Wrong women often referred for BRCA genetic testing

Physicians refer many women at average risk of ovarian cancer for genetic counseling or testing for the BRCA 1 and 2 genes while neglecting to refer many high-risk women, researchers reported in the July 25 online edition of Cancer.

Their vignette-based study surveyed 3,200 US family physicians, general internists, and obstetrician/gynecologists, of whom 1,878 (62%) responded. The survey included vignettes about 3 patients: 1 at average risk, 1 at medium risk, and 1 at high risk for ovarian cancer. For average-risk women, 29% of physicians reported that they didn’t adhere to recommendations against genetic counseling; only 41% of physicians reported referring high-risk women for counseling and testing, as recommended.

The authors note that the low rate of referral for genetic testing and counseling for high-risk women is “concerning, given the availability of evidence-based interventions to decrease breast and ovarian cancer risk” in these women. At the same time, they write, the number of physicians referring average-risk women for counseling and testing “is an inefficient use of resources, and is associated with, at most, a small clinical benefit.”

Although physicians who assessed risk more accurately were more likely to follow referral recommendations, 22% of doctors who correctly identified women at average risk nevertheless referred these women for counseling and testing, the researchers found. Average-risk women who were white, privately insured, and lived in an urban area were more likely to be referred than black women on Medicaid who lived in a rural area.

Predictors of referral for high-risk women included younger patient age (35 vs 51 years), sex of the physician (female vs male), and physician specialty (ob/gyn vs family medicine). The doctor’s estimate of ovarian cancer risk was the strongest predictor of adherence to referral recommendations for both average- and high-risk women. The researchers conclude that “efforts are needed to encourage appropriate counseling and genetic testing for women at high risk of hereditary breast and ovarian cancer, particularly among male physicians, family physicians, and general internists,” and to simultaneously discourage testing among women at average risk.

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