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Updated: Oct 24, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

Newborn screening system: Safety, technology, advocacy.

Edward R B McCabe¹

¹Double 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.

Molecular Genetics and Metabolism

|August 13, 2021

Summary

Newborn screening (NBS) is a vital public health system. Focusing on safety culture and phenotypic biomarkers, rather than solely new technologies like genome sequencing, is crucial for preventing errors in newborn screening.

Keywords:

Advocacy DNA sequencing Inherited metabolic disorders Newborn screening

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Area of Science:

Public Health
Genetics
Biomarkers

Background:

Newborn screening (NBS) is a well-established public health system with over 50 years of success.
NBS is a complex system, not merely a diagnostic test, requiring a holistic approach to safety.
Historical success of NBS relies on phenotypic biomarkers.

Purpose of the Study:

To emphasize the importance of a safety culture within the NBS system.
To address the integration of new technologies, specifically whole genome sequencing, into NBS.
To advocate for continued reliance on phenotypic biomarkers for NBS.

Main Methods:

System analysis of NBS processes.
Literature review on the role of technology in NBS.
Discussion on genotype-phenotype relationships in the context of NBS.

Main Results:

New technologies alone do not prevent system failures in NBS.
Adherence to a robust safety culture is paramount for reducing errors and missed cases.
The imperfect understanding of genotype-phenotype correlations makes universal genome sequencing a potential risk for NBS.

Conclusions:

Improving the safety culture is essential for the integrity of the NBS system.
Genomic sequencing should not replace the established focus on phenotypic biomarkers in NBS.
A systems-thinking approach is necessary to enhance the reliability and effectiveness of newborn screening.