Benefits for children with suspected cancer from routine whole-genome sequencing

Clinical whole-genome sequencing (WGS) has shown potential benefits for children with cancer, altering treatment in high-risk groups. This study investigated whether offering WGS to every child with suspected cancer improves patient management. WGS data and clinical information from 281 children (282 tumors) were analyzed. WGS-attributable variants changed management in ~7% of cases, providing additional disease-relevant findings in 29% of cases. WGS faithfully reproduced standard-of-care tests and revealed new genomic features. The study concludes that WGS is a clinically impactful assay for routine practice, offering opportunities for assay consolidation and molecularly informed care.

Angus Hodder, Sarah M. Leiter, Jonathan Kennedy, Dilys Addy, Munaza Ahmed, Thankamma Ajithkumar, Kieren Allinson, Phil Ancliff, Shivani Bailey, Gemma Barnard, G. A. Amos Burke, Charlotte Burns, Julian Cano-Flanagan, Jane Chalker, Nicholas Coleman, Danny Cheng, Yasmin Clinch, Caryl Dryden, Sara Ghorashian, Blanche Griffin, Gail Horan, Michael Hubank, Phillippa May, Joanna McDerra, Rajvi Nagrecha, James Nicholson, David O’Connor, Vesna Pavasovic, Annelies Quaegebeur, Anupama Rao, Thomas Roberts, Sujith Samarasinghe, Iryna Stasevich, John A. Tadross, Claire Trayers, Jamie Trotman, Ajay Vora, James Watkins, Lyn S. Chitty, Sarah Bowdin, Ruth Armstrong, Matthew J. Murray, Catherine E. Hook, Patrick Tarpey, Aditi Vedi, Jack Bartram, Sam Behjati