Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis
Abstract
Whole-genome sequencing (WGS) has been shown to improve diagnosis beyond standard-of-care genetic tests and guide precision treatment for childhood cancer. While WGS is now offered for children with suspected cancer in England, clinical workflows typically return results after several weeks whereas clinical decisions are often required within days. Here we evaluate feasibility and efficacy of a rapid WGS (rWGS) research workflow with streamlined bioinformatics to deliver clinical genomic findings (NCT07201038, Active, not recruiting). In 54 children with suspected or confirmed malignancy, rWGS reduces mean end-to-end turnaround time from 42 to 3 days, whilst increase variant detection rate. Whereby rWGS detected 147 of 155 (95%) clinically actionable variants identified in the cohort, standard of care testing detected 138 of 155 (89%) variants. In a subset of 35 patients assessed prospectively, clinicians report that in 17 (49%), rWGS either (i) facilitates faster access to targeted therapy and risk stratification, or (ii) avoids unnecessary investigations and treatment escalation. These findings indicate feasibility and suggest clinical utility of rWGS when deployed as a first line diagnostic test in pediatric oncology.
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BibTeX
@article{vedi2026rapid,
title = {{Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis}},
author = {Aditi Vedi and Jamie Trotman and Joao M. L. Dias and Martina Mijuskovic and Sera Choi and Laura Kingham and Rachel A. Moore and Sarah M. Leiter and Rowena Guermech and Amanda Semerene and Aviva Grisby and Sophie Wool and Victoria Joslin and Arunthethy Mahendrayogam and Jonathan Abrams and Michael Gattens and Esther Blanco and Emmy L. Dickens and Charlotte Burns and Matthew J. Murray and John A. Tadross and Claire Trayers and Catherine E. Hook and Jennifer Becq and Taksina Newington and Ivana Armogida and Zoya Kingsbury and Pascal Grobecker and Ines Vitoriano and Mitchell A. Bekritsky and Jacqueline Weir and Louise J. Fraser and Mark Ross and David Bentley and Matthew Cullen and Sam Behjati and Jack Bartram and Sean J. Humphray and Patrick Tarpey and David Rowitch},
journal = {Nature Communications},
year = {2026},
month = oct,
doi = {10.1038/s41467-026-77918-x},
url = {https://www.nature.com/articles/s41467-026-77918-x},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis
AU - Aditi Vedi
AU - Jamie Trotman
AU - Joao M. L. Dias
AU - Martina Mijuskovic
AU - Sera Choi
AU - Laura Kingham
AU - Rachel A. Moore
AU - Sarah M. Leiter
AU - Rowena Guermech
AU - Amanda Semerene
AU - Aviva Grisby
AU - Sophie Wool
AU - Victoria Joslin
AU - Arunthethy Mahendrayogam
AU - Jonathan Abrams
AU - Michael Gattens
AU - Esther Blanco
AU - Emmy L. Dickens
AU - Charlotte Burns
AU - Matthew J. Murray
AU - John A. Tadross
AU - Claire Trayers
AU - Catherine E. Hook
AU - Jennifer Becq
AU - Taksina Newington
AU - Ivana Armogida
AU - Zoya Kingsbury
AU - Pascal Grobecker
AU - Ines Vitoriano
AU - Mitchell A. Bekritsky
AU - Jacqueline Weir
AU - Louise J. Fraser
AU - Mark Ross
AU - David Bentley
AU - Matthew Cullen
AU - Sam Behjati
AU - Jack Bartram
AU - Sean J. Humphray
AU - Patrick Tarpey
AU - David Rowitch
PY - 2026
DA - 2026/10/06
JO - Nature Communications
DO - 10.1038/s41467-026-77918-x
UR - https://www.nature.com/articles/s41467-026-77918-x
AB - Whole-genome sequencing (WGS) has been shown to improve diagnosis beyond standard-of-care genetic tests and guide precision treatment for childhood cancer. While WGS is now offered for children with suspected cancer in England, clinical workflows typically return results after several weeks whereas clinical decisions are often required within days. Here we evaluate feasibility and efficacy of a rapid WGS (rWGS) research workflow with streamlined bioinformatics to deliver clinical genomic findings (NCT07201038, Active, not recruiting). In 54 children with suspected or confirmed malignancy, rWGS reduces mean end-to-end turnaround time from 42 to 3 days, whilst increase variant detection rate. Whereby rWGS detected 147 of 155 (95%) clinically actionable variants identified in the cohort, standard of care testing detected 138 of 155 (89%) variants. In a subset of 35 patients assessed prospectively, clinicians report that in 17 (49%), rWGS either (i) facilitates faster access to targeted therapy and risk stratification, or (ii) avoids unnecessary investigations and treatment escalation. These findings indicate feasibility and suggest clinical utility of rWGS when deployed as a first line diagnostic test in pediatric oncology.
SN - 2041-1723
ER -