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March 19, 2020

Consumer Genomic Testing in 2020

Author Affiliations
  • 1Maine Dartmouth Family Medicine Residency, Fairfield
  • 2Associate Editor, JAMA
  • 3Feinberg School of Medicine, Northwestern University, Chicago, Illinois
JAMA. 2020;323(15):1445-1446. doi:10.1001/jama.2020.3525

Consumer genomic testing (CGT) can be defined as DNA tests sold or marketed directly to consumers for recreational, ancestry-related, or health-related purposes. Direct-to-consumer (DTC) testing does not typically involve a health professional in the selection of testing and return of test results, whereas consumer-driven genomic testing may involve a physician or other health professional who could have a financial relationship with the testing company. CGT has been part of the landscape of biomedicine for several decades.1 The earliest examples of these tests included DNA testing of a small number of single-nucleotide variations (SNVs) associated with nutritional status, drug metabolism, and mental health risk. Some of these tests were controversial; for example, tests that measured SNVs to predict risk of developing depression were criticized by geneticists, ethicists, and government regulators.2

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