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Hunter et al. J Transl Genet Genom 2023;7:17-26 https://dx.doi.org/10.20517/jtgg.2022.19 Page 21

Hunter et al. J Transl Genet Genom 2023;7:17-26 Journal of Translational
DOI: 10.20517/jtgg.2022.19
Genetics and Genomics

Opinion Open Access

Public and patient involvement in research to
support genome services development in the UK

3,4
5
3,4
2,3
Amy Hunter 1 , Celine Lewis , Melissa Hill , Lyn S. Chitty , Kerry Leeson-Beevers , Hannah McInnes-
7
8
7
Dean 3,4,6 , Kate Harvey , Amanda Pichini , Elizabeth Ormondroyd , Kate Thomson 9
1
Genetic Alliance UK, London E17 6DS, UK.
2
Population, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
3
NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust,
London WC1N 3BH, UK.
4
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
5
Alstrom Syndrome UK, Torquay TQ2 7GD, UK.
6
Antenatal Results and Choices, London W1H 1LX, UK.
7
Newborn Genomes Programme, Genomics England, London E14 5AB, UK.
8
Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU UK.
9
Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
Correspondence to: Dr. Amy Hunter, Genetic Alliance UK, Creative Works, Blackhorse Lane, London E17 6DS, UK. E-mail:
amy.hunter@geneticalliance.org.uk
How to cite this article: Hunter A, Lewis C, Hill M, Chitty LS, Leeson-Beevers K, McInnes-Dean H, Harvey K, Pichini A,
Ormondroyd E, Thomson K. Public and patient involvement in research to support genome services development in the UK.
J Transl Genet Genom 2023;7:17-26. https://dx.doi.org/10.20517/jtgg.2022.19
Received: 19 Oct 2022 First Decision: 24 Nov 2022 Revised: 17 Jan 2023 Accepted: 30 Jan 2023 Published: 7 Feb 2023
Academic Editors: Brian Hon-Yin Chung, Kelvin Y. K. Chan Copy Editor: Fangling Lan Production Editor: Fangling Lan
Abstract
Public and patient involvement (PPI) - the collaboration in research with members of the public and patients with
relevant experience - is becoming well established in health service research in the UK. It is supported by funders
and academic institutions. Published principles and guidelines for researchers, developed through consultation and
consensus building, are available. Meanwhile, as genome sequencing is adopted into routine health care,
translational genomics research and research to evaluate new genomic services are growing. Given the ethical and
social implications of offering genome sequencing within a national health service, it is important that researchers
give full consideration to planning and implementing meaningful PPI. Here we present five case studies of PPI in a
variety of clinical genomic studies, including commentary on positive impacts and suggestions for improvements.
We call for funders and academic institutions to continue and increase their efforts to enable and promote PPI
across genomic and other health service research.

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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