Newborn screening system: Safety, technology, advocacy

Edward R B McCabe

doi:10.1016/j.ymgme.2021.07.003

Newborn screening system: Safety, technology, advocacy

Mol Genet Metab. 2021 Sep-Oct;134(1-2):3-7. doi: 10.1016/j.ymgme.2021.07.003. Epub 2021 Jul 16.

Author

Edward R B McCabe¹

Affiliation

¹ Double Strand Enterprises, LLC; Distinguished Professor Emeritus, Department of Pediatrics, Inaugural Mattel Executive Endowed Chair of Pediatrics, UCLA School of Medicine; Inaugural Physician-in-Chief, Mattel Children's Hospital UCLA, USA. Electronic address: emccabe@mednet.ucla.edu.

PMID: 34384699
DOI: 10.1016/j.ymgme.2021.07.003

Abstract

Newborn screening (NBS) is more than 50 years old and has proven to be a powerful and successful public health system. NBS must be regarded as a system and not simply as a test. We need to work as a community to improve the culture of safety for the NBS system and thereby to reduce the risk of babies being missed by the NBS system. Adding new technologies will not prevent system failures; that will require adherence to the culture of safety. Some have argued that every newborn should have their genome sequenced at birth and this sequencing could be part of NBS. However, NBS has depended on biomarker phenotypes throughout its history and our understanding of the relationships between genotype and phenotype is imperfect. Therefore, we should avoid being seduced by genomic sequencing technology and continue to focus on phenotypic biomarkers in NBS.

Keywords: Advocacy; DNA sequencing; Inherited metabolic disorders; Newborn screening.

MeSH terms

Humans
Infant, Newborn
Metabolism, Inborn Errors / diagnosis*
Middle Aged
Neonatal Screening / legislation & jurisprudence
Neonatal Screening / methods*
Neonatal Screening / standards*
Parents
Public Health / legislation & jurisprudence*
Public Health / methods
Public Health / standards*
Technology / legislation & jurisprudence
Technology / methods
Technology / standards