The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
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Published:2022-04-22
Issue:1
Volume:127
Page:137-144
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ISSN:0007-0920
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Container-title:British Journal of Cancer
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language:en
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Short-container-title:Br J Cancer
Author:
Trotman JamieORCID, Armstrong Ruth, Firth Helen, Trayers Claire, Watkins James, Allinson KierenORCID, Jacques Thomas S., Nicholson James C., Burke G. A. AmosORCID, Ambrose J. C., Arumugam P., Bevers R., Bleda M., Boardman-Pretty F., Boustred C. R., Brittain H., Caulfield M. J., Chan G. C., Fowler T., Giess A., Hamblin A., Henderson S., Hubbard T. J. P., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Kousathanas A., Lahnstein L., Leigh S. E. A., Leong I. U. S., Lopez F. J., Maleady-Crowe F., McEntagart M., Minneci F., Moutsianas L., Mueller M., Murugaesu N., Need A. C., O‘Donovan P., Odhams C. A., Patch C., Perez-Gil D., Pereira M. B., Pullinger J., Rahim T., Rendon A., Rogers T., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smith S. C., Sosinsky A., Stuckey A., Tanguy M., Taylor Tavares A. L., Thomas E. R. A., Thompson S. R., Tucci A., Welland M. J., Williams E., Witkowska K., Wood S. M., Behjati Sam, Murray Matthew J., Hook Catherine E., Tarpey PatrickORCID,
Abstract
Abstract
Background
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.
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Oncology
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