Driving better diagnostic discovery for patients with Rebecca Middleton, vice chair of the participant panel at Genomics England

The impact of genomics on global healthcare is one to watch. Genomic testing is improving the diagnosis and treatment of diseases including cancer, genetic and infectious diseases; driving the delivery of more personalised care.

In 2018, Genomics England reached the goal of sequencing 100,000 genomes and now holds the largest global research collection of whole genome sequences from patients with cancer and rare diseases. While the company,  owned by the Department of Health and Social Care, continues its quest for diagnosis for the participants of its ’National Genomic Research Library’, it aims to launch a new research study in 2023 exploring the use of whole genome sequencing to find and treat rare genetic conditions in newborn babies and support vital healthcare research. Clearstate expects the UK’s clinical next-generation sequencing (NGS) market to grow at an estimated average of 8% annually from 2023 to 2026.

We speak with Rebecca Middleton, chief executive and founder of  Hereditary Brain Aneurysm Support, and vice-chair of the participant panel at Genomics England in the first of a two-part interview on the work at Genomics England where they work to co-design research projects with the public and participants that puts Genomics England in a stronger position to deliver ground-breaking research and better diagnostic discovery for its participants.

Could you share more about your work with the participant panel at Genomics England?

Since the 100,000 Genomes Project was announced in 2012, the genomics landscape has changed considerably. The UK government’s Genome UK has set out a genomics strategy for the next decade. There is now an NHS Genomic Medicine Service in England and the vibrant ecosystem of genomics companies and organisations envisaged at Genomic England’s inception has come to fruition. During this time, the Participant Panel has played a key strategic role in Genomics England’s development and through its wider engagement and continues to support its core initiatives and programmes as well as the ongoing governance of our data.

The Participant Panel was founded in 2016 and since then it has embedded itself at the core of Genomics England. The principal focus of the independent participant panel remains, as it has always been: holding Genomics England to account for the safeguarding of our data, and how the data is used for the benefit of participants and the wider patient community. In addition, the Participant Panel has made a material difference to many families by ensuring that lived experience has been included in decision-making within Genomics England and more widely, pursuing results and how they were received, developing networks, involving participants in the day-to-day life and work of Genomics England and its staff, and much more.

What are some initiatives you have been working on at Genomics England?

The Participant Panel has an oversight role on all of Genomics England current core projects including Cancer 2.0, Newborn Genomes Programme and supporting the NHS Genomics Medicine Service. We are also keen to foster relationships with the research community to better connect them with participants’ lived experience as well as their data. We want to support and facilitate the use of data, curated by Genomics England on participants’ behalf, in the National Research Genomics Library to ensure it’s being used by researchers in the most beneficial way. 

How does the participant panel engage with patients and bring patient experiences into improving the design of future genomic services?

The Panel is comprised of representatives from the rare disease and cancer communities, and we all have consented to share our data within the National Research Genomic Library. This is a key pillar of our membership and ensures we are personally invested. We are here as an advisory team, not a delivery team. This is a critical distinction that allows us independence and authenticity.

At Genomics England, Participant Panel members sit on the Ethics Advisory Committee, the Access Review Committee and the Genomics England Clinical Interpretation Partnership (GECIP), actively deciding or advising how our data should be used. We see this as an essential role. We push to ensure that meaningful engagement has been conducted as part of research proposals, and lived experience is always considered as part of the design process.  It ensures that decisions about health data remain close to the people whose data is affected. It helps the wider participant community to have confidence that Genomics England has their interests at heart and individual Panel members learn a lot through their interactions with scientific and clinical leads who they would otherwise never meet. 

Across our work, there are many examples of where we have had a meaningful impact on genomic services. For example, the Panel Chair has advised NHS England’s Genomic Medicine Service (GMS) about setting up an equivalent structure to ensure that patients and their families are heard in decisions about how the GMS is run. As part of this, she wrote the draft Terms of Reference for the group that has become the GMS People and Communities Forum, and which brings together the leading regional and national ‘Public and Patient Voices’ on a quarterly basis. I and other panel members have also taken considerable time to advise various regional Genomic Medicine Service Alliances about how they can best embed their participant representatives in their own leadership structures.

I’m also currently supporting the Newborn Genomes Programme, led by Genomics England in partnership with the NHS, and bring my experience as a mother, a rare disease patient and a communications specialist to the steering committee where I am joined by other patient representatives. I’m heartened by the central principle of co-design in developing the study and I’m able to see first-hand how diverse life experiences and public/patient insights manifest in the study and will continue to do so through wider public involvement, in an iterative manner.

As a panel, we also recognise that there are currently few opportunities for patients and research participants to meet the genomics researchers who use their data to make discoveries.  We wanted to bridge that gap, to allow researchers to present their work to the patient community and enable patients and families to ask questions.

In early 2022, the Panel recognised the importance of getting the language right when engaging with patients, research participants and their families. Through our own experience and that of our networks, we were acutely aware of the power of language and its impact on families going through a genetic or cancer diagnosis. This was distilled into a Language and Terminology Guide published in May 2022, for anyone working in the genomics and healthcare industry. 

Hear more from Rebecca Middleton at the Cell and Gene Therapy Summit by the Economist Impact on 24-25 April 2023 in Brussels.

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