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February 19, 2020

The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad

Author Affiliations
  • 1Perelman School of Medicine, Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia
  • 2Perelman School of Medicine, Division of Hematology-Oncology, Department of Medicine, University of Pennsylvania, Philadelphia
JAMA. Published online February 19, 2020. doi:10.1001/jama.2019.22504

Direct-to-consumer (DTC) genetic testing for disease susceptibility is largely dominated by 2 extremes—narrow tests that only screen for a few variants and broad tests that include dozens of genes. These tests may lack clinical utility for consumers wanting to understand their disease risks. In the context of genetic testing, clinical utility refers to the ability of a test to generate results that can be used to reduce morbidity and mortality through the adoption of medical management strategies, including screening and surgery. Narrow and broad tests, however, lack clinical utility for different reasons. Narrow tests are often incomplete, and only include a limited number of relevant variants.1 Broad tests, by contrast, are concerning because they often include genes for which well-established risk estimates, medical management guidelines, or both may be absent.

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