INFANT: Identifying At-risk Newborns from the Analysis of NGS TestingThis sequencing project will help enable earlier detection of rare diseases in newborns to improve patient outcomes and reduce health care costs associated with rare disease diagnosis. Abstract Newborn screening (NBS) is a public health program that identifies treatable rare diseases (RDs) at birth. Newborn Screening Ontario performs NBS for Ontario, Newfoundland, part of Quebec and Qikiqtaaluk (~150,000/yr). Most of the current 31 NBS RDs are identified via metabolomics. However, the emergence of transformative therapies for non-metabolic RDs has created an urgent need for DNA screening methods. Pilot programs worldwide are assessing whole genome sequencing (WGS) in NBS, termed genomic NBS (gNBS), and Canada is behind. gNBS will revolutionize precision health by enabling early detection of an expanding array of treatable RDs, optimizing patient outcomes and reducing health care costs. Our current NBS program identifies ~0.5% of infants requiring RD treatment; with gNBS, based on comparable studies, we would triple the number of infants detected and treated for RDs. We will collaborate with gNBS pilots in England, Australia and the US, building on their success, to establish a...Access is restricted by the data custodian. The collection's description and structure are public; the data is not available for querying through this network.INFANT: Identifying At-risk Newborns from the Analysis of NGS Testing is published on Canadian Precision Health Initiative.