Many Breast Cancer Patients Not Referred for Genetic Testing; Genetic Counseling Needed

Physicians often fail to recommend genetic testing for breast cancer patients at high risk for mutations, according to a research letter published Feb. 7 in the Journal of the American Medical Association. The findings, the authors say, indicate both the need to improve physicians' assessments of patients' risk and need for genetic testing, as well as the need to expand the availability of genetic counseling.

"The fact that many women are not offered genetic testing after a diagnosis of breast cancer is an important illustration of the challenges of driving advances in precision medicine into the exam room," says co-senior author Steven Katz, M.D., from University of Michigan, in a statement.

Women (aged 20 to 79 years) diagnosed with breast cancer (stages 0 to II) between July 2013 and September 2014 were identified using the Surveillance Epidemiology and End Results registries of Georgia and Los Angeles County. Identified women were mailed surveys two months after surgery. Questions assessed patients' desire for genetic testing (not at all, a little bit, somewhat, quite a bit, very much), whether patients talked about testing with any "doctor or other health professional," had a session with a genetic counseling expert, or completed testing. Cancer family history, ancestry, and clinical information were also assessed to gauge a guideline-concordant measure of high pretest risk for mutations.

Based on the 2,529 women (mean age 62 years; 56.8 percent white) who responded to the survey, overall, 66 percent reported wanting testing, but only 29.0 percent reported having a test. Asian-Americans and older women were more likely to be undertested, but in this population education, income, and insurance status did not affect testing rates.

Among average-risk patients, 59.3 percent wanted testing, 35.9 percent reported talking about testing with a doctor or other health professional, and 17.8 percent had a test. Nearly onethird of women (31 percent) had a high pretest mutation risk. Among high-risk patients, 80.9 percent wanted testing, 70.9 percent talked about testing with a doctor or other health professional, 39.6 percent had a session with a genetic counseling expert, and 52.9 percent had testing. Among tested, high-risk patients, more (61.7 percent) reported having a genetic counseling session.

The 47 percent of high-risk patients not having a genetic test represents a "missed opportunity," the authors say, to prevent other cancers in mutation carriers and their families. The most common reasons high-risk patients reported for not testing were "my doctor didn't recommend it" (56.1 percent), "too expensive" (13.7 percent), and "I did not want it" (10.7 percent).

"It is likely that some doctors don't realize the benefit that genetic testing provides," says co-senior author Allison Kurian, M.D., from the Stanford Cancer Institute. "They may also lack the ability to explain the testing process and results clearly with patients. Priorities for the future should include strategies to expand the genetic counselor workforce and interventions to improve physicians' skills in communication and cancer risk assessment."

Takeaway: Rates of genetic testing among women diagnosed with breast cancer remain low, despite their self-reported desire for testing. Given this gap, there is a need for increased education of physicians regarding risk assessment and the need for genetic testing, combined with expanded triage to genetic counselors.