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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

24 Aug 2022

Abstract excerpt

Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequencing (rWGS) is attractive for comprehensive NBS because it concomitantly examines almost all genetic diseases and is gaining acceptance for genetic disease diagnosis...

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PMID: 36007526
DOI: 10.1016/j.ajhg.2022.08.003

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