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Research participants: critical friends, agents for change

European Journal of Human Genetics volume 30, pages 1309–1313 (2022)Cite this article

This article describes how participants in large scale genomics projects can help to shape and steer them, on behalf of wider participant communities, based on the experience of the Participant Panel at Genomics England [1]. We can be ‘invited guests’ and we can be ‘gate-crashers’. The article identifies some transferable lessons that could be applied by those who seek to establish or develop large scale health research programmes in the future. It has been written entirely by Panel members.

Genomics England was established in 2013, with a mission to deliver the 100,000 Genomes Project in partnership with NHS England. This was to assess the value of whole genome sequencing as a mainstream health tool, for implementation in the wider NHS [2]. Initial findings have been encouraging: new diagnoses for 25% of participants with rare conditions, and ‘actionable results’ for around 50% of participants with cancer (adjustments to their treatment, and/or opportunities to join new trials) [3].

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Fig. 1

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Acknowledgements

The Panel would like to thank our families and friends for enabling us to do what we do; Prof Grand Dame Sally Davies, Prof Sir Mark Caulfield, Prof Mike Parker and Vivienne Parry for giving us the initial platform and the confidence that we belonged there; Ed Sherley-Price, our original Panel Chair; Panel members Kate Grafton, Alison Fox and Karen Carter who contributed to the workshop which led to this article; all the past members of the Panel including Julie Bartlett RIP; and everyone at Genomics England today, for driving forward our shared mission to make the benefits of genomic medicine available to all.

Funding

Honoraria are offered to any Participant Panel members by Genomics England, for the time they spend on Panel business. Claims are confidential. None of the authors are employees of Genomics England.

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Authors and Affiliations

  1. Participant Panel at Genomics England, London, UK

    Jillian Hastings Ward, Rebecca Middleton, David McCormick, Helen White, Ismael Kherroubi Garcia, Shelley Simmonds, Latha Chandramouli & Andrew Hart

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  1. Jillian Hastings Ward
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  2. Rebecca Middleton
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  3. David McCormick
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  4. Helen White
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  5. Ismael Kherroubi Garcia
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  8. Andrew Hart
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Contributions

All of the authors contributed equally to the initial workshop which informed this article, reviewed it, and submitted comments. JHW convened the workshop and drafted most of the article. RM, IKG and HW made substantial contributions to the text, alongside DMc who also provided the case study (Fig. 1).

Corresponding author

Correspondence to Jillian Hastings Ward.

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Competing interests

JHW is the independent Chair of the Participant Panel at Genomics England, a member of the UK National Genomics Board, and a founding Board Member of the CureGRIN Foundation. She also sits on the NHS Digital Research Advisory Group and is a lay adviser to Health Data Research UK. RM is the independent Vice Chair of the Participant Panel at Genomics England, and Founder and CEO of Hereditary Brain Aneurysm Support (CIC). DMc is a Lay Patient Representative to the MSc in Genomic Sciences, Manchester Academy for Healthcare Scientist Education (MAHSE) Patient Forum, and Interim Chair to the Patient & Public Voice Panel, North West Genomic Medicine Service Alliance. SS is a Trustee of Disability Rights UK, a member of the PPIE Panel of the North Thames Genomic Medicine Service Alliance, a lay member of the Neuromuscular North Star Clinical Network, a campaigner for the Changing Places Consortium and the founder of Fraser & Friends (Disability Rights & Rare Disease Advocate). LC is a community paediatrician, Sirona Care & Health.

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Hastings Ward, J., Middleton, R., McCormick, D. et al. Research participants: critical friends, agents for change. Eur J Hum Genet 30, 1309–1313 (2022). https://doi.org/10.1038/s41431-022-01199-3

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