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Genetic Tests to Detect Cause of Cardiomyopathy

JAMA Cardiol; 2018 Apr; Landry, et al

Disparities in access to genetic testing have reduced the rate of detection of disease via genetic testing in underrepresented minorities, a recent study suggests. The cross-sectional study of genetic panel test results included 5,729 probands (61.5% males) who had a suspected diagnosis of family or history of cardiomyopathy and who had been referred for testing between October 2003 and December 2017. Results were stratified into 3 categories of self-reported race/ethnicity: white, Asian, and underrepresented minorities. The primary outcomes was whether a pathogenic or likely pathogenic variant was identified that explained the features or family history of cardiomyopathy. Researchers found:

  • Positive detection occurred in 1,314 white individuals (29.0%) compared with 155 underrepresented minorities (18.4%; χ21 = 39.8) and 87 Asian individuals (25.0%; χ21 = 2.5).
  • Inconclusive results were found in 1,115 white individuals (24.6%) compared with 335 underrepresented minorities (39.8%; χ21 = 83.6) and 136 Asian individuals (39.2%; χ21 = 35.8).

Citation:

Landry LG, Rehm HL. Association of racial/ethnic categories with the ability of genetic tests to detect a cause of cardiomyopathy. JAMA Cardiol. 2018;3(4):341–345. doi:10.1001/jamacardio.2017.5333.