Racial Disparities in Access Reduce Utility of Genetic Testing

Underrepresented minorities (URM) are less likely to receive a diagnosis from genetic testing for cardiomyopathy and are more likely to receive inconclusive testing results, compared to whites undergoing testing, according to a study published Feb. 28 in JAMA Cardiology. The authors say that these findings are the result of disparities in access to genetic testing. "Cardiomyopathy testing has a statistically significant lower detection rate in URM individuals, which is likely because of the reduction of primary data from URM individuals in both the research and clinical testing settings," writes coauthor Latrice Landry, Ph.D., from the U.S. Food and Drug Administration in Silver Spring, Md. Furthermore, the rate of inconclusive test results is also higher in URM individuals, further undermining the utility of genetic testing in these populations and creating additional disparities for these populations beyond the fundamental lack of use of genetic testing already documented for URM individuals. With a prevalence of 1 in every 500 individuals, cardiomyopathy is one of the most common monogenic cardiac diseases in the US population and genetic testing has become routine for the diagnosis of the condition. In the current study, the researchers analyzed molecular diagnostic testing data from 5,729 probands (male, 61.1 percent) […]