This chapter discusses how clinical epidemiologic concepts and methods can be used to assess whether one or more genetic variants (e.g. genome profiles) can be used to predict risk for human diseases. It first explains how genetic contributions to monogenetic and complex diseases differ, and how these differences affect the predictive value of genetic tests. It then reviews some measures for the clinical validity and utility of a single genetic test. The clinical validity and clinical utility of a genetic test depend on the disease risk, the genotype frequency, and the association of a genetic marker with the risk of disease. Different performance measures can lead to different conclusions about the value of genetic testing; therefore, each of these measures should be reported and evaluated in the context of the others. The HuGE Navigator includes the HuGE Risk Translator, which can be used to calculate measures of clinical validity and clinical utility based on combinations of epidemiological parameters (measures of disease risk, genotype frequency, and association) supplied by the user.

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Department of Epidemiology

Janssens, C., Gwinn, M., & Khoury, M. J. (2010). Evaluation of predictive genetic tests for common diseases: Bridging epidemiological, clinical, and public health measures. doi:10.1093/acprof:oso/9780195398441.003.0022