Implications of Genomic Newborn Screening for Infant Mortality

Abstract

Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS). Genomic sequencing may complement current NBS laboratory analyses or may be used as a first-tier screening tool to identify disorders not detected by current approaches. As a large proportion of infant deaths occur in children with an underlying genetic disorder, earlier diagnosis of these disorders may improve neonatal and infant mortality rates. This lends an additional layer of ethical consideration regarding genomic newborn screening. We review the current understanding of genomic contributions to infant mortality and explore the potential implications of expanded access to genomic screening for infant mortality rates.

Keywords

• mortality
• infant
• neonate
• sequencing
• exome
• genome