An Evidence Framework for Genetic Testing


Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. Within that context, the Department of Defense (DoD) Office of Health Affairs asked the National Academies of Sciences, Engineering, and Medicine to convene a committee to examine the relevant medical and scientific literature to determine the evidence base for different types of genetic tests (e.g., predictive, diagnostic, and prognostic) for patient management; and to develop a framework for decision making regarding the use of genetic tests in clinical care. The committee focuses on the clinical applications and clinical utility of genetic tests and examines how evidence is generated, evaluated, and summarized. Finally, the committee provides an evidence based framework that is broadly applicable to the assessment of genetic and other molecular technologies.