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Researchers Find Many Centers Don't Refer Women with Family Breast Cancer History to Genetic Counseling

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This article has been updated to clarify the organizations involved in the study.

Researchers led by The Metropolitan Chicago Breast Cancer Task Force have found that many breast care centers that collect information about family history of breast cancer are not referring women with suggestive history to genetic counseling and testing, as recommended by the US Preventive Services Task Force.

Julia Trosman and Christine Weldon of Chicago's Center for Business Models in Healthcare conducted the study investigations as part of a larger effort funded by the Susan G. Komen for the Cure Foundation. The researchers presented results from the study of providers at 26 Chicago institutions in a poster at the annual meeting of the American Society of Clinical Oncology earlier this month.

Weldon told PGx Reporter this week that the study was prompted after hearing concerns from medical and radiation oncologists at one of the academic centers the Metro Chicago Task Force works with. In particular, doctors at the centers said they were too often seeing patients — some already halfway through their treatment — with a strong family history of breast cancer who had never received information about genetic risk or genetic counseling.

The USPSTF recommended in its 2005 guidelines that if women have a family history that places them at increased risk for having BRCA 1 or BRCA 2 mutations, then doctors should refer them for genetic counseling and evaluation for BRCA testing.

"The USPSTF has recommendations, as does the National Comprehensive Cancer Network," Weldon said. "But it's just not clear whose responsibility it is, or whose role it is to bring this up."

If too many women are getting all the way into breast cancer therapy without ever discussing genetic testing, Weldon said, better guidelines may be needed for how and when in the breast care continuum to propose or refer genetic counseling both for already diagnosed women, and for asymptomatic women, for whom early knowledge of increase genetic risk could help inform preventative and prophylactic decision making.

"There are all these opportunities to improve chances of being caught earlier or even preventing, [but] it's not being brought up," Weldon said.

According to Weldon, within the breast screening centers that the group surveyed, technicians and other professionals routinely and repeatedly ask about family history though a patient's continuum of care.

However, the study found that 90 percent of these providers not only were not referring patients with suggestive family history to genetic counseling, but also didn't see a role for themselves in the process.

"Everyone expects primary care physicians to do it," she said. "But they may not have easy access to genetic counselors, or may not have time to go through the process."

In the study, the researchers surveyed 130 providers from 26 centers and found that only one of the 26 had a protocol for referring appropriate patients to genetic counseling.

About 40 percent of the interviewees worked at centers where genetic counseling services were available in house or through an established relationship, but only 12 percent viewed making patients aware of those services as their responsibility, the researchers reported in their poster.

"With the exception of this one group, which was involved in a study that caused them to put a protocol in place, no one had a clear expectation that they would be responsible to tell patients about genetic counseling or testing," Weldon said.

"And none of the interviewees viewed talking about genetic counseling services as their responsibility," she said. "If a patient specifically asked about it, they would talk about it. But they wouldn’t bring it up on their own."

The USPSTF is currently in the process of updating its recommendations on BRCA mutation testing for breast and ovarian cancer. As part of this effort, it has been gathering data on how accurate physicians' risk assessment methods are for selecting which patients should receive BRCA mutation testing; what the benefits are of genetic counseling patients ahead of testing; and what the adverse effects of testing and counseling are. (PGX Reporter 3/7/2012)

Myriad, which markets the BRACAanalysis test, has come under criticism for encouraging doctors to counsel patients before testing instead of referring them to outside genetics experts, though the company has argued that this practice could help remedy the shortage of cancer genetics professionals in lower resource areas (PGx Reporter 02/10/2010).

The company has also said it plans to submit comments to the USPSTF evidence evaluation proposal for BRCA testing.

Weldon said that the Metro Chicago Task Force has found that physicians do discuss genetics with patients — though usually only when patients bring it up themselves — and many use Myriad materials when doing so.

"I'm not sure what Myriad's goals are there, but I sense that there are a lot of places along the breast care continuum where there could possibly be a quick assessment done," Weldon said.

For example, she said, many centers the group surveyed have access to tools like the Hughes BRCAPro risk-assessment tool. But BRCAPro takes about 20 minutes. "As a basic screening tool that's a little more laborious than most sites can handle."

"What we were also told by a lot of physicians is that if they do have genetic counseling access at their site, which several did, that the guidelines they are given by those groups are so broad that half of patients would fit into it," she added. "So they don't want to do that either because they think it's just too broad."

Weldon said she and her colleagues are now planning a study to test an eight-question screening tool that could be used as a way to prescreen patients who could then go on to more comprehensive screening with something like BRCAPro or other screening tools.

"It wouldn't necessarily be a physician who did this," Weldon explained. "My opinion is that if mammography technicians are collecting family history every time they do a screening or diagnosis — if we're already asking family history — why don’t we ask it just a little differently in order to get the right information for a quick assessment?

"At least we could try it out," she said. "It's not going to catch everybody, but it's better than not catching anybody."

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