Genetic Misdiagnoses and the Potential for Health Disparities.

ABSTRACT:

Background

For more than a decade, risk stratification for hypertrophic cardiomyopathy has been enhanced by targeted genetic testing. Using sequencing results, clinicians routinely assess the risk of hypertrophic cardiomyopathy in a patient's relatives and diagnose the condition in patients who have ambiguous clinical presentations. However, the benefits of genetic testing come with the risk that variants may be misclassified.

Methods

Using publicly accessible exome data, we identified variants that have previously been considered causal in hypertrophic cardiomyopathy and that are overrepresented in the general population. We studied these variants in diverse populations and reevaluated their initial ascertainments in the medical literature. We reviewed patient records at a

SUBMITTER: Manrai AK 

PROVIDER: S-EPMC5292722 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature