BRCA Testing Vastly Underused, Researchers Say

By Amir Khan

Women with a mutation on the BRCA gene are at a five-times higher risk for breast cancer -- but with a simple blood test available to detect the mutation, why don’t more women take advantage? That’s the question French researchers are asking at the European Society of Human Genetics meeting in Germany after discovering that although the rate of testing is increasing, at-risk patients aren’t getting screened enough.

"Given that such testing can provide many options to enable individuals to manage their cancer risk, it is vital to encourage awareness and acceptance among both the public and medical professionals," Pascal Pujol MD, lead researcher and head of the cancer genetics department at Montpellier University Hospital in France, said in a statement. "For example, removal of the ovaries in women over 40 years old who carry a BRCA mutation decreases their overall cancer mortality by 20%, and prophylactic mastectomy can reduce the chances of breast cancer in women carrying such a mutation by around 90%.”

But even women who don’t want to undergo a preventive mastectomy if the BRCA gene is found, as actress Angelina Jolie recently did, they would benefit from getting screened, said Susan Klugman, M.D., director of reproductive genetics at Montefiore Medical Center in New York.

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“I think it’s wonderful what Angelina Jolie did, but people think the only way to treat it is by removing the breasts, which isn’t true,” she said. “You can have increased surveillance, or you can do medical therapy.”

The researchers found that the number of BRCA tests conducted in France between 2003 and 2011 increased by 252 percent, but said it’s still a small fraction of the 1 in 200 women who are estimated to have the BRCA gene worldwide. The number of tests per year in the United States is unclear, said Dr. Kulgman, but it has been increasing.

“We are seeing a lot more patients, and the insurance criteria has allowed us to test more women,” she said.

With breast cancer so prevalent, she added, Klugman said she talks to every woman about their risk of having the BRCA gene mutation and developing breast cancer.

“We talk to patients and assess their family history to see whether or not they’re at risk for hereditary cancer,” she said. “Breast cancer affects in 1 in 8 women, and about 7 to 10 percent of those breast cancers are considered hereditary, 80 percent of which is attributed to the BRCA gene mutation.”

Researchers also looked at the number of tests for the MMR mutation — a genetic mutation linked to a form of colorectal cancer known as Lynch syndrome. Between 2003 and 2011, tests for the MMR mutation only increased by 42 percent in France. Klugman said that at least in the United States, the criteria to be tested for the MMR mutation is much stricter, which could explain why it has not increased as steadily as BRCA testing.

“You need to have three generations of colon cancer to be a candidate for the test,” she said. ”It’s easier to meet the criteria for BRCA testing."

“It can also be more expensive [than BRCA testing],” Klugman added.

Insurance criteria has relaxed over the past decade, which has made it easier for women to get tested for the BRCA mutation, she said. However, more needs to be done to spread awareness to encourage more women to get tested.

“Everyone has the gene, it functions to prevent cancer,” she said. “When the gene is mutated, you lose that mutation and increase your risk for cancer. I think the problem is that there is a stigma attached to having a genetic mutation.”

And although the researchers only looked at numbers in France, Dr. Pujol said it’s likely that the same will be seen elsewhere in the world, making awareness of the test that much more important.

“It is extremely worrying that such a simple test, which has the potential to spare whole families from devastating illness, is being so under-used,” he said in the statement. “We urgently need a major program of awareness.”

BRCA Testing Vastly Underused, Researchers Say originally appeared on Everyday Health.