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Comment & Response
January 14, 2020

Recommendations Related to Genetic Testing for Breast Cancer—Reply

Author Affiliations
  • 1Virginia Commonwealth University, Richmond
  • 2Stanford University, Stanford, California
  • 3Department of Medicine, University of California, Los Angeles
JAMA. 2020;323(2):188-189. doi:10.1001/jama.2019.18222

In Reply Dr Pinsky asks for more clarity on the USPSTF’s recent recommendation. The USPSTF found that women with a personal or family history of breast or ovarian cancer, or an ancestry associated with BRCA1/2 mutations, are at increased risk for having a BRCA1/2 mutation.1 For these women, the benefits of risk assessment and potentially counseling and testing outweigh the harms. Determining whether a woman may be a candidate for referral for counseling and possible genetic testing is a multistep process for primary care clinicians. The first step is to identify women with a personal or family history of breast or ovarian cancer or an ancestry associated with BRCA1/2 mutations (eg, Ashkenazi Jewish women). For these women, the next step is to perform a risk assessment using 1 of several brief risk assessment tools. Last, for women found to be at higher risk using these tools, clinicians should refer or provide genetic counseling. This includes more definitive risk assessment, counseling about genetic testing, shared decision-making about whether to be tested, and potentially genetic testing.