{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T02:07:38Z","timestamp":1792116458512,"version":"4.4.0"},"reference-count":64,"publisher":"BMJ","issue":"12","license":[{"start":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T00:00:00Z","timestamp":1727308800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009187","name":"Medical Research Foundation","doi-asserted-by":"publisher","award":["MRF-145-0010-DG-BAPL-C0912"],"award-info":[{"award-number":["MRF-145-0010-DG-BAPL-C0912"]}],"id":[{"id":"10.13039\/501100009187","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,9,9]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:sec>\n                  <jats:title>Purpose and scope<\/jats:title>\n                  <jats:p>The aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equitable access to genomic testing with reporting of results within commissioned turnaround times.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods of statement development<\/jats:title>\n                  <jats:p>A 1-day workshop was convened by the UK Association for Clinical Genomic Science and attended by key stakeholders within the NHS Genomic Medicine Service, including clinical scientists, clinical geneticists and patient support group representatives. The aim was to identify best practice and innovations for streamlined, geographically consistent services delivering timely results. Attendees and senior responsible officers for genomic testing services in the UK nations and Ireland were invited to contribute.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results and conclusions<\/jats:title>\n                  <jats:p>We identified eight fundamental requirements and describe these together with key enablers in the form of specific recommendations. These relate to laboratory practice (proportionate variant analysis, bioinformatics pipelines, multidisciplinary team working model and test request monitoring), compliance with national guidance (variant classification, incidental findings, reporting and reanalysis), service development and improvement (multimodal testing and innovation through research, informed by patient experience), service demand, capacity management, workforce (recruitment, retention and development), and education and training for service users. This position statement was developed to provide best practice guidance for the specialist genomics workforce within the UK and Ireland but is relevant to any publicly funded healthcare system seeking to deliver timely rare disease genomic testing in the context of high demand and limited resources.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2024-110228","type":"journal-article","created":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T18:55:13Z","timestamp":1727376913000},"page":"1103-1112","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":13,"title":["Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7620-5526","authenticated-orcid":false,"given":"Sian","family":"Ellard","sequence":"first","affiliation":[{"name":"Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael","family":"Mein","sequence":"additional","affiliation":[{"name":"NHS England, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Juett","sequence":"additional","affiliation":[{"name":"South West Genomic Medicine Service, England, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joo Wook","family":"Ahn","sequence":"additional","affiliation":[{"name":"Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Berry","sequence":"additional","affiliation":[{"name":"South West Genomic Medicine Service, England, UK"},{"name":"Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma-Jane","family":"Cassidy","sequence":"additional","affiliation":[{"name":"Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miranda","family":"Durkie","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Fish","sequence":"additional","affiliation":[{"name":"Genetic Alliance UK, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Hall","sequence":"additional","affiliation":[{"name":"South East Genomic Laboratory Hub, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Howard","sequence":"additional","affiliation":[{"name":"Manchester University NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[{"name":"South West Genomic Medicine Service, England, UK"},{"name":"Peninsula Clinical Genetics Service, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline F","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zandra C","family":"Deans","sequence":"additional","affiliation":[{"name":"GenQA, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H","family":"Scott","sequence":"additional","affiliation":[{"name":"Genomics England Limited, London, UK"},{"name":"Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, 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