Task Force Makes Final Recommendations on - U.S. Genetic Testing

Task Force Makes Final Recommendations on
U.S. Genetic Testing

October 1997

A diverse group of scientists, health care professionals, business people, regulators, health insurers, and consumers have concluded their two-year analysis of genetic testing in the United States with a published set of recommendations to help ensure such tests are safe and effective. The report, entitled Promoting Safe and Effective Genetic Testing in the United States contains suggestions for federal agencies, testing laboratories and health professionals.

"For the most part," the report says, "genetic testing in the United States has developed successfully, providing options for avoiding, preventing and treating inherited disorders." But the rapid pace of test development combined with the rush to market them may create an environment in which the tests are available to health care consumers before they have been adequately validated, says Neil A. Holtzman, M.D., M.P.H., professor of pediatrics and director of genetics and public policy studies at the Johns Hopkins Medical Institutions, who chaired the Task Force on Genetic Testing that developed the recommendations.

Holtzman, Task Force co-chair Michael S. Watson, Ph.D., and panel members Patricia Murphy, Ph.D., and attorney Patricia Barr comment in the October 24 issue of the journal Science on a part of the report that examines policies for acquiring safety and effectiveness information on genetic tests before they are used in clinical practice.

Launched in 1994 by the former National Institutes of Health (NIH)-Department of Energy Joint Working Group on the Ethical, Legal and Social Implications of Human Genome Research, the Task Force was charged with comprehensively evaluating genetic testing in the United States and recommending "policies that will reduce the likelihood of damaging effects so the benefits of testing can be fully realized."

The Task Force examined such issues as the accuracy of genetic tests, the reliability of the tests at predicting disease, and the quality of laboratories providing the tests, and qualifications of health care providers who administer the tests.

Because of the rapid pace of new test development, not all tests can be examined with the same scrutiny. The report makes recommendations for considering which among the wide array of genetic tests require closer scrutiny for safety and effectiveness. While tests for some disorders may be relatively straightforward, the implications and interpretation of others may be more complex. Closer examination is most important, for example, for tests that will be used to predict a risk of future disease in people who are currently healthy and when no other tests are available to confirm that prediction.

Because genetic tests may not be perfect predictors of future disease, the report suggests that information about their limitations needs to be collected and made available to health care providers and to people considering genetic testing. Further, the report says, genetic counseling is particularly important for predictive tests because results may not provide definite answers about disease risk and effective treatments may not be available.

The Task Force calls upon the Secretary of the U.S. Department of Health and Human Services to establish an advisory committee on genetic testing to establish a system for determining which tests require "stringent scrutiny," and to help implement its recommendations. An evaluation system is needed, it says, that can be applied generally to all new tests, rather than test-by-test.

The Task Force presented a draft of its report to the National Advisory Council on Human Genome Research (NACHGR) last May. The council recommended that Francis S. Collins, M.D., Ph.D., director of the National Human Genome Research Institute, transmit the final report to the Secretary of Health and Human Services (HHS). Collins delivered the report to HHS Secretary Donna Shalala last week.

The National Human Genome Research Institute (NHGRI), a component of the National Institutes of Health (NIH), is a major partner in the Human Genome Project, the international research effort to map the estimated 80,000 genes and read the complete set of genetic instructions encoded in human DNA. NHGRI also supports research on the application of genome technologies to the study of inherited disease, as well as the ethical, legal and social implications of this research. For more information about NHGRI or the Human Genome Project, visit our www.genome.gov.

Task Force on Genetic Testing

• Neil A. Holtzman, M.D., M.P.H., Chair, The Johns Hopkins Medical Institutions
• Michael S. Watson, Ph.D., FACMG, Co-Chair, Washington University School of Medicine American College of Medical Genetics
• Patricia A. Barr, National Breast Cancer Coalition
• David R. Cox, M.D., Ph.D., ELSI Working Group
• Jessica Davis, M.D., Council of Regional Networks for Genetic Services
• Stephen I. Goodman, M.D., M.Sc., American Society of Human Genetics
• Wayne W. Grody, M.D., Ph.D., College of American Pathologists
• Arthur L. Levin, M.D., Alliance for Managed Care
• J. Alexander Lowden, M.D., Ph.D., Health Insurance Association of America
• Patricia Murphy, Ph.D., FACMG OncorMed
• Patricia J. Newman, M.D., American Medical Association
• Victoria O. Odesina, R.N., Sc.M., M.S., Alliance of Genetic Support Groups
• Nancy Press, Ph.D., ELSI Working Group
• Katherine A. Schneider, M.P.H., National Society of Genetic Counselors
• David D. Singer, Elliot Hillback, Biotechnology Industry Organization
• Government Liaison (non-voting) Member Steven Gutman, M.D., Food and Drug Administration
• Muin J. Khoury, M.D., Ph.D., Centers for Disease Control and Prevention
• Linda R. Lebovic, Health Care Financing Administration
• Jane Lin-Fu, M.D., Health Resources and Services Administration