Year: 2024
Type: article
Abstract: PURPOSE AND SCOPE: 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. METHODS OF STATEMENT DEVELOPMENT: 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. RESULTS AND CONCLUSIONS: 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.
Source: Journal of Medical Genetics
Authors: Sian Ellard, Sian Morgan, Sarah L Wynn, Susan Walker, Andrew Parrish, Rachael Mein, Ana Juett, Joo Wook Ahn, Ian Berry, Emma-Jane Cassidy, Miranda Durkie, Louise Fish, Richard Hall, Emma Howard, Julia Rankin, Caroline F Wright, Zandra C Deans, Richard H Scott, Sue L Hill, Emma L Baple, Robert W Taylor
Institutions: University of Exeter, Royal Devon & Exeter NHS Foundation Trust, University Hospital of Wales, Genomics England, NHS England, Cambridge University Hospitals NHS Foundation Trust, North Bristol NHS Trust, University Hospital Southampton NHS Foundation Trust, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Genetic Alliance UK (United Kingdom), Manchester University NHS Foundation Trust, Edinburgh Royal Infirmary, Great Ormond Street Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Funder: Medical Research Foundation
Award: G4324472790
OpenAlex ID: W4402883463