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Women With Breast Cancer Miss Out On Recommended Genetic Testing

Tests for mutations in BRCA genes that increase the risk of ovarian and breast cancer can help guide treatment and prevention.
Douglas C. Pizac
Tests for mutations in BRCA genes that increase the risk of ovarian and breast cancer can help guide treatment and prevention.

Women with breast cancer who are at high risk for having a BRCA mutation that raises cancer risk often don't get genetic testing, or even a chance to speak with a genetic counselor who'd help them weigh the necessity of such a test, a study finds.

Mutations in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancers, and women with close relatives who have had those cancers are considered at higher risk of having BRCA mutations themselves. Both the National Cancer Institute and the United States Preventative Task Force recommend that those patients talk to a genetic counselor about whether or not to get the BRCA test.

But the study that surveyed newly diagnosed breast cancer patients found that while 80.9 percent of high-risk patients wanted testing, only 39.6 percent had had a counseling session, and 50.9 percent had a genetic test. The test results could help guide treatment, as well as future efforts to prevent more cancer.

When asked why they didn't get tested, the majority of the 773 high-risk patients said it was because their doctor didn't recommend it to them. Just 13.7 percent of them said the test was too expensive, and 10.7 percent said they didn't want it. The researchers say this suggests a disconnect between oncologist and patient, whether it be assessing BRCA risk isn't on the physician's radar, or that they just don't find it important. The study surveyed 2,529 women overall.

"Those numbers were really striking to us," says Allison Kurian, an associate professor of medicine and health research/policy at Stanford University, breast cancer doctor, and lead author on the study, which was published Tuesday in JAMA, the journal of the American Medical Association. "This really emphasizes the importance of cancer doctors in this process, and that patients get evaluated and tested the way they should be."

Kurian notes that the study only got the patient side of the story, not the physician side, so it's unfair to assume the doctors are the sole cause of this disconnect. But by making genetic tests and counselors more available to patients at risk for BRCA, and making physicians more aware of the mutations' implications, the gap between the need for and accessibility of genetic testing in these high-risk patients will shrink, she says.

Hospitals need to make sure breast cancer patients are screened for BRCA if they need it, says C. Anthony "Tony" Blau, a professor of hematology at the University of Washington who specializes in breast cancer and was not involved with the study. The screening shouldn't be on the patient or the oncologist, he says, but rather "it should be part of the system. Hospital administrators don't typically do things that save patients' lives, but this could be one of those things."

Testing for the genes even when patients are already diagnosed with breast cancer and are at high risk for BRCA can be helpful, says Kurian. "Knowing a patient has BRCA1 or 2 affects how we treat the cancer she has," she says. "We might give her different medications or different surgery options."

That knowledge can also help physicians keep an eye out for ovarian cancer, which occurs 11 to 17 percent more often in women with BRCA mutations and is difficult to diagnose early. It also lets oncologists keep an eye out for new cancers and treat them more effectively. "Cancers sneak up on you," Kurian says. If a woman is flagged during BRCA screening due to her family history, "finding out she has a BRCA gene would let us start screening her as early as 25 years old. If we do find a really tiny cancer, she'll probably do a lot better and need less therapy in the long run."

And because the BRCA mutations have a 1-in-2 chance of being passed down from parent to child, a patient carrying BRCA1 or BRCA2 is likely to pass it down to further generations as well. In screening breast cancer patients for BRCA risk, "the implications aren't only for the patient presently affected by breast cancer," Blau says, "but for their families and generations of descendants. The potential impact is enormous, and missing the opportunity to test for it is a big deal."

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Jessica Boddy