In a study appearing in the February 7 issue of JAMA, Allison W. Kurian, M.D., M.Sc., of the Stanford University School of Medicine, Stanford, Calif., and colleagues examined the use of genetic counseling and testing among patients with newly diagnosed breast cancer.
Testing of two breast cancer-associated genes, BRCA1 and BRCA2, has been available for 20 years but new technology and less restrictive patent laws have made certain tests available at much lower costs, yet little is known about recent patient experience with genetic testing and counseling. This study included women ages 20 through 79 years, diagnosed with stages 0 to II breast cancer, who were mailed surveys two months after surgical operation.
Survey questions addressed how much patients wanted genetic testing (not at all, a little bit, somewhat, quite a bit, very much); and whether patients talked about testing with any "doctor or other health professional," had a session with a genetic counseling expert, or had testing.
A total of 2,529 women (71 percent) responded to the survey. Among the findings: most patients (66 percent) reported wanting genetic testing and 29 percent reported having it. Yet only 40 percent of all high-risk women and 62 percent of tested high-risk women reported having a genetic counseling session. Only 53 percent of high-risk patients had a genetic test, "representing a missed opportunity to prevent ovarian and other cancer deaths among mutation carriers and their families," the authors write.
They add that clinical need for genetic testing may not be adequately recognized by physicians. High-risk patients reported lack of a physician's recommendation, not expense, as their primary reason for not testing.
High-risk patients most vulnerable to under-testing included Asians and older women, despite evidence that many such patients carry mutations.
"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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(doi:10.1001/jama.2016.16918; the study is available pre-embargo at the For the Media website)
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JAMA