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USPSTF 2019 recommends referring women at increased risk of BRCA-related cancer for genetic counseling (B recommendation)
Clinical Question
Should primary care clinicians assess women for risk of BRCA-related cancer and refer those at increased risk for genetic counseling?
Bottom line
In this updated 2019 review, The U.S. Preventive Services Task Force (USPSTF) recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or with an ancestry (Ashkenazi Jewish) associated with BRCA1/2 gene mutations with an appropriate assessment tool. Women with a positive result on the risk assessment tool should be offered genetic counseling, and then genetic testing and possibly treatment when indicated. (B recommendation) The Task Force recommends against routine risk assessment for women without a personal or family history or ancestry associated with increased risk of BRCA-related cancer. (D recommendation) These recommendations are consistent with the 2013 USPSTF recommendation statement. 2c
Reference
Study design: Practice guideline
Funding: Government
Setting: Population-based
Synopsis
In this updated review, the Task Force found no studies directly evaluating the effectiveness of risk assessment, genetic counseling, and genetic testing for reducing mortality from BRCA-related cancer or all-cause mortality. Moderate to high quality evidence does support the accuracy of 8 different risk assessment tools for guiding referrals to genetic counseling. Tools recommended by the Task Force are those specific for estimating an individual's risk of carrying a harmful BRCA1/2 mutation and not tools used for general breast cancer risk assessment (e.g. Gail model). See the USPSTF website for a list of specific approved risk assessment tools. Overall women undergoing genetic counseling report an increased understanding of risk and a decreased intention for testing. Genetic testing is associated with reduced breast cancer worry, anxiety, and depression in women testing negative and understandably increased anxiety in women with positive results. The Task Force found that overall harms of risk assessment, genetic counseling, genetic testing, and interventions, including medications and surgery, are small to moderate. A number of national organizations including The American College of Obstetricians and Gynecologists also recommend performing a hereditary cancer risk assessment and referral to a genetics counselor for those women testing positive for increased risk.
Reviewer
David C. Slawson, MD
Professor and Vice Chair of Family Medicine for Education and Scholarship
Atrium Health
Professor of Family Medicine, UNC Chapel Hill
Charlotte, NC