BRCA Testing, Genetic Counseling Utilization in the Community Setting

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A recent study published in the Journal of the American Medical Association (JAMA) revealed how BRCA testing is conducted and whether genetic counseling followed professional guidelines.

A recent study published in the Journal of the American Medical Association (JAMA) revealed how BRCA testing is conducted and whether genetic counseling followed professional guidelines.1

The American BRCA Outcomes and Utilization of Testing (ABOUT) Study analyzed data from 11,159 women whose clinicians ordered BRCA testing for one year from 2011 to 2012. The insurance provider, Aetna, mailed recruitment information across the United States to health plan members whose clinicians had ordered BRCA testing. A total of 3,874 women (34.7%) completed questionnaires.

Approximately 16.4% (596) did not meet testing criteria. More follow-up may be necessary to determine why their clinicians recommended testing when it may not have been needed, causing worry and expense on the part of patients whose understanding of genetic testing may vary greatly.

BRCA mutations were identified in 161 (5.3%) of these women who received comprehensive testing. From the sample total of respondents, 1,334 (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. This data point may encourage OB/GYNs to partner with genetic counselors in the medical setting so that patients are more fully supported and informed regarding decision making once results come in.

The most commonly reported reason for not receiving this clinical service was lack of clinician recommendation. Those who received counseling 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).

The study revealed that there are, in the United States, very low rates of referral to genetic counselors for genetic counseling, which is a critical issue affecting outcomes. Referral patterns also vary widely across physician specialties. The lowest referral rates to genetic counselors were noted among patients of OB/GYNs, with high rates of tests ordered for unaffected individuals who do not meet criteria for testing based on national guidelines.

“The ABOUT Study offers a rare opportunity to study the self-reported experiences of women undergoing testing in the community setting where most people receive their care.  Although we found that most women did not receive genetic counseling by a genetics professional, this is a gap in services that can be addressed,” said principal investigator Rebecca Sutphen, MD, professor of genetics at the USF Health Morsani College of Medicine, who conducted the study with Aetna, the American Cancer Society, and the national nonprofit Facing Our Risk of Cancer Empowered (FORCE).2

Cross-education among oncology specialties may alleviate that in the future. Patients who reported receiving genetic counseling by a genetic counselor were more likely to meet criteria for testing and to demonstrate greater knowledge, understanding, and satisfaction.

 

 

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