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Brighton & Sussex Medical School

EPPiGen

EPPiGen

The ‘Ethical Preparedness in Genomic Medicine’ (EPPiGen) project is a large mixed-methods study run from Brighton and Sussex Medical School (BSMS) and the University of Oxford's Clinical Ethics, Law, and Society (CELS) group. The project is derived from a £1.2M Wellcome Trust Collaborative Award in Humanities and Social Science (2017-2025) (grant number: 208053/A/17/Z).

The project is examining how the promise and challenge of genomic medicine is understood and experienced by those providing and engaging with the service and aims to produce a rich and nuanced account of the ethical issues relating to genetic and genomic interventions within the NHS. 

A plastic molecular modelling kit

What is ethical preparedness? 

We describe ethical preparedness as ‘a state [for identifying and articulating] ethical issues in a timely and ongoing manner’ with the tools and skills to address them’. Rather than focusing on compliance, an ethically prepared approach encourages professionals to develop skills to consider ethical issues with confidence and calls on organisations to prioritise the time and space for quality ethical discussion and deliberation within day to day practice. 

You can read more about the concept of ethical preparedness in this article published in the Journal of Medical Ethics by Professor Bobbie Farsides and Professor Anneke Lucassen – the co-principal investigators of the EPPiGen project.

White connected three pointed mesh, close up, creating a pleasing pattern

Why ethical preparedness?

Over a long period of time researchers at BSMS have been interested in the experience of health care professionals and medical scientists operating in what has been called ‘ethically contested areas.' Across a series of projects funded by the Wellcome Trust, ESRC and NIHR work has focused on areas such as stem cell medicine, fetal medicine, antenatal screening and testing, embryo research and organ donation. In the field of Global Health BSMS researchers have a long-standing interest in what is entailed in preparing researchers and communities to work together conducting medical research in resource-poor settings. 

In the course of this research, it has become clear that speaking to practitioners about the ethical challenges of their work often awakes in them a desire to become more prepared in future. Unfortunately, the reverse of this is sometimes the expression of regret that they were not sufficiently prepared for the challenges of new technologies and/or therapeutic options bring with them.

At the same time, bioethics as a discipline attempts to keep one step ahead of the science anticipating the ethical issues often long before something arrives in the clinical setting. However, there is a potential for a theory-practice gap such that the things bioethicists worry about might not travel into the clinical setting or when they do they may be revealed as not being the same things practitioners are worried about. 

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Why genetics and genomics?

The rapid advances in genomic technology have been well documented, as has the potential for genomics to lead to important improvements in our understanding of health and the diagnosis and treatment of disease. The consequences for healthcare practices, systems, professionals and patients, and their ability to assimilate these changes, has been given less consideration. 

Achieving the benefits promised by genomics will require significant changes in the ways in which healthcare is understood, organised and practised. Our previous research, and our activities on national bodies involved in the design and delivery of 100,000 Genome Project and now the mainstreaming of genomics within the NHS (for example, Genomics England Ethics Advisory Committee and the British Society of Genetic Medicine), has reinforced our belief in the need for a good degree of ethical preparedness.  

We believe that any bid to promote or improve ethical preparedness will benefit from health professionals having access to a detailed understanding of what it means to be part of a genomic project from a patient perspective and how those people live their everyday lives outside the health care setting. Although ‘genomics patients’ may have very different illness experiences and treatment trajectories, what they will share is the experience of being patient/research participants in a context that is inextricably bound up with that of their genetically significant others.

Digital image of a large DNA structure floating over the globe

Our research

Since 2020 researchers at Brighton and Sussex Medical School have been working in partnership with families in the UK affected by rare genetic conditions to explore different ways of creating representations, stories, and conversations about their experiences of healthcare. Our aim has been to understand their hopes, expectations, and worries, and to provide an outlet for reflecting on what everyday life is like at a time when so much focuses on the promise of genomic medicine. In doing so, we have hoped to be able to prompt healthcare professionals to be more prepared and understand what it means to access genomic healthcare services from a patient perspective. 

A vital aspect of the project at BSMS has involved combining rigorous empirical social science research with artistic, creative, and participatory approaches. Our participants have shaped our research throughout, guiding the development and approach to asking questions, employing methods, and finding strategies for dissemination. The goal throughout this process has been to empower participants to share rich, vivid, and affective creative artefacts that might challenge, reveal, and provoke understandings of the experiences of families affected by rare conditions. The project has drawn on a variety of diverse creative methodologies to help ensure that the project should speak ‘with’ rather than ‘for’ users of genomic services. Participants have explored telling their stories through creative writing, stop-motion animation, collage, poetry, and mail art. Each creative medium has offered something new, both experientially and in terms of the outputs generated, with work being performed, displayed, and discussed at stakeholder events internationally. 

You can find a number of outputs from the project listed below.

Creating impact

Alongside developing academic outputs, the EPPiGen project at Brighton and Sussex Medical School has also had a focus on developing impact through sharing powerful stories and prompting new conversations. The creative and participatory work from the project has been widely disseminated and used as a tool to support and inform healthcare professionals, offering invaluable insights to organisations planning and providing care for families affected by rare disease.

One example of this is Helix of Love, a collection of poems written and co-produced with parents of children with rare genetic conditions exploring the lived experience of rare disease.

A purple background with white writing reading helix of love and a heart with dna in the middle

Read Helix of Love here >

The poems in the collection challenge representations of disability by centring human stories, identities, and emotions juxtaposed against the more dispassionate prose of clinical language and understandings. Helix of Love has received critical acclaim from stakeholders across the genomics sector. It has become part of library and museum collections, and was incorporated into the NHS-led International Genomics Education and Training Summit in November 2023 where it was distributed as a training resource to delegates from 49 countries. Since then, we have received requests from genomics programmes around the globe to use Helix as ways of embedding a focus on patient and family experiences of rare disease.

You can find out more about Helix of Love here.

BACKGROUND IMAGE FOR PANEL

Research repository

The following research papers have emerged directly from the EPPiGen research conducted at Brighton and Sussex Medical School:

  • Farsides, B., & Lucassen, A. M. (2023). Ethical preparedness and developments in genomic healthcare. Journal of Medical Ethics. https://doi.org/10.1136/jme-2022-108528 
  • Gorman, R., & Farsides, B. (2022). Writing the worlds of genomic medicine: Experiences of using participatory-writing to understand life with rare conditions. Medical Humanities, 48(e4). https://doi.org/10.1136/medhum-2021-012346 
  • Gorman, R., Farsides, B., & Bonner, M. (2023). Crafting representations of rare disease: Collage as qualitative inquiry. Arts & Health, 16(3), 285–302. https://doi.org/10.1080/17533015.2023.2254328 
  • Gorman, R., Farsides, B., & Gammidge, T. (2022). Stop-motion storytelling: Exploring methods for animating the worlds of rare genetic disease. Qualitative Research, 23(6), 1737–1758. https://doi.org/10.1177/14687941221110168 
  • Mwale, S., & Farsides, B. (2021). Imagining genomic medicine futures in primary care: General practitioners’ views on mainstreaming genomics in the National Health Service. Sociology of Health & Illness, 43(9), 2121–2140. https://doi.org/10.1111/1467-9566.13384 

You can find out about the research papers published by our EPPiGen colleagues and collaborators from the University of Oxford's Clinical Ethics, Law, and Society group here.

You may also be interested in the research papers that were foundational in leading to the funding of the current EPPiGen project:

  • Dheensa, S., Samuel, G., Lucassen, A. M., & Farsides, B. (2018). Towards a national genomics medicine service: The challenges facing clinical-research hybrid practices and the case of the 100 000 genomes project. Journal of Medical Ethics, 44(6), 397–403. https://doi.org/10.1136/medethics-2017-104588 
  • Samuel, G., & Farsides, B. (2018). Public trust and “ethics review” as a commodity: The case of Genomics England Limited and the UK’s 100,000 genomes project. Medicine, Health Care and Philosophy. https://doi.org/10.1007/s11019-017-9810-1 
  • Samuel, G. N., Dheensa, S., Farsides, B., Fenwick, A., & Lucassen, A. (2017). Healthcare professionals’ and patients’ perspectives on consent to clinical genetic testing: Moving towards a more relational approach. BMC Medical Ethics, 18(1), 47. https://doi.org/10.1186/s12910-017-0207-8 
  • Samuel, G. N., & Farsides, B. (2017). The UK’s 100,000 Genomes Project: Manifesting policymakers’ expectations. New Genetics and Society, 36(4), 336–353. https://doi.org/10.1080/14636778.2017.1370671 
  • Samuel, G. N., & Farsides, B. (2018). Genomics England’s implementation of its public engagement strategy: Blurred boundaries between engagement for the United Kingdom’s 100,000 Genomes project and the need for public support. Public Understanding of Science, 27(3), 352–364. https://doi.org/10.1177/0963662517747200 
Oxford team
Prof Anneke Lucassen Headshot

Prof Anneke Lucassen, Co Principal Investigator

Susie Weller profile photo

Dr Susie Weller

Kate Lyle profile photo

Dr Kate Lyle

Further information on the rest of the Oxford Clinical Ethics, Law, and Society team > 


External collaborators 

Dr Mark Bale, Head of Science Partnerships, Genomics England

Prof Angus Clarke, Professor of Clinical Genetics, Institute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University

Prof Heather Draper, Professor of Bioethics, Warwick Medical School University of Warwick

Dr Nina Hallowell, Associate Professor, Wellcome Centre for Ethics and Humanities and Ethox Centre, Nuffield Department of Population Health, University of Oxford

Dr Jeantine E. Lunshof, Philosopher, Ethics, Research Scientist, MIT Media Lab, Cambridge, USA. Consultant Department of Genetics - Church lab, Harvard Medical School. Assistant Professor, University of Groningen, The Netherlands

Prof Jonathan Montgomery, Professor of Healthcare Law University College London

Dr Ainsley Newson, Associate Professor of Bioethics and Deputy Director at Sydney Health Ethics, University of Sydney, Australia

Prof Michael Parker, Director of The Wellcome Centre For Ethics and Humanities, and The Ethox Centre, University of Oxford

Prof Bronwyn Parry, Professor of Global Health and Social Medicine, Department of Global Health and Social Medicine, Kings College London

Prof Chantal Simon, Visiting Professor, University of Westminster, Medical Director for Professional Development, Royal College of General Practitioners, Programme Lead, Dorset Physician's Associate School, University of Bournemouth

Prof Philip Stratton-Lake, Prof of Moral Philosophy, University of Reading

Prof Steve Sturdy, Professor of Sociology of Medical Knowledge, University of Edinburgh

Dr Irene van Langen, Professor of Clinical Genetics, University Medical Centre, Department of Genetics, University of Groningen, The Netherlands

Prof Marian Verkerk, Professor of Ethics of Care, Faculty of Medical Sciences, University of Groningen, The Netherlands

Prof Clare Williams, Honorary Professor of Medical Sociology, Dept of Social Sciences, Media & Communications, Brunel University London 

Katharine Wright, Assistant Director, Nuffield Council on Bioethics

Contact us

If you have any questions or would like to learn more about the Ethical Preparedness in Genomic Medicine project, please get in touch with Dr Rich Gorman:

E: R.Gorman@bsms.ac.uk