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Ellard, Sian; Morgan, Sian; Wynn, Sarah L; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma-Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F; Deans, Zandra C; Scott, Richard H; Hill, Sue L; Baple, Emma L; Taylor, Robert W

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

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  • Media type: E-Article
  • Title: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
  • Contributor: Ellard, Sian; Morgan, Sian; Wynn, Sarah L; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma-Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F; Deans, Zandra C; Scott, Richard H; Hill, Sue L; Baple, Emma L; Taylor, Robert W
  • Published: BMJ, 2024
  • Published in: Journal of Medical Genetics (2024), Seite jmg-2024-110228
  • Language: English
  • DOI: 10.1136/jmg-2024-110228
  • ISSN: 0022-2593; 1468-6244
  • Origination:
  • Footnote:
  • Description: Purpose and scopeThe 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.Methods of statement developmentA 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.Results and conclusionsWe 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.