Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing.

摘要: Despite remarkable progress, much remains unknown about the risks and benefits of genetic testing. No effective interventions are yet available to improve outcome most inherited diseases; negative test results might not rule out future occurrence disease, positive do necessarily mean disease will inevitably develop. In view this uncertainty, Working Group on Ethical, Legal, Social Implications Human Genome Research at National Institutes Health Department Energy created Task Force Genetic Testing. Comprising representatives fifteen major stakeholders in testing five government agencies involved with testing, task force was charged reviewing United States making recommendations ensure development safe tests. Promoting Safe Effective Testing members present conclusions their study. They begin by describing general principles including informed consent, children, confidentiality, discrimination. describe methods policies safety effectiveness new tests, criteria for developing tests ways ensuring compliance those criteria. then discuss how quality laboratories that perform role laboratory personnel monitoring performance. show health care professionals outside field genetics can better understand uses offer suggestions changes these professionals' education training. Finally, they a look rare disorders. Members Force: Neil A. Holtzman, M.D., M.P.H. * Michael S. Watson, Ph.D., F.A.C.M.G. Patricia Barr David R. Cox, Jessica G. Davis, M.D. Stephen I. Goodman, M.Sc. Wayne W. Grody, Ph.D. Arthur L. Levin, J. Alexander Lowden, D. Murphy, Numan, Victoria O. Odesina, R.N., Sc.M., M.S. Nancy Press, Katherine Schneider, B. Singer Steven Gutman, Muin Khoury, Lanier, Linda Lebovic Jane Lin-Fu,