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Lookup NU author(s): Professor Robert Taylor
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
© Author(s) (or their employer(s)) 2024.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.
Author(s): Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy E-J, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW, Baty D, Berg J, Blair E, Bowdin S, Bownass L, Bradley T, Campbell J, Charlton R, Clouston P, Constantinou P, Cooper N, Delon I, Downes K, Ellis D, Elmslie F, Ghali N, Hagan R, Heggarty S, Higgs J, Hunt D, Jenkins L, McAnulty C, McCann E, McDevitt T, McMullan D, Miedzybrodzka Z, Moore D, Newman W, O'Sullivan D, Parker M, Porteous M, Ramsden S, Rea G, Ruddy D, Ryan G, Sarkar A, Sheridan E, Short J, Thomas E, Thomas S, Varghese V, Vasudevan P, Wakeling E, Williams A, Wright M
Publication type: Article
Publication status: Published
Journal: Journal of Medical Genetics
Year: 2024
Issue: ePub ahead of Print
Online publication date: 26/09/2024
Acceptance date: 09/09/2024
Date deposited: 18/10/2024
ISSN (print): 0022-2593
ISSN (electronic): 1468-6244
Publisher: BMJ Publishing Group
URL: https://doi.org/10.1136/jmg-2024-110228
DOI: 10.1136/jmg-2024-110228
PubMed id: 39327040
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