Genetic Misdiagnoses and the Potential for Health Disparities

Manrai, Arjun K.; Funke, Birgit H.; Rehm, Heidi L.; Olesen, Morten S.; Maron, Bradley A.; Szolovits, Peter; Margulies, David M.; Loscalzo, Joseph; Kohane, Isaac S.
New England Journal of Medicine

Although hypertrophic cardiomyopathy is best known as a fatal disease of young athletes, it causes considerable morbidity and mortality among patients of all ages and lifestyles.1,2 The defining feature of hypertrophic cardiomyopathy is unexplained left ventricular hypertrophy, but its clinical presentation is variable; it can manifest as severe heart failure in some patients yet be asymptomatic in others.3 In more than one third of patients, causal genetic lesions are identified, which enables clinicians to assess risk among the patient’s relatives4 and, in rare circumstances, to tailor therapy for a patient who is found to have a tractable disorder, such . . .