Women with breast cancer at high mutation risk report barriers to genetic testing in recent survey
That only slightly more than half of high-risk patients were tested shows a missed opportunity to prevent ovarian and other cancer deaths, the study authors wrote.
Many high-risk women diagnosed with breast cancer want genetic testing, but several barriers may stand in the way, according to a recent population-based study.
The study included women ages 20 through 79 who were diagnosed with stages 0 to II breast cancer between July 2013 and September 2014, surveyed two months after they had surgery. Participants, who were from Los Angeles County and the state of Georgia, were asked how much they wanted genetic testing, if they had testing, whether they had discussed testing with a clinician, and whether they had spoken with a genetic counseling expert. Results were published online in a research letter on Feb. 7 by JAMA.
Of 2,529 respondents (mean age, 62 years), 66% (95% CI, 64.2% to 68.2%) reported wanting testing, and 29% (95% CI, 27.1% to 30.9%) reported having a test. A total of 773 patients (31%; 95% CI, 29.2% to 33.1%) had a high pretest mutation risk. Among high-risk patients, 80.9% (95% CI, 78.0% to 83.9%) wanted testing, 52.9% (95% CI, 49.1% to 56.6%) had testing, 70.9% (95% CI, 67.5% to 74.3%) discussed testing with a clinician, and 39.6% (95% CI, 35.9% to 43.3%) spoke with a genetic counseling expert.
Of the average-risk patients, 59.3% (95% CI, 56.8% to 61.8%) wanted testing, 17.8% (95% CI, 16.0% to 19.9%) had testing, 35.9% (95% CI, 33.4% to 38.3%) discussed testing with a clinician, and 14.4% (95% CI, 12.6% to 16.2%) spoke with a genetic counseling expert.
Of high-risk patients who were tested, 61.7% (95% CI, 56.6% to 66.7%) had an expert genetic counseling session. The primary reason high-risk patients did not undergo testing was “my doctor didn't recommend it” (56.1%), followed by “too expensive” (13.7%), “I did not want it” (10.7%), and “my family didn't want me to get it” (0.2%).
Characteristics that were associated with no testing included older age and Asian ethnicity, but not education, income, or insurance, a multivariable analysis found.
That only slightly more than half of high-risk patients were tested shows “a missed opportunity to prevent ovarian and other cancer deaths among mutation carriers and their families,” the study authors wrote. They noted that lack of a physician's recommendation was the main reason for not testing among high-risk patients, which may mean that many physicians do not adequately recognize the clinical need for genetic testing. Limitations of the study include the fact that patient data were self-reported and that respondents lived in only two geographic regions.