NEW YORK (GenomeWeb) — Geisinger Health announced today that it has won a $3.1 million award from the National Institutes of Health to develop genomic-based approaches for detecting arrhythmogenic right ventricular cardiomyopathy (ARVC).
ARVC is a degenerative heart condition that can cause sudden cardiac death, often absent clinical symptoms, according to Geisinger. With the five-year NIH grant, the Danville, Pennsylvania-based health system said it will use its MyCode Community Health Initiative biobank of whole-exome sequence data — which currently includes over 90,000 completed sequences and has more than 250,000 consented participants — to analyze ARVC variants and their associated phenotypic burden. MyCode participants with pathogenic or likely pathogenic ARVC variants will be recruited for prospective clinical and research phenotyping assessments.
Geisinger also aims to confirm associations between exercise and ARVC penetrance, and use MRI techniques to identify changes in cardiac structure and function in patients with pathogenic ARVC variants that may be indicative of disease.
"Genomic screening for ARVC offers an opportunity to identify patients at risk for sudden cardiac death prior to the presentation of symptoms," Geisinger's Christopher Haggerty, the principal investigator of the study, said in a statement. "With early detection, there is the potential for preventive measures."