Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population

Genetic information directs clinical management and leads to improved health outcomes. However, there are scant data regarding the role of race or social determinants of health (SDOH) on access to genetics evaluation or outcomes of genetic testing in the general adult population. Here, we present the results of a retrospective study of 14,669 individuals seen over a 5-year period within the University of Pennsylvania and the Mass General Brigham Health Systems' Adult Genetics Clinics. We assessed the effects of electronic health record-reported race and neighborhood-level measures of SDOH on likelihood of evaluation in an Adult Genetics Clinic, likelihood of having genetic testing sent, and outcomes of genetic testing. Black individuals (odds ratio [OR] < 0.65; p < 2e-16) and those from disadvantaged neighborhoods (OR < 0.99; p < 0.0001) were significantly less likely to be evaluated in an Adult Genetics Clinic, with Black individuals significantly less likely to be evaluated for clinical indications with more subjective presentations (OR < 0.33; p < 0.003). When evaluated, Black individuals were more likely to undergo genetic testing (OR = 1.35; p = 0.005), and individuals from disadvantaged neighborhoods, independent of race, were more likely to have pathogenic variants identified on genetic testing (OR > 1.01; p < 0.002). These findings highlight significant disparities in genetic healthcare delivery among adult individuals based on race and social determinants of health-disparities that are poised to widen unless proactively addressed as genetic testing becomes increasingly central to the practice of clinical medicine. We provide resources and information for providers and affected individuals to reduce barriers to medical genetics care and promote equity in precision medicine initiatives.