Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
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.
Authors
- Ian Berry (ORCID: https://orcid.org/0000-0002-9710-4724)
- Sue Hill
- Richard H. Scott (ORCID: https://orcid.org/0000-0002-9113-2978)
- Andrew Parrish (ORCID: https://orcid.org/0009-0007-4527-2834)
- Richard Hall (ORCID: https://orcid.org/0000-0002-3264-3217)
- Joo Wook Ahn (ORCID: https://orcid.org/0000-0002-5628-2321)
- Caroline F. Wright (ORCID: https://orcid.org/0000-0003-2958-5076)
- Sarah L. Wynn (ORCID: https://orcid.org/0000-0001-6531-8181)
- Siân Morgan (ORCID: https://orcid.org/0000-0002-4943-653X)
- Emma Howard (ORCID: https://orcid.org/0000-0001-8411-5734)
- Zandra C. Deans (ORCID: https://orcid.org/0000-0001-9361-6012)
- Miranda Durkie (ORCID: https://orcid.org/0000-0001-7071-7048)
- R. Mein
- Sian Ellard (ORCID: https://orcid.org/0000-0002-7620-5526)
- Susan Walker
- Emma L. Baple (ORCID: https://orcid.org/0000-0002-6637-3411)
- Robert William Taylor (ORCID: https://orcid.org/0000-0002-7768-8873)
- Ana Juett
- Julia Rankin
- Louise Fish
- Emma-Jane Cassidy
Institutions
- North Bristol NHS Trust (GB)
- University of Exeter (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Great Ormond Street Hospital (GB)
- University Hospital of Wales (GB)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Edinburgh Royal Infirmary (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- Manchester University NHS Foundation Trust (GB)
- Sheffield Children's NHS Foundation Trust (GB)
- Chromosome 18 Registry & Research Society (US)
- Wellcome Centre for Mitochondrial Research (GB)
- Genomics England (GB)
- Genetic Alliance UK (United Kingdom) (GB)
- Center for Genomic Science (IT)
- Genomics (United Kingdom) (GB)
- NHS England
- University College London (GB)
- Salisbury NHS Foundation Trust (GB)
- Newcastle University (GB)
- Peninsula College of Medicine and Dentistry (GB)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-09-26
- DOI
- https://doi.org/10.1136/jmg-2024-110228
- Citations
- 10
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.50
Funders
- Medical Research Foundation