The U.S. Preventive Services Task Force released new guidelines recommending BRCA mutation testing be limited to high-risk women who have received genetic counseling.

The U.S. Preventive Services Task Force (USPSTF) has updated its recommendations on BRCA mutation testing, essentially reaffirming its 2005 position that the tests be limited to high-risk women.

Published online December 24 in the Annals of Internal Medicine, the guidelines recommend that testing for mutations in BRCA1 and BRCA2 be limited to women who have a family history of breast, ovarian, tubal, or peritoneal cancer, and who first receive screening and genetic counseling. They recommend against routine genetic counseling or testing.

“We do provide better guidance” in the new document, says Virginia Moyer, MD, MPH, chair of the USPSTF, “while making it clear that more than 90% of women do not need this test.”

BRCA testing is inherently complex due to the many possible mutations. Certain mutations increase breast cancer risk by as much as 85%, while others have a moderate, low, or unknown impact.

“This is not a simple positive or negative test like some other population-based screenings,” says Moyer. Having a negative BRCA test does not rule out other genetic risks, and having a positive test can be misleading. “If a patient has a BRCA mutation, there is often no way to tell if it's likely to lead to cancer without background information about that patient's family,” notes Moyer.

To select candidates for testing, the USPSTF recommends that physicians screen women using one of several familial risk-stratification tools. Women deemed high-risk during screening are advised to meet with a health professional trained to provide genetic counseling and interpret test results, to determine if BRCA testing is appropriate and discuss potential harms of false-positive or inconclusive results.

“Regrettably, many women act on uninformative results by opting for interventions such as chemoprevention or surgery to remove breasts or ovaries,” says Moyer. “This is why genetic counseling is recommended.”

The guidelines apply to asymptomatic women who have not already been diagnosed with a BRCA-related cancer. Not including patients with previous diagnoses, critics say, could hinder their chances of having tests covered by insurance and put them at further risk.

“We did not evaluate the science required to make a recommendation for women who have a previous cancer diagnosis,” says Moyer. “This does not imply that these women should not be tested; they should talk with their physicians.”

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