If you’re considering genetic testing to see if you have an inherited risk for breast cancer, consulting first with a certified genetic counselor just might save your breasts.
Any physician can order a genetic test; but genetic counselors are specially trained to discuss whether it makes sense for you to be tested (it’s not right for everyone). After testing, a qualified genetic counselor can interpret your results, estimate your risk, and if appropriate, discuss risk management strategies.
A genetic counselor’s input can be particularly important involving variants of uncertain significance (VUS), changes that occur in a gene, but whether that change is harmful and interferes with the gene’s normal tumor-suppressing ability and therefore raises the risk of breast cancer, is unknown. Unlike a test result that shows a clear indication of a genetic mutation, a VUS doesn’t provide a clear answer about an individual’s risk.
A study published earlier this year by researchers at Stanford University School of Medicine, University of Southern California, Emory University and Memorial Sloan-Kettering Cancer Center underscores the important role of genetic counselors, particularly involving risk management strategies for VUS.
When researchers surveyed 2,500 newly diagnosed breast cancer patients and the surgeons who treated them, they discovered that many of the women had potentially unnecessary mastectomies, perhaps because they and their doctors didn't understand how to interpret genetic test results:
In breast cancer patients who have a BRCA mutation, bilateral mastectomy increases survival and reduces the risk of a second breast cancer. It does not, however, increase survival for women of average risk.
Clinical practice guidelines clearly state that variations of unspecified significance are mostly benign and should not be considered to confer high cancer risk. Patients with these variants should be considered at average risk for breast cancer and should be counseled similarly to patients whose genetic test is negative for a mutation. In other words, mastectomy is not recommended for these women. Yet this study shows that many patients don't understand the meaning of a VUS, while too many physicians mistakenly believe that a VUS means high cancer risk and they recommend mastectomy for VUS patients, just as they do for patients with mutations that are known to increase risk.
Genetic testing is a specialty; a specialty that is best provided by qualified genetic counselors.
Experts recommend always seeing a genetic counselor before and after testing.
If you’ve already been tested and notified that you have a VUS, consult with a genetic counselor, even (and especially) if a surgeon or other health care professional ordered the test (unless that professional is also certified as a genetic counselor). Even if your VUS results was given years ago, check with the laboratory that performed your test or a genetic counselor periodically to determine whether your VUS has been reclassified, which can occur as more information about a particular VUS becomes available. It may just save your breasts.
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