Genetic testing for many inherited cardiac conditions can have substantial clinical utility, including ensuring proper clinical management through correct diagnosis and preventing sudden death.1 These benefits rely on accurate classification of sequence variants, however. For hypertrophic cardiomyopathy, these have historically been misclassified in individuals of African American background.2 This clinical disparity has been attributed to the lack of accessible data from control populations composed of individuals of African ancestry, a general problem that has affected the investigation of essentially all genetic disorders in populations with diverse racial/ethnic backgrounds.2 The lack of available sequence data, particularly from patients with non-European ancestry who have been diagnosed with uncommon diseases (eg, hypertrophic cardiomyopathy), also contributes to nonclassification (ie, false-negative results).2 This is a major disparity in health care. If reputable laboratories are not testing certain populations, then variants from those populations will be underrepresented.
Gerhard GS, Fisher SG, Feldman AM. Genetic Testing for Inherited Cardiac Diseases in Underserved Populations of Non-European Ancestry: Double Disparity. JAMA Cardiol. 2018;3(4):273–274. doi:10.1001/jamacardio.2017.5345
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