Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population: The
Joanne Armstrong1, Michele Toscano1, Nancy Kotchko1
1Aetna, Hartford, Connecticut.
Importance:
BRCA genetic testing has substantial public health impact, yet little is known of the real-world experiences of the more than 100 000 Americans undergoing testing annually.
Objective:
To identify factors associated with use of BRCA testing, assess whether delivery of genetic counseling and testing services adheres to professional guidelines, and measure the impact on patient-reported outcomes.
Design, Setting, And Participants:
The American BRCA Outcomes and Utilization of Testing (ABOUT) Study analyzed data from a consecutive national series of 11 159 women whose clinicians ordered BRCA testing between December 2011 and December 2012. Aetna mailed recruitment information across the United States to commercial health plan members whose clinicians had ordered BRCA testing. A total of 3874 women (34.7%) completed questionnaires. Deidentified clinician-reported data from all respondents and a random sample of 2613 nonrespondents were also analyzed.
Main Outcomes And Measures:
The proportion of eligible participants who met testing criteria and respondents' report of receiving genetic counseling by a genetics clinician and its association with BRCA knowledge, understanding, and satisfaction were assessed.
Results:
Among 3628 women respondents whose clinicians ordered comprehensive BRCA testing, most were white non-Hispanic (2502 [69.0%]), college educated (2953 [81.4%]), married (2751 [75.8%]), and had higher incomes (2011 [55.4%]). Approximately 16.4% (596) did not meet testing criteria. Mutations were identified in 161 (5.3%) of these women who received comprehensive testing. Only 1334 (36.8%) reported receiving genetic counseling from a genetics clinician prior to testing; the lowest rates (130 [12.3%]) were among patients of obstetrician/gynecologists. The most commonly reported reason for not receiving this clinical service was lack of clinician recommendation. Those who received it demonstrated greater knowledge about BRCA (mean score difference adjusted for demographics and clinician specialty, β = 0.99 [95% CI, 0.83-1.14]; P < .001) and expressed greater understanding (β = 0.47 [95% CI, 0.41-0.54]; P < .001) and satisfaction (β = 2.21 [95% CI, 1.60-2.81]; P < .001).
Conclusions And Relevance:
Despite improved patient knowledge, understanding, and satisfaction among patients who receive genetic counseling provided by a genetics clinician, as well as multiple guidelines emphasizing the importance of genetic counseling, most US women undergoing BRCA genetic testing do not receive this clinical service. Lack of physician recommendation is the most commonly reported reason. 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.
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