From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening

NBS has transformed over the past 6 decades from single-condition testing to complex, multi-disorder programs. While genomic technologies promise further expansion, careful evaluation of clinical, ethical, and practical considerations is essential to ensure that NBS continues to provide timely, equitable, and beneficial care to all newborns.

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Publication Details

Journal
Clinical Chemistry
Published
2025-10-24
DOI
https://doi.org/10.1093/clinchem/hvaf148
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening

Amber Nakar-Weinstein, Yishay Ben-Moshe, V Reid Sutton
Clinical Chemistry
Metabolism and Genetic Disorders
article

From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening

Amber Nakar-Weinstein, Yishay Ben-Moshe, V Reid Sutton
article en

Abstract

NBS has transformed over the past 6 decades from single-condition testing to complex, multi-disorder programs. While genomic technologies promise further expansion, careful evaluation of clinical, ethical, and practical considerations is essential to ensure that NBS continues to provide timely, equitable, and beneficial care to all newborns.

Clinical ChemistryVol. 72(1)
Baylor College of Medicine (US), Texas Children's Hospital (US)
Partnerships for the goals
Openalex Percentile: Top 26%
Metabolism and Genetic Disorders
DOISourceOpenAlex
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From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening — Amber Nakar-Weinstein, Yishay Ben-Moshe, et al. · Clinical Chemistry (2025) | TGRS Research Map | TGRS