Racial, Ethnic Differences in Cardiomyopathy Genetic Testing

HealthDay News — Compared with underrepresented minorities, white individuals have significantly higher positive detection rates and lower rates of inconclusive results on cardiomyopathy genetic testing, according to a study published in JAMA Cardiology.

Latrice G. Landry, PhD, from the US Food and Drug Administration in Silver Spring, Maryland, and Heidi L. Rehm, PhD, from Brigham and Women’s Hospital in Boston, conducted a cross-sectional analysis of the genetic panel test results for 5729 probands with a suspected diagnosis or family history of cardiomyopathy who had been referred for testing. The results were stratified into 3 categories: white (79.2%), Asian (6.1%), and underrepresented minorities (14.7%).

The researchers found that positive detection occurred in 29% of white individuals compared with 18.4% and 25% of underrepresented minorities and Asians, respectively (P <.001 and P =.12, respectively). Inconclusive results were seen in 24.6% of whites compared with 39.8% and 39.2% of underrepresented minorities and Asians, respectively (both P <.001).

“This clear disparity warrants further study to understand the gaps in usefulness, which may derive from a lack of clinical testing and research in underrepresented minority populations, in the hopes of improving genetic testing outcomes for cardiomyopathy in nonwhite groups,” the authors wrote.

Reference

Landry LG, Rehm HL. Association of racial/ethnic categories with the ability of genetic tests to detect a cause of cardiomyopathy [published online February 28, 2018]. JAMA Cardiol. doi:10.1001/jamacardio.2017.5333