Newborn Screening for Neurodevelopmental Disorders May Exacerbate Health Disparities

Pediatrics. 2023 Oct 1;152(4):e2023061727. doi: 10.1542/peds.2023-061727.

Abstract

Newborn screening (NBS) began in the early 1960s with screening for phenylketonuria on blood collected on filter paper. The number of conditions included in NBS programs expanded significantly with the adoption of tandem mass spectrometry. The recommended uniform screening panel provides national guidance and has reduced state variability. Universality and uniformity have been supported to promote equity. Recently, a number of researchers have suggested expanding NBS to include genomic sequencing to identify all genetic disorders in newborns. This has been specifically suggested for genes that increase the risk for neurodevelopmental disorders (NDDs), with the presumption that early identification in the newborn period would reduce disabilities. We offer arguments to show that genomic sequencing of newborns for NDDs risks exacerbating disparities. First, the diagnosis of NDD requires clinical expertise, and both genetic and neurodevelopmental expertise are in short supply, leading to disparities in access to timely follow-up. Second, therapies for children with NDDs are insufficient to meet their needs. Increasing early identification for those at risk who may never manifest developmental delays could shift limited resources to those children whose parents are more poised to advocate, worsening disparities in access to services. Rather, we suggest an alternative: genomic sequencing of all children with diagnosed NDDs. This focused strategy would have the potential to target genomic sequencing at children who manifest NDDs across diverse populations which could better improve our understanding of contributory genes to NDDs.