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Most Women Get Breast Cancer Gene Testing Without Essential Counseling

Thanks to Angelina Jolie and other cultural forces, many American women are now aware of the BRCA test. But they're still unaware of the genetic counseling that should come with it.
BRCA1 tumor supressor protein RING domain, in complex with BARD1 protein. (Photo: petarg/Shutterstock)

BRCA1 tumor supressor protein RING domain, in complex with BARD1 protein. (Photo: petarg/Shutterstock)

By the time Nora Derenze took a test for the BRCA breast cancer genes—the same test that Angelina Jolie famously took and wrote about in the New York Times—she had already been diagnosed with cancer. Yet the test, which turned out positive for the "faulty" gene BRCA1, still set off a string of serious consequences.

"I had a very small tumor. Under other circumstances, it would have been a lumpectomy and radiation sort of situation," says Derenze, who was diagnosed in 2012. "But once the results came back with the BRCA gene, it was clear I had to have a double mastectomy because this was going to recur." She also had to have a hysterectomy. Her siblings and daughter were recommended for testing. Derenze, now 57, learned she had to return for yearly scans for the rest of her life. Through it all, she worked with two genetic counselors, who spent at least two hours with her, by her own estimate.*

What happened with Derenze is exactly what organizations like the United States Preventive Services Task Force recommend when doctors send their patients to get BRCA tests. Derenze had a proven personal and family history of breast cancer, which meant she was a good candidate for taking the test. Plus, she met with genetic counselors trained in interpreting results from genetic tests—and deciding whether it's worthwhile to take a genetic test in the first place.

"This study adds to data suggesting that pre-test consultation with a trained genetics professional has benefits for patients."

Yet, more often than not, things don't unfold that way. A new study, published today in the journal JAMA Oncology, finds that about two-thirds of privately insured American women whose doctors send them to get a BRCA test don't meet with a genetic counselor. That's concerning because those who do meet a trained genetic counselor seem to fare better. The same study found that women who take a BRCA test without genetic counseling first were less satisfied with their testing experience, and fared worse on an 11-question test about their understanding of the BRCA gene.

"I think the main takeaway is that this study adds to data suggesting that pre-test consultation with a trained genetics professional has benefits for patients," says lead author Rebecca Sutphen, a professor at the University of South Florida's medical school.

Sutphen's study examined data from more than 6,000 women whose doctors requested a BRCA test. The data came from the health-insurance company Aetna. Under the Affordable Care Act, companies such as Aetna must now cover genetic counseling with no out-of-pocket cost to the patient.

The researchers sent the women surveys, which is how they determined those who meet with genetic counselors are more satisfied and more knowledgeable about BRCA than women who don't. Sutphen and her team also used the Aetna data to figure out what factors made women who took BRCA tests more or less likely to meet with a genetic counselor. The most important factor, the researchers found: who referred them. Women referred by their obstetricians and gynecologists were the least likely to meet with a genetic counselor, while those referred by internal medicine specialists and oncologists were more likely to get counseling. These front-line doctors matter a lot: The most common reason women cited for not seeing a genetic counselor was that their doctor didn't recommend one. "There's no question that additional mechanisms for enhancing genetics and genomics knowledge among professionals is needed," Sutphen says.

Of course, another way to ensure women get genetic counseling before they consider a BRCA test is to make sure they ask for it, even if their doctors don't.

Over the last decade, Americans' awareness about breast cancer and the BRCA test have grown. In their study, Sutphen and her colleagues write that "aggressive marketing by testing laboratories" has led to more BRCA testing of people without breast cancer. About 100,000 Americans now get BRCA tests every year.

Yet Americans' awareness about genetic counseling doesn't seem to have risen apace. "So many factors have, over time, led to much more testing, and not much more counseling," Sutphen says. "We would like to ensure that more women know that they can talk to a genetic specialist."

Derenze certainly got a lot out of hers, at a time when she had to deal with some important choices. "I had really, really amazing counselors. They made it very easy to understand what they were telling me because it's a little overwhelming," she says. "Personally, I just felt like I was armed with more information than I would have ever known to ask for."

UPDATE — October 4, 2015: A previous version of this article mistakenly listed Nora Derenze's age as 67.