OP035: Rapid Whole Genome Sequencing (rWGS) in the cardiac NICU

Whole genome sequencing (WGS) is a comprehensive test that can detect protein-coding, deep intronic, copy number, mitochondrial and repeat expansion variants in a single diagnostic test. WGS has the potential to become a first-tier test for individuals with suspected genetic disorders as this provides better overall coverage of the coding region and has the ability to detect variants that may not be detected by panels, exomes, or microarrays. Recent studies suggest that rapid whole genome sequencing (rWGS) of newborns in intensive care units (ICU) with suspected genetic diseases has a high diagnosis yield and a net reduction in the cost of care.