Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.

ABSTRACT: Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted genetic tests. Furthermore, cost of care for children and adults with CHD has increased dramatically. Rapid whole genome sequencing (rWGS) of newborns in intensive care units with suspected genetic diseases has been associated with increased rate of diagnosis and a net reduction in cost of care. In this study, we explored whether the clinical utility of rWGS extends to critically ill infants with structural CHD through a retrospective review of rWGS study data obtained from inpatient infants < 1 year with

SUBMITTER: Sweeney NM 

PROVIDER: S-EPMC8062477 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature