By Aiden Hannah, Research Analyst, Deloitte Centre for Health Solutions

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I recently had the privilege of attending the Genomics England Research Summit 2022 (Summit), a flagship event exploring cutting edge research advances and challenges in the field of genomics.1 The conference hosted 1,000 delegates in person at the Business Design Centre in London, and a further 2,000 delegates online, with over 75 distinguished speakers sharing their knowledge from across the genomics ecosystem. Throughout the event, the exciting potential for this technology to transform diagnosis and improve patient outcomes by bringing together healthcare and research was evident.  Strong partnership working across the ecosystem, across device manufacturers and pharmaceutical companies, clinicians and policy makers have been, and will continue to be, central to this transformation. This blog explores the crucial partnership between researchers and research participants and presents my take on the key role of these relationships in shaping the future of genomic medicine.

‘Every data point has a face’


As described in a previous blog, How genomics is transforming healthcare in the UK, the UK is currently at the centre of the ‘golden age’ of genomics. The landmark 100,000 genomes project, led by Genomics England, resulted in the inception of the NHS Genomic Medicine service in 2018 and the NHS becoming the first national healthcare provider in the world to routinely offer whole genome sequencing to patients.2 This unique approach to sequencing such a large number of whole genomes provided ground-breaking insight into the fields of rare diseases and oncology, with 18.5 per cent of data providing actionable insights.3 Furthermore, this data enabled the creation of the National Genomic Research Library, a secure resource for researchers that combines patient health data with genomic data to benefit future generations.4 The database currently contains 118,000 genomes and over 90,000 matched clinical datasets.5

De-identified datasets such as these are invaluable and will undoubtedly unlock new discoveries for researchers and ultimately improve patient outcomes for years to come. However, as one speaker at the Summit stated, ‘every data point has a face’. It is important to remember that behind each of these genomes lies a willing study participant, who has agreed to share their data. Acknowledging this fact is crucial when considering current and future policies around the privacy and security of research data, including who controls and owns such data.

The independent Participant Panel at Genomics England


A vital advisory group at Genomics England is the independent Participant Panel, a diverse group of participants whose data is contained within the National Genomic Research Library. The Panel’s mission is to ’bring research participants' lived experience and perspectives into decisions about participant data, services, and healthcare‘.6 Since its formation in 2016, the Panel has ensured that participant’s interests are at the core of board-level decisions across Genomics England by advising on matters such as:

  • how research data is accessed and used
  • the design of genomic services
  • examining ethical issues across projects.

The Panel’s ‘Language and Terminology Guide’ was given to Research Summit attendees and is available online, providing just one example of their valuable output.7 The guide outlines principles and recommendations for how research participants would like to be treated and referred to. This insight highlights the importance of mutual respect and valuing everyone’s unique contributions. Participant diversity and equity of access to research are fundamental issues across all fields of healthcare research. Genomics England’s ‘Diverse Data Initiative’ acknowledges the bias in existing genomic datasets towards individuals of European ancestry and is attempting, proactively, to gain more diverse reference data so that personalised medicine is accessible and relevant to all patients.8 Steps such as these to promote inclusion and participant diversity will ultimately improve the quality of the research output.

Co-production in current genomics research


The Newborn Genomes Programme, which is currently in the design and testing stage, was the subject of many discussions at this year’s Summit. This NHS research pilot is scheduled for launch in mid-2023.9 By sequencing 200,000 babies’ genomes, this programme aims to assess the feasibility of providing whole genome sequencing to all newborns in the UK, resulting in improved knowledge of and treatments for genetic conditions.

A fundamental component of this project is the significant involvement of members of the public in the co-design of the research.10 Genomics England are engaging with parents and the public on multiple aspects of the project, for example dialogue with 130 members of the public helped inform the programme’s vision document.11 Furthermore, insightful presentations given at the Summit showcased the ethnographic research and parent workshops that have supported the design of the recruitment process, from the co-design of posters to sharing views on the timings of being approached about the study.

A crucial aspect of this project is the selection of conditions that will be screened for; Genomics England are currently asking for public views on the principles used to decide the selection.12 This is a multifaceted societal and ethical problem, with a major consideration being the ability to treat the condition detected. Furthermore, such open consultations are giving the public and prospective research participants an opportunity to actively participate in the design of a research study that is aligned with their own values and needs.

Conclusions


The strong collaboration, communication and transparency between researchers and the public demonstrated in this research field not only sets a strong precedent for Genomics England’s future projects, but also for clinical research more broadly. The meaningful involvement of diverse research participants at an early stage has emerged as a vital factor in promoting equitable access to research and, ultimately, equitable access to improved patient outcomes.

 

LSHC blog 3 Dec author

Aiden Hannah, Research Analyst

Aiden has a background in physics and biomedical engineering, and a strong technical knowledge of diagnostics and digital healthcare. Most recently working as an academic researcher, he undertook a range of multidisciplinary projects involving close collaborations between MedTech companies and clinicians; supporting the development of novel biosensors and low-cost diagnostics, including clinical trial design and conduct. Aiden has focused on the health technology investment pipeline and the medical device regulatory processes as part of his doctorate industry placements.

Email | LinkedIn

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1 https://www.genomicsresearchsummit.co.uk/

2 https://www.genomicsengland.co.uk/news/the-100000-genomes-project-by-numbers

3 https://www.genomicsengland.co.uk/about-us/origins

4 https://www.genomicsengland.co.uk/research/research-environment

5 https://research-help.genomicsengland.co.uk/pages/viewpage.action?pageId=66846734

6 https://www.genomicsengland.co.uk/patients-participants/participant-panel

7 https://s3.eu-west-2.amazonaws.com/ge-production-s3/documents/Genomics-England-Language-Guide.pdf

8 https://www.genomicseducation.hee.nhs.uk/blog/new-data-diversity-initiative-launches/

9 https://www.genomicsengland.co.uk/initiatives/newborns

10 https://www.genomicsengland.co.uk/initiatives/newborns/engagement

11 https://s3.eu-west-2.amazonaws.com/ge-production-s3/documents/Newborns-Vision-Final_SEP.pdf

12 https://www.genomicsengland.co.uk/news/views-conditions-newborn-screening

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