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USPSTF Recommendation on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer


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As reported in JAMA, the U.S. Preventive Services Task Force (USPSTF) recommended risk assessment and, if indicated, genetic counseling and testing for potentially harmful BRCA1/2 mutations in women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have ancestry associated with BRCA1/2 mutations. The recommendation is an update to the USPSTF 2013 recommendation.

To inform the updated recommendation, the USPSTF reviewed evidence on risk assessment, genetic counseling, and genetic testing among asymptomatic women never diagnosed with BRCA-related cancer and among those with a previous diagnosis of breast, ovarian, tubal, or peritoneal cancer who have completed treatment and are considered cancer-free. The USPSTF also reviewed evidence on interventions to reduce the risk for such cancers in women with potentially harmful BRCA1/2 mutations, including intensive screening, medications, and risk-reducing surgery.

For women whose family or personal history is associated with increased risk for harmful BRCA1/2 mutations, or who have an ancestry associated with BRCA1/2 mutations, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are moderate.

For women with a personal or family history or ancestry that is not associated with increased risk for harmful BRCA1/2 mutations, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are small to none. Regardless of family or personal history, the USPSTF found adequate evidence that the overall harms of risk assessment, genetic counseling, genetic testing, and interventions are small to moderate.

The USPSTF recommended that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing (B recommendation: USPSTF recommends the service as there is high certainty that the net benefit is moderate, or there is moderate certainty that the net benefit is moderate to substantial).

The USPSTF recommended against routine risk assessment, genetic counseling, or genetic testing for women with a personal or family history or ancestry that is not associated with potentially harmful BRCA1/2 mutations (D recommendation: USPSTF recommends against the service as there is moderate or high certainty that the service has no net benefit or that the harms outweigh the benefits).

The USPSTF is an independent, voluntary body. The U.S. Congress mandates that the Agency for Healthcare Research and Quality (AHRQ) support the operations of the USPSTF. ■

U.S. Preventive Services Task Force: JAMA. August 20, 2019 (early release online).

 


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