Summaries of Must-Read Clinical Literature, Guidelines, and FDA Actions
Genetic Testing for Hypertrophic Cardiomyopathy
Genet Med; ePub 2018 Jun 6; Mazzarotto, et al
The additive value of expanded panels in hypertrophic cardiomyopathy (HCM) genetic testing lies in the systematic screening of genes associated with HCM mimics, requiring different patient management. Researchers dissected genetic testing results from 1,198 single-center HCM probands and devised a widely applicable score to identify which genes yield effective results in the diagnostic setting. They found:
- Compared with early panels targeting only fully validated sarcomeric HCM genes, HCM genes, expanded next-generation sequencing (NGS) panels allow the prompt recognition of probands with HCM-mimicking diseases.
- Scoring by “diagnostic effectiveness” highlighted that PLN should also be routinely screened besides historically validated genes for HCM and its mimics.
- Larger panels offer limited additional sensitivity.
Mazzarotto F, Girolami F, Boschi B, et al. Defining the diagnostic effectiveness of genes for inclusion in panels: The experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center. [Published online ahead of print June 6, 2018]. Genet Med. doi:10.1038/s41436-018-0046-9.