The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

ConclusionsResearch-focused efforts can increase the diagnostic yield by up to 5%. Where a variant is identified, this will have clinical utility beyond family screening in 13%. We demonstrate the value of genomics in reaching an overall diagnosis and highlight inequities based on ancestry. Acknowledging our incomplete understanding of disease phenotypes, we propose a framework for prioritising likely monogenic cases to solve their underlying cause of disease.

Source: Genome Medicine - December 28, 2022 Category: Genetics & Stem Cells Source Type: research