Key result
Next-generation sequencing for hereditary cardiac diseases holds diagnostic promise, but its clinical impact is currently limited by insufficient genotype-phenotype correlation.
Next-generation sequencing holds diagnostic promise for hereditary cardiac diseases, but its current clinical impact is limited by insufficient genotype-phenotype correlation.
In the article by Jongbloed et al. in the current issue of Expert Opinion on Medical Diagnostics entitled 'New clinical molecular diagnostic methods for congenital and inherited heart disease', the authors introduce the application of next-generation sequencing technologies to a wide range of genetically based cardiac diseases. Although these technologies certainly are exciting and hold great diagnostic promise, their impact is limited at present by insufficient correlation between genotype and phenotype in cardiac disease. In the following discussion, the application of genetic testing in the evaluation of two important familial cardiac diseases, familial cardiomyopathy and long QT syndrome, is considered.
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Jensen et al. (2010) conducted an editorial in Hereditary cardiac disease. Next-generation sequencing was evaluated. Next-generation sequencing for hereditary cardiac diseases holds diagnostic promise, but its clinical impact is currently limited by insufficient genotype-phenotype correlation.
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