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Professor Sir Mark Caulfield: Placing participants at the heart of genomics in the UK

 |  Research  |  Participants

I look back in awe over these past 5 years and the extraordinary journey the Participant Panel and Genomics England have taken together, through both the 100,000 Genomes Project, and the establishment of the NHS Genomics Medicine Service. Awe, because I hold the enduring memory of the inspiring contribution each of the Panel have selflessly made on behalf of your fellow participants, to ensure the success of the programme. The Participant Panel have tirelessly kept the interests of the wider participants in the forefront of our minds at Genomics England and NHS England. It was Viv Parry who led the drive to establish the Participant Panel and many of us then supported not just the panel, but the inclusion of the members as our most important stakeholders in several of our committees.

The first eighteen months of Genomics England were about establishing the infrastructure, getting the NHS ready and building the pipelines needed to deliver the 100,000 Genomes Project. During this early period we did various consultative pieces of work with stakeholders, patients and the public but the Participant Panel brought the lived experience of these problems and very positively challenged the project and our thinking. I can absolutely confirm that each of you have changed our thinking and helped improve the outcome. Although we would have benefitted from your wisdom earlier it was really only from 2015 onward that we were able to enrol to the 100,000 main programme so you have had huge impact for the entirety of the participants.

Personally, I have learnt a lot from each of the Participant Panel and have really welcomed how you have probed our progress, tuned our approaches, and most importantly, acted as ambassadors for all of the participants. For example, when we experienced delays in securing your health data you wrote on behalf of the participants and within 24 hours Genomics England had secured agreement to provide the data. As a result, we hold over 3.8 billion clinical data-points on 90,000 people today which is helping us to discover more answers for patients.

The poignancy of your personal stories you so willingly shared with the Genomic Medicine Centres (GMCs) resonated with the health professionals across the NHS and sent them back to their hospitals inspired to address the unmet need that you highlighted so well. At the American Society of Human Genetics Jillian Hastings Ward did the most brilliant personal presentation to a room full of geneticists. It was here that Jillian discovered that she was one of only two participants attending the world’s leading genetics conference amongst thousands of geneticists!

Your partnership has brought participant interests to the foreground around return of results, communication of results, re-analysis and additional findings. You take such care representing patients such as recently challenging us on the list of additional findings we will feedback to participants shortly. I have so valued your input and encourage you to question us, because as people living with these problems you bring a different perspective to the table that we may not have.

You have worked tirelessly across our committees, determining access to your data for research by academics and industry, making hugely valuable input into the review of progress by researchers and industry and supporting the Ethical framework for Genomics England. As a result of your contribution and that of the participants, the NHS has a new Genomic Medicine Service that will offer equitable access to genomic testing, with annually updates to the test directory and over the next 5 years 500,000 whole genomes for patient care. It doesn’t get much better than that.

On this 5th anniversary of the Genomics England Participant Panel I offer my deepest thanks to each of you and all the participants of the 100,000 Genomes Project and the NHS Genomic Medicine Service. Researchers across the world will continue to work on your data and, inspired by you and your stories, I will ensure that the value of your contribution is maximised, and that of the 90,000 other people you represent, to maximise the benefit for patients.

I firmly believe we are entering an era where genomics will be at the forefront of healthcare. Each of you and the 100,000 Genomes Project Participant have played a vital part in transforming genomic healthcare forever, starting in this small island but eventually for this will reach the whole of humanity.

I cannot thank each of you enough for your extraordinary contribution and keeping the participants’ voice at the heart of all we do! I look forward to watching you as you continue to change genomics in healthcare.

Professor Sir Mark Caulfield is Chief Scientist for Genomics England.

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