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dc.contributor.authorTrotman, Jamie
dc.contributor.authorArmstrong, Ruth
dc.contributor.authorFirth, Helen
dc.contributor.authorTrayers, Claire
dc.contributor.authorWatkins, James
dc.contributor.authorAllinson, Kieren
dc.contributor.authorJacques, Thomas S
dc.contributor.authorNicholson, James C
dc.contributor.authorBurke, GA Amos
dc.contributor.authorGenomics England Research Consortium
dc.contributor.authorBehjati, Sam
dc.contributor.authorMurray, Matthew
dc.contributor.authorHook, Catherine E
dc.contributor.authorTarpey, Patrick
dc.description.abstractBACKGROUND: Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all children with cancer. This approach was piloted during the 100,000 genomes (100 K) project. Here we share the experience of the East of England Genomic Medicine Centre (East-GMC), reporting the feasibility and clinical utility of centralised WGS for individual children locally. METHODS: Non-consecutive children with solid tumours were recruited into the pilot 100 K project at our Genomic Medicine Centre. Variant catalogues were returned for local scrutiny and appraisal at dedicated genomic tumour advisory boards with an emphasis on a detailed exploration of potential clinical value. RESULTS: Thirty-six children, representing one-sixth of the national 100 K cohort, were recruited through our Genomic Medicine Centre. The diagnoses encompassed 23 different solid tumour types and WGS provided clinical utility, beyond standard-of-care assays, by refining (2/36) or changing (4/36) diagnoses, providing prognostic information (8/36), defining pathogenic germline mutations (1/36) or revealing novel therapeutic opportunities (8/36). CONCLUSION: Our findings demonstrate the feasibility and clinical value of centralised WGS for children with cancer. WGS offered additional clinical value, especially in diagnostic terms. However, our experience highlights the need for local expertise in scrutinising and clinically interpreting centrally derived variant calls for individual children.
dc.description.sponsorshipThe 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. Tom Jacques is funded by the Brain Tumour Charity, Children with Cancer UK, Great Ormond Street Hospital Children’s Charity, Olivia Hodson Cancer Fund, Cancer Research UK and the National Institute of Health Research via the Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre.
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.titleThe NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
dc.publisher.departmentDepartment of Pathology
prism.publicationNameBr J Cancer
dc.contributor.orcidTrotman, Jamie [0000-0002-6246-4121]
dc.contributor.orcidAllinson, Kieren [0000-0003-3468-2110]
dc.contributor.orcidBurke, GA Amos [0000-0003-2671-9972]
dc.contributor.orcidMurray, Matthew [0000-0002-4480-1147]
dc.contributor.orcidTarpey, Patrick [0000-0002-2042-4543]
rioxxterms.typeJournal Article/Review
pubs.funder-project-idNational Institute for Health Research (NIHRDH-IS-BRC-1215-20014)
cam.orpheus.success2022-05-05: VoR added to Apollo record
pubs.licence-display-nameApollo Repository Deposit Licence Agreement

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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International