Task Force on Genetic Testing

Task Force on Genetic Testing

Joint NIH-DOE Ethical, Legal and Social Implications
Working Group of the Human Genome Project

April 1995

A decade ago, scanning genes for disease-linked alterations seemed foreign to most Americans. Now, an increasing number of people with a family history of a disease may have the opportunity, through the availability of a simple blood test, to learn their inherited risk for that condition. Such tests may also be used to assess genetic disease risk in the general population. Several genetic tests are already on the market. More are on the way, promising to move genetic testing into the primary-care arena in the near future.

But like any medical procedure, genetic tests pose benefits as well as potential risks. Just as a drug is not prescribed without knowing its possible toxicities, genetic testing should not be offered without knowing the accuracy and sensitivity of the tests in high-risk families and in the general population, as well as the safety and effectiveness of medical interventions for people who are found to carry DNA alterations that put them at high risk for disease.

Recognizing this need, the National Institutes of Health-Department of Energy (NIH-DOE) Joint Working Group on the Ethical, Legal and Social Implications (ELSI) of Human Genome Research has launched the Task Force on Genetic Testing. This committee has been charged to perform a comprehensive, two-year evaluation of the current state of genetic testing technologies in the United States. In keeping with the mandate of the National Human Genome Research Institute, a component of the National Institutes of Health, to ensure the smooth integration of genetic testing into medical practice, the Task Force will examine critical issues, such as:

• How will the safety, effectiveness, and correct interpretation of the tests be ensured?
• How accurate is genetic testing at identifying mutations?
• How reliable is a positive test result as a predictor of disease?
• How will the quality of laboratories providing the tests be ensured?
• What are the psychological effects of genetic testing?
• Which counseling services are needed for patients to make an informed decision about whether or not to have a genetic test?
• What can individuals with an altered gene do to prevent the disease in the future?

To help build public consensus on these issues, the 20-member committee includes representatives from a diversity of backgrounds and points of view. It includes individuals from biotechnology companies and regulatory agencies, primary health care providers, geneticists, consumers, and health care insurers. The group will hold their first meeting in April.

Upon completing its evaluation, the Task Force will draft a final report containing policy options and recommendations for the clinical delivery of safe and effective genetic tests. The Task Force will submit its report to the ELSI Working Group, which in turn reports to the National Advisory Council for Human Genome Research and the Department of Energy's Health and Environmental Research Advisory Committee, which advise their respective agencies.

Committee Members

Neil A. Holtzman, M.D., Ph.D.
Professor of Pediatrics
Professor of Health Policy
Johns Hopkins Medical Institutions

Michael S. Watson, Ph.D., FACMG
Vice-Chair
Washington University School of Medicine
American College of Medical Genetics

Patricia A. Barr, J.D.
Barr, Sternberg, and Moss P.C.
National Breast Cancer Coalition

David R. Cox, M.D., Ph.D.
Stanford University School of Medicine
ELSI Working Group

Charles Cutler, M.D., M.S.
Prudential Insurance Company of America
Alliance for Managed Competition

Jessica Davis, M.D.
New York Hospital
Council of Regional Networks for Genetic Services

Stephen I. Goodman, M.D., M.Sc.
University of Colorado Health Sciences Center
American Society of Human Genetics

Wayne W. Grody, M.D., Ph.D.
University of California, Los Angeles Medical Center
College of American Pathologists

John A. Lowden, M.D., Ph.D.
Crown Life Insurance
Health Insurance Association of America

Patricia Murphy, Ph.D., FACMG
OncorMed, Inc.

Patricia J. Newman, M.D.
SUNY/Syracuse Health Science Center
American Medical Association

Victoria O. Odesina, R.N., Sc.M., M.S.
Gengras Ambulatory Center
Alliance of Genetic Support Groups

Nancy Press, Ph.D.
University of California, Los Angeles
Chosen by ELSI Working Group

Katherine A. Schneider, M.P.H.
Dana-Farber Cancer Institute
National Society of Genetic Counselors

David D. Singer
Affymetrix
Biotechnology Industry Organization

Government Liaison Members (non-voting)

Peter Bouxsein, J.D.
Agency for Health Care Policy and Research

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