General Approach To Genetic Testing

Commercially available genetic tests can perform a host of functions, such as providing a guided intervention in both symptomatic or asymptomatic people, identifying people at risk for future disorders, predicting the prognosis of a diagnosed disease, and predicting the appropriate treatment response. The conceptual framework provided herein offers an outline for evaluating the utility of genetic tests, by classifying the types of genetic tests into clinically relevant categories and developing criteria that can be used for evaluating tests in each category. This conceptual framework addresses genetic testing in nonreproductive settings. Genetic testing in reproductive settings is addressed separately (eg, evidence reviews 2.04.107, 2.04.116, 4.02.05). For categories of genetic testing for which the benefit of testing is the individual, criteria for medical necessity apply. When the benefit of testing is not for the individual, but for a family member, medical necessity criteria may not apply, and the criteria are developed for clinical utility.