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Breast Cancer Diagnosis? How to Get Needed DNA Testing

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In a new study that’s likely to shake up breast cancer treatment, researchers at University of Michigan surveyed 5,000 women who had undergone surgery for breast cancer as well as 377 breast cancer surgeons and found that almost half the patients who should have received genetic testing before surgery to help determine the best treatment did not get it.

As a result, neither these women nor their surgeons had all the information they could have had to know whether a lumpectomy, mastectomy or double mastectomy would be the most beneficial type of surgery to have for their cancer.

Genetic testing can be a game changer for breast cancer treatment. As an example, most women who test positive for either the BRCA1 or BRCA2 genetic mutation choose a double mastectomy because that particular surgery significantly reduces the likelihood that the cancer will recur. (Note: The BRCA1 and BRCA2 mutations are highly linked to risk for both breast cancer and ovarian cancer.) Women who don’t have these gene mutations might choose a breast-sparing lumpectomy. Meanwhile, new types of tests that look for a wider set of gene mutations with ramifications for choosing the best treatments are becoming more available—but if surgeons aren’t even looking to the older, well-established tests for guidance, they may not put these newer tests to use for women’s benefit, either!

It’s hard to understand why, with the kind of advantage that genetic testing offers, so many breast cancer surgeons are unlikely to order it. The surgeons who responded to the survey were not amateurs. They are highly trained specialists with, on average, 20 years of experience under their belts. But the researchers think their reluctance to order genetic testing before breast cancer surgery is likely due to two factors…

  • The care team for a woman diagnosed with breast cancer typically includes a surgeon, a genetic counselor and a medical oncologist, but the order in which a patient sees them can vary. If a patient sees a breast cancer surgeon first, this surgeon might or might not discuss getting genetic testing before doing surgery—surgeons are good at ordering pathology and imaging tests, but genetic tests are a newer area with which they may not be entirely comfortable.
  • An appointment delay could keep a patient from seeing a genetic counselor. When genetic testing for breast cancer first became available, it was packaged with extensive counseling by trained genetic counselors who could help women through the experience. Now, however, genetic counselors are in high demand for a wider variety of conditions, and it often takes a long wait to see one. Many surgeons may recommend that you don’t put off surgery to wait for genetic testing.
  • There’s no mandate in the medical profession, nor even a universally accepted official guideline, that a breast cancer patient has to have genetic testing. (Although there are recommendations for when women at high risk should consider gene testing.) The “standard of care” used to be mastectomy for all. That’s changed thanks to genetic testing, but, the study points out, some surgeons haven’t adapted.

So how can you make sure that you get genetic testing before breast cancer surgery? Here are the two steps you must take…

Have your primary care physician or ob-gyn step up to the plate. Ask him/her to refer you to surgeons who are most familiar with genetic testing before surgery. Your doctor may have to do some legwork and ask around. But that could be a good thing not only for you but for other patients—because it will likely encourage discussions among primary-care physicians and surgeons and get them to think more deeply about the proper role of genetic testing in treatment (something University of Michigan is already promoting).

Specifically tell your surgeon to order the genetic test. After the test results are in, if it’s not possible for you to see a genetic counselor in a timely manner, you and your surgeon can discuss the test results, and he can go over their meaning and the surgical options with you. That doesn’t negate the role of counseling—you can still meet with a counselor anytime one is available to discuss future ramifications of the test results for you and other family members (including, possibly, your children) who may have inherited the same mutations. Once that’s done, both you and any relatives with the gene mutation can be referred to a medical oncologist, a specialist who will watch over all of you and guide your care in the years to come.

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Source: Steven J. Katz, MD, professor of medicine, health management and policy, University of Michigan, Ann Arbor, and lead author of the study “Association of Attending Surgeon with Variation in the Receipt of Genetic Testing After Diagnosis of Breast Cancer,” published in JAMA Surgery. Date: November 16, 2018 Publication: Bottom Line Health
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