Clinical validity and clinical utility of genetic tests

Abstract

In considering the appropriate use of new genetic tests, clinicians and health care policymakers must consider the accuracy with which a test identifies a patient's clinical status (clinical validity) and the risks and benefits resulting from test use (clinical utility). Genetic tests in current use vary in accuracy and potential to improve health outcomes, and these test properties may be influenced by the clinical setting in which the test is used. In addition, the relative importance of clinical validity and utility varies according to the proposed use of the test. This unit defines clinical validity and clinical utility, provides examples, and considers the implications of these test properties for clinical practice.