Testing for mutations in BRCA1 and BRCA2 among ovarian cancer patients at a diverse academic medical center.
Authors: Taylor Caitlin , Mooney Ryan , Liu Yuan , Cao Yichun , Sakach Elizabeth , Tallo Christine R. , Meisel Jane Lowe 
Published: June 2021

10588

Background: Testing for mutations in BRCA1 and BRCA2 is recommended for all women with ovarian cancer (OC), given important implications for treatment and prognosis. Despite this recommendation, studies show that only a small percentage of OC patients (pts) undergo genetic testing (GT). In this study, we evaluated rates of genetics referral, counseling and testing among OC pts at an academic medical center. Our goal was to identify factors associated with lower rates of GT. Given the large Black population at our center, we specifically wanted to evaluate the association between race and GT given limited existing data on this issue. Methods: Retrospective chart review was performed evaluating rates of referral and uptake for GT, and percentages of BRCA mutation carriers among pts with OC diagnosed and treated at Emory’s Winship Cancer Institute between 2008 and 2018. Associations between age, race, histology, family history (FH), performance status, provider characteristics and genetics referral and testing were evaluated using logistic regression models. Results: Of the 171 pts who met inclusion criteria, the majority were age 55 or older (62%) with high grade serous carcinoma (60.8%). Pts were predominantly Caucasian (59.4%), followed by Black (29.1%), Asian (10.3%) and Hispanic (1.2%). Overall, GT rates were low with 44.7% of pts referred for genetic counseling and 39.8% receiving testing. Among pts who did receive GT, the percentage of deleterious BRCA1 and BRCA2 mutations identified was 11% and 8.8% respectively. Variables correlating with higher likelihood of genetics discussion, referral and testing included serous histology (50% vs 23.9% non-serous, p < 0.001), Caucasian or Asian race (87.5% Asian, 58.8% Caucasian vs 42.2% Black, p = 0.003) and seeing a medical oncologist (67.5% vs 44.7% seeing gynecologic oncologist alone, p = 0.004). Notably, while fewer Black women were referred for GT (25.9% vs 74.1% Caucasian), those that did undergo GT were found to have higher rates of BRCA1 and BRCA2 mutations when compared to Caucasian pts (22.2% vs 8.2% BRCA1; 11.1% vs 6.0% BRCA2). Pts with a FH of OC were more likely to undergo GT (69.2% vs 37.9%, p = 0.027), and pts with a FH of breast cancer were more likely be referred for testing (57.1% vs 39.6%, p = 0.042), suggesting that FH impacted referral patterns. Conclusions: The rates of GT among OC pts at our institution were lower than expected despite the broad recommendation for GT in this population. It is imperative to improve access to GT for all OC pts regardless of FH, and in particular among Black pts given the higher rates of BRCA mutations in this population. Pts and providers must work together to overcome barriers to genetics referral and testing in order to improve GT rates and clinical outcomes. Further research is needed to design interventions that may help improve adherence to this important recommendation in the future.