million MSAFP screening tests were performed in 1991 based on a survey of laboratories performing MSAFP analysis (J. Haddow, Foundation for Blood Research, personal communication, January 1993). CORN has made an effort to collect more comprehensive data on prenatal diagnosis (Meaney, 1992), but it has limited reporting sources and no access to data on obstetrical office procedures. Without basic data on prenatal genetic services, there is no way to monitor current or future professional practices in relation to professional society guidelines or the recommendations of this committee. The committee recommends the systematic development of basic data on the full range of genetic testing and screening services that is needed to provide a sound basis for policy development for the future. A minimum data set on genetic services should be developed by a joint working group on genetic testing and services. This group should consist, at a minimum, of the National Center for Health Statistics, the Genetic Services Branch, the Human Genome Project, the Centers for Disease Control and Prevention, and Medicaid data experts, as well as CORN and other interested professional groups, and other relevant data experts. Two critical areas for immediate development of data sets are prenatal diagnosis and predispositional genetic testing. Both areas pose difficulties in the design and collection of basic data. In the case of prenatal diagnosis, most services are provided in private physician offices; although Medicaid can provide reimbursement information on prenatal diagnosis among its population, states vary widely in coverage of prenatal diagnosis and possible abortion of fetuses identified with genetic disorders (see Chapter 7). Predispositional testing is newer and likely to expand in the future (see Chapter 2). Much of such testing is now performed in research settings (see Chapter 3), but like prenatal diagnosis, it is likely to be done in physicians' offices as it moves into widespread use. The development of data and collection methods early in the dissemination of predispositional testing can provide a model for studying the dissemination of genetic testing into medical practice generally, as well as for monitoring professional practices in relation to professional guidelines and the recommendations of this committee. RESEARCH ON POPULATION GENETICS There is a need for better information on the frequency and distribution of disease-related mutations in defined populations, an important part of population genetics. The availability of better information is critical in refining the risk estimates given to clients and their families in genetics education and in counseling about various genetic disorders. Such information is also essential in determining changing patterns in genetic disorders, such as the reduction in TaySachs disease in North Americans over the past 20 years.

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Assessing Genetic Risks: Implications for Health and Social Policy The committee believes that such intensive population genetics studies are needed, but that the design of such studies requires the utmost care in the protection of study participants. In particular, these studies need to ensure that participants understand that their participation is for research purposes only and that no health or other personal benefit will come from the research. The committee also notes that data and analysis from population studies have in the past been used against some population groups, as in the often bitter debates about the genetic basis of intelligence. Special care is needed in the design and implementation of all genetics studies to ensure that their unintended consequences do not jeopardize future genetic testing and screening programs that have direct health benefits. REFERENCES Committee on Government Operations. 1992. Designing Genetic Information Policy: The Need for an Independent Policy Review of the Ethical, Legal, and Social Implications of the Human Genome Project, House Report 102-478. U.S. House of Representatives. Washington, D.C. Council of Regional Networks for Genetic Services (CORN). 1992. Newborn Screening: 1990 (Final Report). New York: CORN. Gellman, R. 1992. Genetic privacy. Presentation before the Committee on Assessing Genetic Risks. Washington, D.C. September. General Accounting Office (GAO). 1992. Child Abuse: Prevention Program Needs Greater Emphasis. Washington, D.C. Hogness, J., and VanAntwerp, M. 1991. The Artificial Heart: Prototypes, Policies, and Patients. Washington, D.C.: National Academy Press. House Committee on Government Operations, Subcommittee on Information, Justice, and Agriculture. 1992. Designing Genetic Information Policy: The Need for an Independent Policy Review of the Human Genome Project. House Report 102-478. Washington, D.C.: U.S. Government Printing Office. Kaback, M. 1993. Tay-Sachs disease. In Scriver, C., et al. (eds.) The Metabolic Basis of Inherited Diseases (6th ed.). New York: Liss. Meaney, J. 1992 (published in 1994). National data on genetic services: Council of Regional Networks for Genetic Services. In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press. National Academy of Sciences (NAS). 1975. Genetic Screening: Programs, Principles, and Research. National Research Council. Washington, D.C.: NAS. National Academy of Sciences (NAS). 1992. DNA Technology in Forensic Science. National Research Council. Washington, D.C.: National Academy Press. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. 1983. Screening and Counseling for Genetic Conditions: The Ethical, Social, and Legal Implications of Genetic Screening, Counseling, and Education Programs. Washington, D.C.: U.S. Government Printing Office. Proud, V. 1992 (published in 1994). On-line genetics public education. In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press. Wertz, D. 1992 (published in 1994). International code of ethics for genetics . In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press.

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