US oversight and regulation of genetic testing

Abstract

The oversight responsibilities for genetic testing in the United States (US) are shared by multiple governmental and non-governmental entities, including federal and state government agencies, healthcare payers, professional associations, and other sectors. This chapter describes: • The complex array of US oversight mechanisms and responsibilities related to genetic testing and the application of genetic tests and testing information in patient care and health management at the federal, state, and private-sector levels; • Issues and potential gaps in oversight mechanisms for genetic testing, such as concerns related to analytic validity, clinical validity, external quality assessment, clinical utility, and direct-to-consumer genetic testing; and • Ongoing efforts to promote quality testing and improve the utilization of genetic testing services in clinical and public health practices