REVIEW article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
This article is part of the Research TopicReviews In Genetics of Common and Rare DiseasesView all articles
Rapid Whole Whole Genome Sequencing in Newborn Screening for Metabolic Diseases
Provisionally accepted
Jun Zheng*
Xin Yang- Huaian Maternal and Child Health Care Hospital, Huaian, China
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Background and purpose Metabolic disorderseases, which are estimated to include approximately 1,500 distinct conditions encompassing conditions such as urea cycle disorders, lysosomal storage diseases, and mitochondrial dysfunctions, pose a significant clinical challenge due to their genetic heterogeneity and rapid onset of symptoms in newborns. Delays in diagnosis often lead to irreversible damage or mortality. Rapid whole genome sequencing (rWGS) has emerged as a transformative diagnostic tool, offering comprehensive genetic insights within 24–72 hours. Materials and methods This study reviews the application of rWGS in the early detection and management of metabolic diseases, emphasizing its role in overcoming limitations of traditional diagnostic methods. Results The integration of rWGS into clinical workflows offers a high diagnostic yield, exceeding 50% in neonatal intensive care units (NICUs), where timely interventions are critical. Utilizing advanced sequencing platforms, such as Illumina NovaSeq and Oxford Nanopore, coupled with optimized bioinformatics pipelines, rWGS enables precise variant identification and prioritization. Key findings highlight its capacity to accelerate diagnosis, inform therapeutic decisions, and reduce diagnostic odysseys. For instance, identifying pathogenic variants in genes allows early initiation of targeted therapies, significantly improving outcomes. Conclusions Despite its transformative potential, challenges remain, including cost, data interpretation, and equitable access. Addressing these barriers through investments in infrastructure, training, and policy frameworks will be crucial for broader implementation. This review underscores the critical role of rWGS in neonatal care and highlights its promise as a cornerstone of precision medicine, paving the way for improved diagnostic accuracy and patient outcomes in metabolic diseases.
Keywords: rapid whole genome sequencing, Metabolic Diseases, Newborn screening, Precisionmedicine, NICU diagnostics
Received: 15 Aug 2025; Accepted: 28 Oct 2025.
Copyright: © 2025 Zheng and Yang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jun Zheng, junzheng211@gmail.com
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.