By Lori Solomon, Editor, Diagnostic Testing & Emerging Technologies
Most U.S. women undergoing BRCA genetic testing do not receive recommended genetic counseling, according to a study published Oct. 1 in JAMA Oncology. The finding of wide variability in referral patterns and resulting differences in patient satisfaction hold important implications given the anticipated growth in BRCA testing.
It is estimated that more than 100,000 Americans annually undergo BRCA testing. Professional guidelines, including from the U.S. Preventive Services Task Force and the National Comprehensive Cancer Network, use personal and family history to identify women at highest risk of hereditary ovarian and breast cancer to guide testing. Unlike other studies assessing BRCA testing referrals and associated utilization of genetic counseling, this large study is the first to analyze community-setting data among commercially insured women to evaluate adherence to these guidelines.
Researchers participating in the American BRCA Outcomes and Utilization of Testing (ABOUT) study analyzed data from a consecutive national sample of more than 11,000 women whose clinicians ordered BRCA testing between December 2011 and December 2012. Aetna mailed recruitment information to these commercial health plan members. Analysis was conducted on the 3,874 women completing the questionnaires as well as a random sample of 2,613 nonrespondents.
The researchers found that approximately 16.4 percent of women whose clinicians ordered comprehensive BRCA testing did not meet evidenced-based testing criteria. Excluding those women who were tested for a known mutation in their family, the positive mutation rate was 5.3 percent.
Just over one-third of women tested (36.8 percent) reported receiving genetic counseling from a genetics clinician prior to testing. The lowest rate of counseling (12.3 percent) was seen among patients referred for testing by obstetrician/gynecologists. Individuals who reported receiving pretest genetic counseling were more than twice as likely to meet guideline-based testing criteria. The most common reason reported for not receiving counseling was lack of a clinician recommendation. Racial and ethnic disparities in access to genetic counseling were seen with a greater percent of white, non-Hispanic women receiving counseling, compared with black and Hispanic women. Women who received pre-test counseling showed significantly greater knowledge about BRCA and satisfaction with testing.
“In contrast to previous reports from academic medical center settings, most individuals did not receive pretest genetic counseling from a genetic clinician,” write the authors led by Joanne Armstrong, M.D. “This low rate of pretest genetic counseling is particularly surprising given clear professional society guidelines and published research that consistently document its importance in informed decision making and facilitating better patient outcomes.”
However, clinicians critical of the study suggest that given the rapid evolution in molecular testing and moves towards more comprehensive panels, it is unrealistic to believe universal, one-on-one pretest counseling is feasible, especially if testing criteria is expanded to identify as many mutational carriers as possible.
The Aetna Foundation funded the study and Aetna provided in-kind support.