Evidence map›Paper›PMID 38956197›Full record

ArticleNature medicine2024

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

Angus Hodder, Sarah M Leiter, Jonathan Kennedy, Dilys Addy, Munaza Ahmed, Thankamma Ajithkumar, Kieren Allinson, Phil Ancliff, Shivani Bailey, Gemma Barnard and 37 more

Abstract read
In one paragraph

Article in Nature medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

23 citing papers in PubMed.

  1. Observational
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Respone to Škudar.Neuropathology and applied neurobiology · 2026
    Article
  11. Review
  12. Article
  13. Review
  14. Article
  15. Review
  16. Article
  17. Review
  18. Article
  19. Review
  20. Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.Journal of Korean Neurosurgical Society · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

47 authors.

Angus Hodder *Great Ormond Street Hospital NHS Foundation Trust, London, UK.ORCID 0009-0003-2577-0677
Sarah M Leiter *Wellcome Sanger Institute, Hinxton, UK.ORCID 0000-0001-8321-3260
Jonathan KennedyGreat Ormond Street Hospital NHS Foundation Trust, London, UK.ORCID 0009-0002-4953-4639
Dilys AddyGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Munaza AhmedGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Thankamma AjithkumarCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Kieren AllinsonCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Phil AncliffGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Shivani BaileyCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Gemma BarnardCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
G A Amos BurkeCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID 0000-0003-2671-9972
Charlotte BurnsCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Julian Cano-FlanaganGreat Ormond Street Hospital NHS Foundation Trust, London, UK.ORCID 0009-0005-5971-7553
Jane ChalkerNorth Thames Genomic Laboratory Hub, London, UK.
Nicholas ColemanCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Danny ChengGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Yasmin ClinchNorth Thames Genomic Laboratory Hub, London, UK.
Caryl DrydenGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Sara GhorashianGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Blanche GriffinGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Gail HoranCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Michael HubankNorth Thames Genomic Laboratory Hub, London, UK.
Phillippa MayGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Joanna McDerraGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Rajvi NagrechaGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
James NicholsonCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
David O'ConnorGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Vesna PavasovicGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Annelies QuaegebeurCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Anupama RaoGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Thomas RobertsCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Sujith SamarasingheGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Iryna StasevichGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
John A TadrossCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID 0000-0002-8424-1252
Claire TrayersCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Jamie TrotmanCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID 0000-0002-6246-4121
Ajay VoraGreat Ormond Street Hospital NHS Foundation Trust, London, UK.ORCID 0000-0002-2167-4368
James WatkinsCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID 0000-0002-2253-6653
Lyn S ChittyGreat Ormond Street Hospital NHS Foundation Trust, London, UK.
Sarah BowdinCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Ruth ArmstrongCambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Matthew J MurrayCambridge University Hospitals NHS Foundation Trust, Cambridge, UK. mjm16@cam.ac.uk.ORCID 0000-0002-4480-1147
Catherine E HookCambridge University Hospitals NHS Foundation Trust, Cambridge, UK. lizhook@nhs.net.ORCID 0000-0002-0450-7656
Patrick TarpeyCambridge University Hospitals NHS Foundation Trust, Cambridge, UK. patrick.tarpey1@nhs.net.ORCID 0000-0002-2042-4543
Aditi VediCambridge University Hospitals NHS Foundation Trust, Cambridge, UK. a.vedi@nhs.net.ORCID 0000-0001-6761-6510
Jack BartramGreat Ormond Street Hospital NHS Foundation Trust, London, UK. jack.bartram@gosh.nhs.uk.ORCID 0000-0003-1573-2506
Sam BehjatiWellcome Sanger Institute, Hinxton, UK. sb31@sanger.ac.uk.ORCID 0000-0002-6600-7665

Funding

Wellcome TrustWellcome Trust 220540/Z/20/AWellcome Trust 223135/Z/21/ZWellcome Trust (Wellcome) 220540/Z/20/A and 223135/Z/21/Z
6 · The paper itself

Abstract

Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups. It remains unknown whether offering WGS to every child with suspected cancer can change patient management. We collected WGS variant calls and clinical and diagnostic information from 281 children (282 tumors) across two English units (n = 152 from a hematology center, n = 130 from a solid tumor center) where WGS had become a routine test. Our key finding was that variants uniquely attributable to WGS changed the management in ~7% (20 out of 282) of cases while providing additional disease-relevant findings, beyond standard-of-care molecular tests, in 108 instances for 83 (29%) cases. Furthermore, WGS faithfully reproduced every standard-of-care molecular test (n = 738) and revealed several previously unknown genomic features of childhood tumors. We show that WGS can be delivered as part of routine clinical care to children with suspected cancer and can change clinical management by delivering unexpected genomic insights. Our experience portrays WGS as a clinically impactful assay for routine practice, providing opportunities for assay consolidation and for delivery of molecularly informed patient care.

Indexed as

NeoplasmsWhole Genome SequencingAdolescentChildChild, PreschoolFemaleGenetic TestingGenome, HumanGenomicsHumansInfantInfant, NewbornMale

Identifiers

PMID38956197
PMCPMC11271414

What OpenQuestion holds

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Registered trials

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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.