Genetic Testing and Race/Ethnicity

Genetic testing for heritable cardiovascular conditions can guide treatment and inform prognosis for affected individuals and their families. Family member screening can lead to early detection and provide opportunities for preventive and disease-modifying interventions but may be underutilized. Whether the diagnostic yield of genetic testing or the relative frequency of family variant testing differs by race and ethnicity remains unknown.

At #AHA23, one of us (SC) presented an analysis of more than 100,000 individuals referred for diagnostic genetic testing for cardiomyopathy, aortopathy, and arrhythmia at a large commercial testing laboratory over a seven-year period. We calculated the molecular diagnostic yield by race and ethnicity grouping as well as by the relative frequency of family variant testing between groups. This project was done in conjunction with two other UTSW faculty members: Justin Grodin, M.D., M.P.H., and Eric Peterson, M.D., M.P.H.

We found that despite being underrepresented in genomic databases, the diagnostic yield for cardiomyopathy and aortopathy genetic testing was higher in Black and Hispanic individuals compared with white individuals. Additionally, the relative frequency of family variant testing was substantially lower in Black and Hispanic individuals compared to white individuals.

Our findings reinforce the clinical utility of cardiovascular genetic testing regardless of race or ethnicity. The higher diagnostic yield in Black and Hispanic individuals may reflect disparities in referral or utilization of cardiovascular genetic testing in these groups and deserves further study. Increased efforts are needed to ensure appropriate referrals for family variant screening, particularly in Black and Hispanic individuals.