ReviewFrontiers in pediatrics2025
Rapid whole genome sequencing in newborn screening for metabolic diseases.
Review in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and purpose: Metabolic disorders, which are estimated to include approximately 1,500 distinct 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 h. 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.