USPSTF updates recommendation on screening, counseling, testing for BRCA-related cancer

The U.S. Preventive Services Task Force (USPSTF) has updated its screening recommendations related to screening, genetic counseling and testing for BRCA-related cancers. The full recommendation statement was published in JAMA.

“Potentially harmful mutations of the BRCA1/2 genes are associated with increased risk for breast, ovarian, fallopian tube and peritoneal cancer,” according to the statement. “For women in the United States, breast cancer is the most common cancer after nonmelanoma skin cancer and the second leading cause of cancer death.”

Overall, the USPSTF recommends that women with a personal or family history of breast, ovarian, tubal or peritoneal cancer or an ancestry associated with BRCA1/2 mutations be screened with a risk assessment tool. A positive result should then lead to genetic counseling and, if indicated following that counseling, genetic testing. This plan of action is given a “B” recommendation. According to the USPSTF website, this letter grade means “there is high certainty that the net benefit is moderate or there is moderate certainty that the net benefit is moderate to substantial.”

When women do not have any personal or family history or breast, ovarian, tubal or peritoneal cancer—or an ancestry associated with BRCA1/2 mutations—the USPSTF recommends against routine risk assessment, genetic counseling or testing. This plan of action received a “D” recommendation, meaning “there is moderate or high certainty that the service has no net benefit or that the harms outweigh the benefits.”

This latest ruling does represent an update compared to the USPSTF’s 2013 recommendation.

“Since 2013, the validity of genetic testing for BRCA1/2 mutations has been established and the potential benefits and harms of previously reviewed interventions, such as risk-reducing medications and surgery, have been studied for longer follow-up periods,” according to the statement. “In addition, there have been more studies of newer imaging techniques (breast MRI), surgical procedures (salpingo-oophorectomy rather than oophorectomy alone), and medications (aromatase inhibitors). The updated recommendation expands the population eligible for screening to include women with a previous breast, ovarian, tubal, or peritoneal cancer diagnosis who have completed treatment and are considered cancer free and more explicitly includes ancestry associated with BRCA1/2 mutations (ie, founder mutations) as a risk factor.”

This recommendation is only related to women, the USPSTF emphasized in its statement.

“The USPSTF did not review evidence on the benefits or harms of risk assessment, genetic counseling, and genetic testing in men,” according to the statement.