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June 19, 2018

Direct-to-Consumer Genetic Testing: The Implications of the US FDA’s First Marketing Authorization for BRCA Mutation Testing

Author Affiliations
  • 1Division of Hematology Oncology, Knight Cancer Institute, Oregon Health and Science University, Portland
  • 2Section of General Internal Medicine, Veterans Affairs Medical Center, Portland, Oregon
  • 3Center for Health Care Ethics, Oregon Health and Science University, Portland
JAMA. 2018;319(23):2377-2378. doi:10.1001/jama.2018.5330

On March 6, 2018, the US Food and Drug Administration (FDA) granted the first marketing authorization to 23andMe, a personal genomics and biotechnology company, for a direct-to-consumer (DTC) genetic test: testing for 3 BRCA1 or BRCA2 mutations to identify women at increased lifetime risk of breast cancer.1 The FDA granted authorization based on the accuracy and reproducibility of the test for 3 BRCA mutations that are most common in people of Ashkenazi Jewish descent, but which also occur in the general population. 23andMe hailed the decision as a “milestone in consumer health empowerment,”2 allowing women to test for common BRCA mutations. Consumers simply mail a swab of saliva to 23andMe and receive results in 6 to 8 weeks at a cost of $199.3