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

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

doi:10.1136/jmg-2024-110228

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

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 (Lead / Corresponding author)Robert W. Taylor (Lead / Corresponding author),

Undergraduate Medicine

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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.

Original language	English
Pages (from-to)	1103-1112
Number of pages	10
Journal	Journal of Medical Genetics
Volume	61
Issue number	12
Early online date	26 Sept 2024
DOIs	https://doi.org/10.1136/jmg-2024-110228
Publication status	Published - 25 Nov 2024

Keywords

Genetic Testing
Genetics
Genomics

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1136/jmg-2024-110228Licence: CC BY-NC

Final Published VersionFinal published version, 1.17 MBLicence: CC BY-NC

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Ellard, S., Morgan, S., Wynn, S. L., Walker, S., Parrish, A., Mein, R., Juett, A., Ahn, J. W., Berry, I., Cassidy, E. J., Durkie, M., Fish, L., Hall, R., Howard, E., Rankin, J., Wright, C. F., Deans, Z. C., Scott, R. H., Hill, S. L. (2024). Rare disease genomic testing in the UK and Ireland: Promoting timely and equitable access. Journal of Medical Genetics, 61(12), 1103-1112. https://doi.org/10.1136/jmg-2024-110228

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title = "Rare disease genomic testing in the UK and Ireland: Promoting timely and equitable access",

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.",

keywords = "Genetic Testing, Genetics, Genomics",

author = "Sian Ellard and Sian Morgan and Wynn, \{Sarah L.\} and Susan Walker and Andrew Parrish and Rachael Mein and Ana Juett and Ahn, \{Joo Wook\} and Ian Berry and Cassidy, \{Emma Jane\} and Miranda Durkie and Louise Fish and Richard Hall and Emma Howard and Julia Rankin and Wright, \{Caroline F.\} and Deans, \{Zandra C.\} and Scott, \{Richard H.\} and Hill, \{Sue L.\} and Baple, \{Emma L.\} and Taylor, \{Robert W.\} and David Baty and Jonathan Berg and Edward Blair and Sarah Bowdin and Lucy Bownass and Therese Bradley and Jennifer Campbell and Ruth Charlton and Penny Clouston and Panayiotis Constantinou and Nicola Cooper and Isabelle Delon and Kate Downes and David Ellis and Frances Elmslie and Neeti Ghali and Richard Hagan and Shirley Heggarty and Jennifer Higgs and David Hunt and Lucy Jenkins and Ciaron McAnulty and Emma McCann and Trudi McDevitt and Dominic McMullan and Zosia Miedzybrodzka and David Moore and William Newman and Simon Thomas",

year = "2024",

month = nov,

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doi = "10.1136/jmg-2024-110228",

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volume = "61",

pages = "1103--1112",

journal = "Journal of Medical Genetics",

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Ellard, S, Morgan, S, Wynn, SL, Walker, S, Parrish, A, Mein, R, Juett, A, Ahn, JW, Berry, I, Cassidy, EJ, Durkie, M, Fish, L, Hall, R, Howard, E, Rankin, J, Wright, CF, Deans, ZC, Scott, RH, Hill, SL, Baple, EL, Taylor, RW 2024, 'Rare disease genomic testing in the UK and Ireland: Promoting timely and equitable access', Journal of Medical Genetics, vol. 61, no. 12, pp. 1103-1112. https://doi.org/10.1136/jmg-2024-110228

TY - JOUR

T1 - Rare disease genomic testing in the UK and Ireland

T2 - Promoting timely and equitable access

AU - Ellard, Sian

AU - Morgan, Sian

AU - Wynn, Sarah L.

AU - Walker, Susan

AU - Parrish, Andrew

AU - Mein, Rachael

AU - Juett, Ana

AU - Ahn, Joo Wook

AU - Berry, Ian

AU - Cassidy, Emma Jane

AU - Durkie, Miranda

AU - Fish, Louise

AU - Hall, Richard

AU - Howard, Emma

AU - Rankin, Julia

AU - Wright, Caroline F.

AU - Deans, Zandra C.

AU - Scott, Richard H.

AU - Hill, Sue L.

AU - Baple, Emma L.

AU - Taylor, Robert W.

AU - Baty, David

AU - Berg, Jonathan

AU - Blair, Edward

AU - Bowdin, Sarah

AU - Bownass, Lucy

AU - Bradley, Therese

AU - Campbell, Jennifer

AU - Charlton, Ruth

AU - Clouston, Penny

AU - Constantinou, Panayiotis

AU - Cooper, Nicola

AU - Delon, Isabelle

AU - Downes, Kate

AU - Ellis, David

AU - Elmslie, Frances

AU - Ghali, Neeti

AU - Hagan, Richard

AU - Heggarty, Shirley

AU - Higgs, Jennifer

AU - Hunt, David

AU - Jenkins, Lucy

AU - McAnulty, Ciaron

AU - McCann, Emma

AU - McDevitt, Trudi

AU - McMullan, Dominic

AU - Miedzybrodzka, Zosia

AU - Moore, David

AU - Newman, William

AU - Thomas, Simon

PY - 2024/11/25

Y1 - 2024/11/25

N2 - 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.

AB - 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.

KW - Genetic Testing

KW - Genetics

KW - Genomics

UR - https://www.scopus.com/pages/publications/85205480367

U2 - 10.1136/jmg-2024-110228

DO - 10.1136/jmg-2024-110228

M3 - Article

C2 - 39327040

AN - SCOPUS:85205480367

SN - 0022-2593

VL - 61

SP - 1103

EP - 1112

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 12

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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