Why aren’t women receiving appropriate genetic counseling?


A report in the Journal of the American Medical Association (JAMA) shows that too few women with recently diagnosed breast cancer and at high risk of a BRCA genetic mutation received appropriate genetic counseling. And that testing for the mutation is a missed opportunity not only to improve treatment for these patients but also to prevent some breast, ovarian and other cancers in the first place.

This study makes the difficult point that when it comes to routine screening for genetic abnormalities in women (and men, for that matter) who may be at increased risk, we simply aren’t doing the job. The situation may well be worse than this report suggests, especially considering that in some areas of the country Medicare doesn’t even cover preventive testing for the BRCA mutation. And this is more than 20 years after the test was first discovered and placed into clinical practice.

I guess sometimes it takes a long time for the way we care for our patients to catch up with the science that we know works. But twenty years!? Uh, that seems like a long, long time.

First, the report:

The researchers looked at women who were diagnosed with breast cancer in Georgia and California from July 2013 to September 2014. Surveys were sent to these women two months after their surgery. These were women who had non-invasive DCIS up to Stage II breast cancer based on the size and presence of cancer in the lymph nodes. Generally, these women have a good prognosis.

The questions the researchers asked included whether the women wanted BRCA testing and if they had spoken with a doctor or other health professional about getting tested, if they had spoken with a genetic counselor and if they had in fact been tested. The researchers also looked at whether there was information in a woman’s family history, ancestry and clinical information to suggest that the woman, in fact, should be considered for BRCA testing.

2529 women responded to the survey, from a number of ethnic groups. Seven in 10 women had some college education, which certainly indicates this was a group that was more educated. Among the women in the study, 773 had a high risk of having the mutation. Of those, about seven in 10 had talked with a health professional about testing, four in 10 had a session with a genetic counselor, and a little over half had a test.

For the women at high risk of having BRCA mutation and who were not tested, the most common reason was that the health professional had not recommended getting the test. Fourteen percent of the women who did not get tested said it was too expensive and 11% just didn’t want it.

So what does all this mean?

First, we have to remember that this study looked at women who had already been diagnosed and treated for DCIS or breast cancer. You would think that would get them and their health professionals to focus on relevant information, like their family risk and the possible need for genetic testing. Yet 30% of those women never had the conversation about their risk. Half of the women at high risk never even had the test, even though it would help them know whether they were at high risk not only for breast cancer but for other cancers as well, particularly ovarian cancer. And without information about their own risk, they couldn’t alert their daughters, their mothers, their sisters, their aunts, their cousins or even the male members of the family that they too may need to be alert to the possibility that they could have a BRCA genetic abnormality and could be at a high risk of getting cancer during their lifetimes.

There is another important wrinkle to this unfortunate story: The implication, although not stated, is that the women in this study were never tested before their breast cancer diagnosis, even though they were at high risk. But not to worry about that, since as mentioned above in some states women on Medicare may not have access to the test before they get the cancer.

You see, the folks who oversee payment for Medicare services here in Georgia have declined to cover the BRCA test unless a woman has already been diagnosed with breast and/or ovarian cancer and has an appropriate family history. So in this study where women were already diagnosed with breast cancer, they would have coverage. But if they wanted to prevent breast and/or ovarian cancer, they would be plain out of luck when it comes to Medicare paying for the test.

That’s right: if a woman walks into a doctor’s office in Georgia and adjoining states and has Medicare and has a family history that suggests she may have a BRCA mutation. And she wants to know what she can do to reduce her risk of breast and ovarian cancer, the government won’t pay for the test until she gets the disease. Now, in this era of prevention, that doesn’t make a lot of sense, does it?

(I recently participated in a conference call representing a Georgia medical professional society where this decision was made on the basis that Medicare covers treatment of illness, not prevention services. Medicare does cover some screening tests, but those have either been legislated by Congress or approved by the Centers for Medicare and Medicaid Services. BRCA testing is not on the list. So whether you get coverage can depend on where you live. Makes sense, doesn’t it? Nope.)

I could go on, but I suspect you get the point: We aren’t doing what we need to do to find women and men at risk of BRCA genetic abnormalities let alone others that are less common but no less important, such as Lynch syndrome.

The irony is, even with all the attention given to the promise of genetic testing, it’s not happening as routinely as it should, especially given our increasing attention to quality medical care and the use of health information technology to improve the care doctors offer and consumers receive.

There is something you can do. You as a consumer and a patient should know about your family. And if you have concerns, you should discuss those with a health professional. And if it appears you are at increased risk, you should be counseled on your options so you can make an informed choice whether or not you want to be tested or in fact need to be tested.

After twenty years, it’s about time we all stepped up to the plate about getting the BRCA test into the mainstream of medical care. After all, the life you save may be your own.

J. Leonard Lichtenfeld is deputy chief medical officer, American Cancer Society. He blogs at Dr. Len’s Cancer Blog.

Image credit: Shutterstock.com 


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