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Genetic Misdiagnoses and the Potential for Health Disparities

The New England journal of medicine, 2016-08, Vol.375 (7), p.655-665 [Peer Reviewed Journal]

Copyright © 2016 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMsa1507092 ;PMID: 27532831

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Title:
Genetic Misdiagnoses and the Potential for Health Disparities
Author: 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
Subjects: Adolescent ; Adult ; African Americans - genetics ; Aged ; Asian Americans - genetics ; Benign ; Cardiomyopathy ; Cardiomyopathy, Hypertrophic - genetics ; Child ; European Continental Ancestry Group - genetics ; Exome ; False Positive Reactions ; Genetic Predisposition to Disease ; Genetic screening ; Genetic Testing ; Genetic Variation ; Genomes ; Genotype ; Health disparities ; Health risk assessment ; Health Status Disparities ; Hispanic Americans - genetics ; Humans ; Medical diagnosis ; Middle Aged ; Mutation ; Population studies ; Sequence Analysis, DNA ; United States ; Young Adult
Is Part Of: The New England journal of medicine, 2016-08, Vol.375 (7), p.655-665
Description: This study shows that for variants initially classified as pathogenic that were later reclassified as benign, the misclassification would have been prevented had racially diverse populations been considered in the original studies of the variants. 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 relatives 4 and, in rare circumstances, to tailor therapy for a patient who is found to have a tractable disorder, such . . .
Publisher: United States: Massachusetts Medical Society
Language: English
Identifier: ISSN: 0028-4793
EISSN: 1533-4406
DOI: 10.1056/NEJMsa1507092
PMID: 27532831
Source: ProQuest One Psychology
MEDLINE
ProQuest Central

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Genetic Misdiagnoses and the Potential for Health Disparities

Copyright © 2016 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMsa1507092 ;PMID: 27532831

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