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Fifteen years after the Human Genome Project, genomic variants have been associated with disease risk and outcomes in thousands of publications. Based largely on this literature, physicians who order genetic testing receive reports that indicate whether “pathogenic” variants have been found. This information aspires to form the basis of precision medicine. Knowledge of pathogenic variants is expected to lead to optimal management of individuals as well as their families through recommendations about further screening, prevention, and tailored treatment. However, in this Viewpoint, we suggest that current information on pathogenic variants is typically impossible to act on. This information is often unreliable and generally does not provide a quantitative measure of risk. The information the physician usually needs is the likelihood of disease among patients with the variant (penetrance), and an assessment of whether the genetic profile requires action or not.
Manrai AK, Ioannidis JPA, Kohane IS. Clinical GenomicsFrom Pathogenicity Claims to Quantitative Risk Estimates. JAMA. 2016;315(12):1233-1234. doi:10.1001/jama.2016.1519