USPSTF updates BRCA1/2 screening recommendations

August 27, 2019
Ben Schwartz
Ben Schwartz

Ben Schwartz is Associate Editor, Contemporary OB/GYN.

The US Preventive Services Task Force (USPSTF) recently released updated recommendations on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer.

The US Preventive Services Task Force (USPSTF) recently released updated recommendations on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. The recommendations were published in JAMA and provide an update to the 2013 USPSTF recommendations on the subject.

The USPSTF compared evidence on risk assessment, genetic counseling, and genetic testing for BRCA1/2 mutations in asymptomatic women who have never been diagnosed with BRCA with women who have had a previous diagnosis of breast, ovarian, tubal or peritoneal cancer and have completed treatment and are considered cancer-free. The USPSTF also reviewed risk reduction interventions for the same cancers in women with BRCA1/2 mutations, including intensive cancer screening, medications, and risk-reducing surgery.

The task force found that for women with a family or personal history or ancestry associated with an increased risk of harmful mutations in BRCA1/2 genes, there is ample evidence that there are moderate benefits to risk assessment, genetic counseling, genetic testing, and interventions. Women who do not have a family or personal history or ancestry associated with increased risk of harmful BRCA1/2 genes, the benefits of risk assessment, genetic counseling, genetic testing, and interventions, are small to none. However, regardless of a woman’s personal or family history, the overall harms of risk assessment, genetic counseling, genetic testing and interventions are small to moderate.

The updated recommendations urge primary care physicians and ob/gyns to assess women with a personal or family history of breast, ovarian, tubal or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool.

The USPSTF evaluated the following tools: Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, 7-Question Family History Screening Tool, International Breast Cancer Intervention Study instrument (Tyrer-Cuzick). Women who have a positive result from the risk assessment tool should receive genetic counseling and genetic testing, if indicated after counseling. However, the USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potential harmful BRCA1/2 gene mutations.