Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation [Original Articles]

Conclusions— Discordance in variant classification among hypertrophic cardiomyopathy centers is largely attributable to privately held data. Some discrepancies are caused by differences in expert assessment of conflicting data. Discordance was markedly lower among centers specialized in hypertrophic cardiomyopathy than among clinical laboratories, suggesting that optimal genetic test interpretation occurs in the context of clinical care delivered by specialized centers with both clinical and genetics expertise.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Clinical Studies, Genetics, Cardiomyopathy, Hypertrophy, Diagnostic Testing Original Articles Source Type: research