10May 2023
Genetic testing yields promising results for patients with congenital heart disease

Genetic testing yields promising results for patients with congenital heart disease

The article discusses the role of genetics in the development of congenital heart disease (CHD) and the need for standardized genetic testing among individuals with CHD. The authors developed a list of validated CHD genes using established methods and evaluated the process of returning genetic results to research participants in a large genomic study. They found that 99 genes had a strong or definitive clinical validity classification, and the diagnostic yields for copy number variants and exome sequencing were 1.8% and 3.8%, respectively. The study applied ClinGen criteria to a list of candidate genes associated with CHD and used it to interpret genetic testing results in a large research cohort. After receiving the genetic results, participants reported high personal utility and no decision regret. The study concludes that the gene list can be used to interpret clinical genetic testing for CHD and provides a lower bound for the yield of genetic testing in CHD.

  • #cardiology

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