USPSTF Recommends BRCA Mutation Screening for High-risk Women Only

Task Force Identifies Appropriate Screening Tools FPs Can Use

April 03, 2013 03:50 pm Matt Brown

The newest draft recommendation statement(www.uspreventiveservicestaskforce.org) from the U.S. Preventive Services Task Force (USPSTF) encourages primary care health professionals to screen women with a family history of breast or ovarian cancer using a screening tool specifically designed to pinpoint whether that family history may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes BRCA1 or BRCA2. The task force recommends against routine genetic counseling or testing for the majority of women outside this high-risk group.

According to USPSTF Co-vice Chair Michael LeFevre, M.D., M.S.P.H., of Columbia, Mo., the task force recommends that physicians use one of several tools to screen women who have family members with breast or ovarian cancer. Such devices include the FHS-7 (a seven-question family history screening instrument) and the six-question Referral Screening Tool (RST). The task force also recommended that women with a positive screening result should receive genetic counseling and, if indicated after counseling, BRCA testing.

"There are a group of women who have specific genetic mutations that put them at a very high risk for both breast and ovarian cancer, and there are treatments -- particularly surgical treatments -- that appear to be effective in substantially reducing that risk," LeFevre told AAFP News Now. "So, the goal here is to try and find these women and provide them the opportunity to be tested for the genetic problem and make their own personal decision about whether and when they would like to undergo any treatment."

story highlights

  • The U.S. Preventive Services Task Force (USPSTF) has issued a draft recommendation encouraging primary care health professionals to screen women with a family history of breast or ovarian cancer using a screening tool specifically designed to pinpoint whether that family history may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes BRCA1 or BRCA2.
  • The task force also recommended that women with a positive screening result should receive genetic counseling and, if indicated after counseling, BRCA testing.
  • The USPSTF recommends against routine genetic counseling or testing for the majority of women outside this high-risk group.

LeFevre said that from his perspective as a family physician, it is important to differentiate between this select group of women and the majority of women, who are not at high risk for breast or ovarian cancer.

"About 90 percent of the women we see do not have a family history associated with an increased risk for these gene mutations," he said. "I don't think that I, personally, do a good job of identifying those who do (have an increased risk), so I think this recommendation is targeted at people like me.

"When family physicians have someone like this who has a family history of breast or ovarian cancer, they need to take the next step and learn more about that family history and decide whether or not the woman is a candidate to be referred on for more in-depth counseling and potential testing."

LeFevre said that although there are no substantive changes in screening population from what appeared in the 2005 USPSTF recommendation, the task force is more explicit in pointing out specific screening tools in the current guidance.

"Since our last recommendation, there has been some work on identifying simple screening tools that family physicians can use to identify women who might be candidates for more intensive genetic counseling," he said. "The FHS-7 and RST are two tools that are mentioned here in the recommendation, both of which offer fairly simple questions."

With regard to the task force recommending against routine genetic counseling or routine BRCA testing of the 90 percent of women whose family history is not associated with an increased risk for potentially harmful mutations in BRCA1 or BRCA2, LeFevre said it comes down to harms outweighing benefits.

"The reflex of just automatically doing the gene test and figuring it out later is probably not a good idea, and that's what we are recommending against," he said. "If patients don't meet the specific criteria, then we shouldn't be doing the test, because the consequences are potentially pretty serious."

LeFevre said the downsides associated with the test -- labeling, potential insurance consequences and the severity of any follow-up treatments -- need to be considered.

"The treatments that have been studied the best are surgical -- specifically, bilateral mastectomy for breast (cancer) and bilateral oophorectomy for ovarian cancer," he said. "So we are talking about a pretty serious treatment that you wouldn't want to do for a false-positive or indeterminate test result."

The draft recommendation statement is available for comment until April 29 at 5 p.m. EDT.

The AAFP Commission on Health of the Public and Science is reviewing the USPSTF draft recommendation and evidence report and will comment on the draft and make recommendations to the Academy's Board of Directors regarding any indicated changes in current AAFP policy (scroll down to "Breast Cancer/BRCA Mutation Testing).


please wait Processing