Most women who underwent BRCA genetic testing did not receive genetic counselling by trained genetics professionals and the lack of clinician recommendation was the most commonly reported reason in a study of commercially insured women, according to an article published online by JAMA Oncology.

Women with susceptibility to hereditary breast and ovarian cancer (HBOC) face high lifetime risks of 24 percent to 86 percent for breast cancer and 16 percent to 67 percent for ovarian cancer.

Professional guidelines delineate clinical criteria based on personal and family history and recommend, for women who meet the criteria, consultation with a professionally trained, board-certified genetics clinician for genetic counselling.

Rebecca Sutphen, M.D., of the University of South Florida Morsani College of Medicine, Tampa, and coauthors examined the factors associated with use of BRCA testing, assessed whether delivery of genetic counselling and testing services adheres to professional guidelines, and measured the impact on patient reported outcomes.

In collaboration with the commercial health insurer Aetna, the American BRCA Outcomes and Utilisation of Testing (ABOUT) study analysed data from 11,159 women whose clinicians ordered BRCA testing between December 2011 and December 2012.

Aetna mailed study packet questionnaires to women and 34.7 percent of them completed it. Aetna's commercial health plans cover genetic counselling services by a professional genetics clinician either in person or by telephone, according to the study background.

The majority of women (an estimated 53.3 percent) undergoing BRCA testing did not have a personal history of breast or ovarian cancer; an estimated 43.3 percent had a personal history of breast cancer; 2.9 percent had a personal history of ovarian cancer; and 0.5 percent had a personal history of breast and ovarian cancer.

Among 3,628 women whose physicians ordered comprehensive BRCA testing, most were white non-Hispanic (69 percent), college-educated (81.4 percent) and married (75.8 percent) with higher incomes (55.4 percent).

Of these women, authors report 16.4 percent (596) did not meet testing criteria. Mutations were identified in 161 (5.3 percent) women who had comprehensive testing. About 36.8 percent (1,334) of the 3,628 women reported receiving genetic counselling from a genetics professional, and the lowest rates (130[12.3 percent]) were among patients of obstetricians/gynaecologists.

The most common reason reported by women for not receiving this service was the lack of a clinician recommendation.

The women who did receive genetic counselling by a trained genetics professional displayed greater knowledge of BRCA and expressed greater understanding and satisfaction, according to the results.

Limitations to the study include that the authors were unable to directly obtain additional information from ordering providers about the potential underlying causes for the suboptimal genetic counselling referral patterns and relatively high rate of inappropriate test requests.

"These findings demonstrate important gaps in clinical genetic services. Recently mandated coverage of genetic counselling services as a preventive service without patient cost sharing should contribute to improving clinical genetics services and associated outcomes in the future," the study concludes.

Source: JAMA Oncology