09 July 2024

Whole genome sequencing (WGS) has significantly improved the care of children with cancer in two hospitals in England, according to a new analysis.

WGS was responsible for immediate improvements in the clinical care of 7% of children with solid tumours and leukaemia, researchers report.

It also played a part in informing future care of 29% of children in the study, providing information that helped clinicians understand their disease, they report.

Researchers published their findings in Nature Medicine last week. They studied the care of 281 children in two cancer centres (Great Ormond Street Hospital in London and Cambridge University Hospital), where whole genome sequencing is used routinely. The project also involved the Wellcome Sanger Institute and the University of Cambridge.

According to the study, genome sequencing “faithfully” reproduced some 738 standard-of-care tests that were used for these children – and so could have replaced all the tests.

Researcher Dr Jack Bartram, from Great Ormond Street Hospital NHS Foundation Trust and the North Thames Genomic Medicine Service, said: “Childhood cancer treatment is mostly guided by genetic features of the tumour, and therefore an in-depth genetic understanding of cancer is crucial in guiding our practice.

“Our research shows that whole genome sequencing delivers tangible benefits above existing tests, providing better care for our patients. We hope this research really highlights why whole genome sequencing should be delivered as part of routine clinical care to all children with suspected cancer.”

Fellow researcher Professor Sam Behjati, from the Wellcome Sanger Institute, Cambridge, said: “Whole genome sequencing provides the gold standard, most comprehensive and cutting edge view of cancer. What was once a research tool that the Sanger Institute started exploring over a decade ago, has now become a clinical test that I can offer to my patients.”


Hodder A, Leiter SM, Kennedy J, Addy D, Ahmed M, Ajithkumar T, Allinson K, Ancliff P, Bailey S, Barnard G, Burke GAA, Burns C, Cano-Flanagan J, Chalker J, Coleman N, Cheng D, Clinch Y, Dryden C, Ghorashian S, Griffin B, Horan G, Hubank M, May P, McDerra J, Nagrecha R, Nicholson J, O'Connor D, Pavasovic V, Quaegebeur A, Rao A, Roberts T, Samarasinghe S, Stasevich I, Tadross JA, Trayers C, Trotman J, Vora A, Watkins J, Chitty LS, Bowdin S, Armstrong R, Murray MJ, Hook CE, Tarpey P, Vedi A, Bartram J, Behjati S. (2024) “Benefits for children with suspected cancer from routine whole genome sequencing.” Nature Medicine, 2 July 2024, doi: 10.1038/s41591-024-03056-w.

Link: https://www.nature.com/articles/s41591-024-03056-w

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