USPSTF updates BRCA cancer screening recommendations

The U.S. Preventative Services Task Force (USPSTF) released updated recommendations for BRCA1/2 testing, suggesting practitioners increase the use of genetic counseling and testing.

Specifically, the USPSTF recommends clinicians assess women with a personal or family history of breast, ovarian, tubal or peritoneal cancer associated with BRCA gene mutations using a brief risk assessment tool. Those with positive results should undergo genetic counseling, and if necessary, genetic testing—a USPSTF designated “B” recommendation.

The Task Force recommends against performing a risk assessment, genetic counseling or genetic testing in women without a personal or familial history associated with BRCA1/2 gene mutations.

“There are several steps women can take to find out if they are at increased risk for BRCA gene mutations and if genetic counseling and BRCA testing is needed,” said Carol M. Mangione, MD, MSPH, Task Force member, in a prepared statement. “Women who have a personal or family history of certain types of cancers, or have ancestry associated with the BRCA mutations should discuss their risk with their clinician and, if indicated, undergo counseling and potentially genetic testing. Because these tests are not without harms, testing for BRCA mutations in women without these risk factors is not recommended.”

The guidelines are an update to the USPSTF’s 2013 recommendations and have been modified to include a wider variety of patients, said Susan Domcheck, MD, executive director of the Basser Center for BRCA at the University of Pennsylvania in an editorial accompanying the recommendations.

“The statement adds those who have previously been diagnosed with breast or ovarian cancer, but are now cancer free, to the list of those who should undergo careful genetic risk-assessment, which is a positive addition as finding a BRCA1/2 mutation in these patients could directly impact their medical care and have implications for their relatives,” Domcheck added. “It also more explicitly includes ancestry as a risk factor."

Although the new recommendations are a step in the right direction, Domcheck said, more needs to be done to reduce the racial and socioeconomic disparities in genetic testing for BRCA mutations.

“It’s the duty of all health care professionals to help our patients effectively employ genetic testing,” she said. “These updates are a positive step forward, but we need to continue advancing BRCA-related research and ensure that those at the highest risk have access to testing.”

The full recommendations were published online Aug. 20 in JAMA.