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. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care. Table of ContentsFront MatterSummary1 Introduction2 Genetic Testing3 Genetic Test Assessment4 Evidence5 An Evidence Framework for Genetic TestiAppendix A: Understanding Genetic Variance and Phenotype ExpressionAppendix B: The GETT ChecklistAppendix C: Using Evidence to Inform Clinical and Policy DecisionsReferencesGlossary