USPSTF supports counseling, BRCA tests for at-risk women

December 24, 2013
USPSTF supports counseling, <i>BRCA</i> tests for at-risk women

(HealthDay)—Nine of 10 women do not need and should not receive genetic testing to see if they are at risk for breast or ovarian cancer, an influential panel of health experts announced Monday.

The U.S. Preventive Services Task Force (USPSTF) reaffirmed its previous recommendation from 2005 that only a limited number of women with a family history of breast cancer be tested for mutations in the BRCA1 and BRCA2 genes that can increase their cancer risk.

Even then, these women should discuss the test with both their family doctor and a genetic counselor before proceeding with the BRCA genetic test, the panel said.

"Not all people who have positive family histories should be tested. It's not at all simple or straightforward," said Dr. Virginia Moyer, the task force's chair.

Interest among women in genetic testing for breast cancer has greatly increased, partially due to Hollywood film star Angelina Jolie's announcement in May that she underwent a double mastectomy because she carried the BRCA1 mutation.

A Harris Interactive/HealthDay poll conducted a few months after Jolie's announcement found as many as 6 million women in the United States planned to get medical advice about having a preventive mastectomy or ovary removal because of the actress' personal decision.

On average, mutations of the BRCA genes can increase breast cancer risk between 45 percent to 65 percent, according to the American Cancer Society.

The problem is that there are myriad mutations of the BRCA gene. Doctors have identified some mutations that increase breast cancer risk, but there are many more BRCA mutations where the increased risk is either low or as yet unknown.

"The test is not something that comes back positive or negative. The test comes back a whole lot of different ways, and that has to be interpreted," Moyer said. "There are a variety of mutations. Often you get what appears to be a negative test but we call it an 'uninformative' negative because it just doesn't tell you anything. A woman would walk away from that with no idea, but worried, and that's not helpful."

Earlier this month, the genetic testing company 23andMe announced it's no longer offering health information with its home-based kit service after the U.S. Food and Drug Administration warned that the test is a medical device that requires government approval.

The new task force recommendations will be published online Dec. 23 in the Annals of Internal Medicine.

The task force's judgment carries heavy weight within the health care industry. For instance, the federal government's list of preventive health care measures that insurers must provide free of charge under the Affordable Care Act is based on USPSTF recommendations.

According to the task force, about 90 percent of American women do not have a family history associated with an increased risk for BRCA mutations, and even fewer will have a mutation that could lead to breast cancer.

"Only two or three women in a thousand have these mutations. Doing this is not going to prevent most breast cancers," Moyer said.

Medical experts are concerned that many women will undergo unnecessary surgery following an unclear genetic test, having their breasts or ovaries needlessly removed to prevent a cancer risk they never had.

"All of us have a copy of the BRCA gene, and some of us have a mutation," said Dr. Otis Brawley, chief medical officer of the American Cancer Society. "Some mutations increase the risk of breast cancer by up to 85 percent, others by 40 percent, others by 10 percent."

"But the woman who now knows she has a mutation is very frightened and very upset, and no amount of explaining that it's of little to no significance will help," Brawley continued.

Both Brawley and Moyer emphasized that any woman interested in BRCA screening should meet with a certified genetic counselor before proceeding. The counselor will take a very detailed clinical history of the patient and assess whether they would benefit from the test.

"The key here is that women who think they might want the test should talk to a genetic counselor, and that genetic counselor should explain the risks and benefits of the test and help them make the decision," Brawley said. "A physician shouldn't necessarily be the person doing it. It should be a certified genetic counselor. Most doctors are not skilled at doing this."

The task force is an independent, volunteer panel of national experts in prevention and evidence-based medicine. It routinely issues recommendations about clinical preventive services such as screenings, counseling services and preventive medications.

Explore further: USPSTF: BRCA testing for women with family history

More information: Full Text - Evidence Review
Full Text - Recommendation Statement

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