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Comment & Response
January 14, 2020

Recommendations Related to Genetic Testing for Breast Cancer

Author Affiliations
  • 1National Cancer Institute, Bethesda, Maryland
JAMA. 2020;323(2):187-188. doi:10.1001/jama.2019.18217

To the Editor The recent Recommendation Statement by the US Preventive Services Task Force (USPSTF)1 on risk assessment, genetic counseling, and genetic testing for breast cancer susceptibility (BRCA) gene mutations seems to contain some internal inconsistencies. The Summary of Recommendations and Evidence section stated that women with either a personal or family history of BRCA-related cancers or an ancestry associated with BRCA mutations are recommended for risk assessment. However, in the USPSTF Assessment section, net benefit of the intervention was only ascribed to women with the relevant family or personal history, and it was stated that the harms of risk assessment outweigh the benefits “in women whose family or personal history is not associated with an increased risk” for harmful BRCA mutations. Therefore, the task force appears to be recommending intervention for women with a BRCA-associated ancestry but no personal or family history (since such women satisfy the “or” logic in the recommendation) but also stating that the harms outweigh the benefits for these women. Another sentence in the text, under Estimate of Magnitude of Net Benefit, excluded even personal history, stating that the harms of risk assessment outweigh the benefits for women without a BRCA-associated family history. Although readers could presume that the task force would consider these interventions to have net benefit in women with the requisite ancestry but no relevant family or personal history, it is curious that these direct statements would exclude mention of ancestry. It would be helpful if the task force could provide added clarity with regard to these net benefit statements and their relation to the overall recommendation.