Most US women undergoing BRCA genetic testing do not receive genetic counseling despite multiple guidelines emphasizing the importance of this clinical service, a new study published online in JAMA Oncology has shown.1
Because little Is known about the real-world experiences of the more than 100,000 Americans undergoing BRCA genetic testing annually, researchers sought to identify factors associated with use of BRCA testing, evaluate whether delivery of genetic testing and counseling services adheres to professional guidelines, and assess the impact on patient-reported outcomes.
For the ABOUT study, researchers analyzed data from 11,159 women whose clinicians prescribed BRCA genetic testing between December 2011 and December 2012. A total of 3,874 women completed questionnaires about their experience.
Results showed that among 3,628 female respondents who clinicians ordered comprehensive BRCA testing, the majority were white non-Hispanic, college educated, married, and had higher incomes.
Researchers found that approximately 16.4% of patients did not meet testing criteria and mutations were only identified in 5.3% of women who underwent comprehensive testing.
The study also demonstrated that only 36.8% reported receiving genetic counseling from a genetics clinician prior to testing, with the main reason for not receiving this clinical service being lack of clinician recommendation.
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Women who received it demonstrated greater knowledge about BRCA and expressed greater understanding and satisfaction with genetic testing.
“These findings demonstrate important gaps in clinical genetics services. Recently mandated coverage of genetic counseling services as a preventive service without patient cost sharing should contribute to improving clinical genetics services and associated outcomes in the future,” the authors concluded.
- Armstrong J, Toscano M, Kotchko N, et al. Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: the ABOUT study [published online ahead of print on October 1, 2015]. JAMA Oncol. doi: 10.1001/jamaoncol.2015.3048.