Many breast cancer patients who want genetic testing never receive it, study finds

While most patients with newly diagnosed breast cancer want genetic counseling, less than half of all high-risk women receive it, according to a study published in the Journal of the American Medical Association.

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The study surveyed women aged 20 through 79 years, diagnosed with stages 0 to 2 breast cancer between July 2013 and September 2014. A total of 2,529 women responded to the survey. Survey participants were asked how much they wanted genetic testing, whether they talked about testing with a provider, had a session with a genetic counseling expert, or received testing.

The study found 66 percent of survey respondents wanted testing and 29 percent had a test. Among patients with an average risk of mutations in the BRCA1 and BRCA2 genes, 59.3 percent wanted testing, 35.9 percent reported talking about testing with a physician or other health professional, and 17.8 percent had testing.

Among high-risk patients, 80.9 percent wanted testing, 70.9 percent talked about testing with a physician or other health professional, 39.6 percent had a session with a genetic counseling expert, and 52.9 percent had testing, researchers said. Of tested high-risk patients, 61.7 percent had an expert genetic counseling session. Researchers said the most common reason high-risk patients reported for not testing was "my doctor didn't recommend it" (56.1 percent), "too expensive" (13.7 percent), "I did not want it" (10.7 percent), and "my family didn’t want me to get it" (0.2 percent).

"Clinical need for genetic testing may not be adequately recognized by physicians," wrote the study's authors. "The findings emphasize the importance of cancer physicians in the genetic testing process. Priorities include improving physicians' communication skills and assessments of patients' risk and desire for testing, and optimizing triage to genetic counselors."

 

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