Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.

ABSTRACT:

Background

Congenital heart disease (CHD) is the most common major congenital anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a role of genetics in the development of CHD. Genetic diagnoses can inform prognosis and clinical management. However, genetic testing is not standardized among individuals with CHD. We sought to develop a list of validated CHD genes using established methods and to evaluate the process of returning genetic results to research participants in a large genomic study.

Methods

Two-hundred ninety-five candidate CHD genes were evaluated using a ClinGen framework. Sequence and copy number variants involving genes in the CHD gene list were analyzed in Pediatric Cardiac Genomics Consortium participants. Pathogenic/likely

SUBMITTER: Griffin EL 

PROVIDER: S-EPMC10121846 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature