Future of HCM Genetic Testing Depends on Standardized Approach

Future advancements in genetic testing of hypertrophic cardiomyopathy (HCM) depend on a standardized methodology for interpreting mutations, note authors of a study published on Aug. 13 in the Journal of the American College of Cardiology.

HCM is associated with mutations in 11 or more genes encoding proteins of the cardiac sarcomere (>1,400 variants). The study looks at the progress of HCM genomics over the past 20 years, which has led to fee-for-service automated DNA sequencing. However, the authors note that "proband testing may be associated with significant cost and economic burden." In addition, "interfacing a heterogeneous disease such as HCM with the vast genetic variability of the human genome, and high frequency of novel mutations, has created unforeseen difficulties in translating complex science (and language) into the clinical arena," note the authors.


The authors emphasize that bridging this gap in communication between clinicians and scientists is vital for accelerating progress of genetic testing for HCM. "To this purpose it would be important to work toward greater standardization and less ambiguity in reporting mutations, hopefully enabling such testing to achieve the confidence of the clinical community and ultimately its full potential for translating basic genetic information into HCM decision making and patient management," they add.

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