Healthcare Disparities and the Demand for Expanding Hereditary Breast Cancer Screening Guidelines in African Americans

Abstract Genomic medicine has led to significant advancements in the prevention and treatment of cancer. The high demand and utilization of multi-panel gene testing and genomic sequencing has uncovered a new understanding of hereditary cancer syndromes and the impact on population health. 14 , 15 BRCA1 and BRCA2 (BRCA1/2) pathogenic mutations constitute some of the most common, highly penetrant and clinically actionable genes associated with hereditary breast cancer syndromes. 25 Individuals who harbor a pathogenetic BRCA1/2 mutation have a significantly increased risk of developing a multitude of malignancies, including breast and ovarian cancer. Early detection of these mutations leads to changes in management of patient care. The National Comprehensive Cancer Network (NCCN) guidelines recommend BRCA1/2 screening in high risk individuals however it has not incorporated differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity. 28 It is critical to decrease healthcare disparities and expand genetic testing to aid in the identification of high-risk patient populations and improve outcomes. This study reviewed data collected by a Michigan Medical Genetic Clinic in a community-based hospital from 2008 to 2018. We analyzed 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 patients seen for genetic counselling to evaluate for hereditary cancer syndromes. This review displayed a statistically significant higher rate of pathogenic BRCA1/2 mutation prevalence in African American patients 8.1% compared to Non-Ashkenazi Jewish Caucasians 3.6% (p=0.02). It also displays African Americans as having a mutational prevalence nearing that of the Ashkenazi Jewish population. These results suggest that updates in the NCCN guidelines regarding hereditary cancer syndrome testing in various ethnic groups are imperative and overdue. Future studies are needed to identify healthcare disparities and socioeconomic barriers in genetic testing.