A Garvan Institute of Medical Research- and University of New South Wales Sydney-led team reporting in Genome Medicine explores genomic contributions to inherited cardiac disease diagnoses and management at a multidisciplinary clinic at Sydney's Royal Prince Alfred Hospital that specializes in dealing with inherited cardiomyopathies and other heart conditions. Across almost 1,700 cases considered consecutively from 2002 to 2020, the researchers focused on 888 individuals who met the study's inclusion criteria, including the availability of genetic testing and clinical profiles. Of those cases, genetic testing uncovered pathogenic or likely pathogenic variants in 37 percent of cases and variants of uncertain significance (VUS) in another 8 percent, they report, with genetic results impacting diagnoses or care for 51 individuals. Continue reading
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