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The University of Southampton
Clinical Ethics and Law at Southampton

Research project: Ethical Preparedness in Genomic Medicine (EPPiGen)

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EPPiGen is a Wellcome Trust Collaborative Award in Humanities and Social Science, jointly held by CELS and Brighton and Sussex Medical School. This research takes places as genomic approaches to diagnosis and treatment become embedded within the UK health care system, providing a unique opportunity to examine how the promise and challenge of genomic medicine is understood and experienced by those providing and engaging with the service. This five-year programme will combine empirical bioethics research, conceptual and theoretical analysis, and professional and public engagement to examine the concept of ethical preparedness in the context of genomic medicine. Genomic medicine uses broad (rather than targeted) genomic information about an individual as part of their clinical care. We define ethical preparedness as the ability and willingness to work in morally-appropriate ways, even within emerging, rapidly-changing, and complex fields such as genomic medicine.

EPPigen

Why genetics and genomics?

The rapid technological advances in genomic medicine 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 readiness and preparedness of the health service and professionals within the field to assimilate these changes, and deliver care to patients in an ethically defensible way has received less attention.

Genomics presents both highly technical innovation, and a new vista of medically focussed relationships for health professionals to consider and navigate. The affordable availability of detailed readouts of a whole genome sequence (WGS) may indeed help guide diagnoses and treatments, but it might also lead to us to gathering and storing information we are unused to interpreting, sharing, or maybe even justifying. Whilst this is often represented as a temporary problem that will be solved by the development of bio-informatic algorithms and tools for interrogation of the genome, this ignores inherent genomic complexity, as well as the epigenomic and multifactorial influences in most diseases. Identifying a disease related genomic factor may be only one piece of a jigsaw puzzle that does not predict much, if anything, about the final picture, and whose remaining pieces cannot be found simply by cheaper and faster genomic analyses or improved technology. Health services need to be prepared to face new challenges born of the complexity, uncertainty and longevity of the clinical encounter in this field. Therefore, achieving the benefits promised by genomics will require significant changes in the ways in which healthcare is understood, organised and practised such as:

  1. The need for a greater degree of integration of, and complementarity between, healthcare, medical research and innovation than is currently routine.
  2. The need for large-scale collection, storage and appropriate sharing of information, across traditional boundaries (both geographical and familial) posing new challenges for practice.
  3. The acknowledgement that a faster pace of change and learning in genomics than in many other areas of medicine will require staff to deal with a greater degree of uncertainty, open-endedness and future proofing and to adapt healthcare relationships accordingly.  

 

Ethical preparedness

Our interest in ethical preparedness has grown out of practical, clinical and academic experience. This project will attempt to construct an understanding of ethical preparedness which draws upon empirical and theoretical bioethics practice in the interests of serving practitioners and ultimately patients. Using genomics as a timely case study the various work packages will contribute in different ways to building this concept into something which could be useful in this and many other settings.

Our hypothesis is that in order to facilitate ethical preparedness in the context of clinical practice there needs to be a significant and effective cross-fertilisation of ideas between those who are ‘doing the work', those for whom the work is being done, and those who theorise or conceptualise about it.  In turn, there needs to be a clear line of communication between these groups and those charged with creating policy and guidance, understanding of course that all these groups may well overlap in terms of membership.

Research approach

Using three interlinking work streams we will research ethical preparedness in genomic medicine

Work Stream One: Empirical Bioethics

Through a series of interconnected studies this work stream will focus on the beliefs, attitudes and experience of staff in laboratories and clinics and will focus on ethical preparedness (at an individual and structural level) to deliver whole genome analyses in practice. It will also capture the patient/ participant perspective with a view to informing and preparing practitioners for future interactions.

Capturing observed and self-reported ethical preparedness in the workplace utilising methodology developed across a range of successful projects, we will undertake a qualitative research to capture the views attitudes and behaviours of health professionals and scientists operating within genomic medicine with the initial aim of establishing the degree to which and how (if at all) ‘ethical preparedness’ figures in practitioners’ accounts of contemporary genomic medicine. We will concurrently conduct research with patients to establish their level of ethical preparedness, but also importantly to inform our work with practitioners

Methods:

  1. An observational study of groups of professionals and the spaces within which genomic medicine is constructed and delivered.
  2. In depth interviews with practitioners involved in the delivery of genomic medicine.
  3. Ethical Discussion Groups with practitioners.
  4. Concurrent in depth interviews with specific patient/ participant groups engaged in genomic medicine.
  5. Testing and amplification of the emerging findings generated from 1-4 above through engagement with for example, Genethics UK, and the Genomics England Clinical Interpretation Partnership (GeCIP)

Work stream Two: Constructing sound conceptual and theoretical

At the core of this project is the concept of ethical preparedness which we plan to develop and make conceptually robust. In this work stream we will be undertaking theoretical and normative analysis based on data from our empirical work. As the data comes through we will be looking for concepts and claims which need philosophical clarification and/or examination. We anticipate that our work could sometimes challenge the professionals’ presentation of the ethical issues and raise questions about their habitual responses so we will take every opportunity to support a productive iterative process.

If we wish practitioners to generate bespoke ethical responses to the particular (and complex) needs of patients and families seeking genomic diagnoses we need them to have the courage and the confidence to do so, and to understand and become sensitive to the moral salience of particular facts in a clinical setting. We will support practitioners by providing robust ethical analysis which speaks to clinical concerns.

We will use our empirical data as a hook and a guide, but we will also move beyond our data and use our analytical skills and conceptualising abilities to explore what is happening when ethical preparedness appears lacking, where professional understandings of what is or is not ethical are out of tune with compelling accounts in the formal literature and why this might be so, or to offer theoretical or conceptual insight where practitioners have become ‘stuck’ due to a lack of conceptual clarity or confusion.

Over the course of the project we will hold four two day workshops focussing on the normative and conceptual issues raised by our empirical work and on-going interrogation of the bioethics literature.

Work Stream Three: Enhancing Practice Development through Professional Engagement

The findings from our empirical research will be melded with our study of the theoretical philosophical and social scientific work in the field to reveal overlaps, amplifications, triangulations, absences, silences and contradictions. As our findings emerge genomics practitioners will continue to inform and critique the work we produce, as they become exposed to ideas that could either challenge or reinforce their current practice and shared beliefs.

Through our interactions with the GeCIP programme for Practical Ethics the Genethics Forum and the ethics and policy committee of the British Society of Genetic Medicine, we will build upon and capture responses to our empirical findings and conceptual work and further examine the ethical preparedness of health professionals. Over time, we will launch and establish an identity as Genethics-UK by building on and drawing together the existing activities we co-organise and facilitate. Additional activities will include hosting regular meetings and support an online and social media presence and encouraging and moderating public discussions, which will serve to triangulate and enhance our research findings and effectively disseminate them to major stakeholders.

Workstream
Workstream

For more information please contact Dr Kate Lyle  or Dr Susie Weller

Meet our team:

Dr Kate Lyle

Dr Kate Lyle

Senior Research Fellow - University of Southampton

Meet the BSMS Collaborators:

Our 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, Professor of Moral Philosophy, University of Reading

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

Prof 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 

Dr Katharine Wright, Assistant Director, Nuffield Council on Bioethics

EppiGen news!

EPPiGen news!

Prof Anneke Lucassen presented at the Ethox Seminar, Oxford

News
NHS long term plan

EPPiGen news!

EPPiGen’s response to NHS long term plan

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