In its efforts to complete a comprehensive overview of issues in genetic testing and screening, the Committee on Assessing Genetic Risks identified significant gaps in data, research, and policy analysis that impede informed policy making for the future. Surprisingly few data exist on the extent of genetic testing and screening today, for example, and no system is in place to gather data or to assess practices in relation to the committee's principles and recommendations for the future. The committee's review of the key data, research, and policy needs in genetic testing and screening has generated recommendations addressed to the Ethical, Legal, and Social Implications Program of the Human Genome Project, and several recommendations are addressed to other relevant agencies, including other components of the National Institutes of Health, the Agency for Health Care Policy and Research (AHCPR), the Centers for Disease Control and Prevention, the Food and Drug Administration, the Public Health Service (PHS), the Health Care Financing Administration, the Department of Health and Human Services (DHHS), the Department of Energy (DOE), the National Science Foundation (NSF), and a broad range of private organizations.
The committee strongly believes that effective oversight will be essential as genetic testing develops to ensure that genetic tests are validated and used appropriately, with respect for the potential harms such testing may pose. For effective overall and continuing policy oversight, the majority of the committee recommends the creation of a broadly representative National Advisory Committee and Working Group on Genetic Testing to oversee professional practices and determine when new genetic tests are ready for wide-scale use in medical practice (see Chapters 1 and 9).
Although the American Society of Human Genetics, National Society of Genetic Counselors, American Academy of Pediatrics, American College of Obstetricians and Gynecologists, and other professional organizations have developed policy statements on key policy issues in genetic testing, genetic testing has moved beyond the domain of genetics specialists alone. There is also a need for broad public involvement in the development of public policy 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. Increased public education will be required to equip the public to make informed personal and policy decisions in genetic testing (see Chapter 5). The proposed National Advisory Committee on Genetic Testing and its Working Group are intended to provide the essential broadly based scientific and public oversight for genetic testing and screening.