Healthcare disparities and the demand for expanding hereditary breast cancer screening guidelines in African Americans.

Abstract

e13636 Background: The role of predictive genetic testing on cancer care continues to rise in the healthcare community due to increased development, high demand and utilization of multi-panel testing and genome sequencing. BRCA1 and BRCA2 (BRCA1/2) mutations constitute some of the most common, targetable and clinically important markers in breast cancer. Individuals who harbor BRCA1/2 mutation have a substantially increased risk of developing a multitude of cancers, including breast and ovarian cancer. Early detection of these mutations leads to genetic and prevention counselling. The National Comprehensive Cancer Network (NCCN) guidelines recommend BRCA1/2 screening in high risk individuals however has not incorporated differences within ethnic cohorts. Methods: This study reviewed data collected from a genetics clinic in a tertiary community hospital from 2008 to 2018 to analyze the prevalence of BRCA1/2 mutations in various ethnicities as well as identify high risk personal characteristics and family history. A retrospective chart analysis was conducted on 1090 high risk patients seen for genetic counselling for hereditary breast and ovarian cancer syndrome. Results: Among cases, BRCA1/2 mutations were significantly more common in African American when compared to non-Ashkenazi Jewish Caucasians (8.1% vs 3.6%, p = 0.020). African Americans were more likely to have a personal history of any cancer compared to non-Ashkenazi Jewish Caucasians (90.4% vs 84.5 %, p = 0.048). African Americans were also more likely to have personal history of breast cancer compared to non-Ashkenazi Jewish Caucasians (86.4% vs 79.6%, p = 0.048). Regarding family history, there was no significant difference in the prevalence of cancer. Conclusions: In conclusion, we observed a significantly higher rate of BRCA1/2 in the African American population when compared to non-Ashkenazi Jewish Caucasians. Given the documented social barriers such as insurance and lack of knowledge of family history, the prevalence of BRCA1/2 might be underrepresented in literature. It is critical for healthcare providers to assess probability of BRCA1/2 mutations in the African American population and consequently order genetic testing when appropriate. Future studies are needed in this ethnic cohort to establish if a more tailored approach would help identify higher risk individuals.