EPPiGen’s response to NHS long term plan

The NHS Long-Term plan was published this week, and we were delighted to see the prominence given to genomics. The plan details ambitions for the NHS to become ‘the first national health care system to offer whole genome sequencing as part of routine care’. The immediate focus of this will be on children with cancer, all of whom will receive whole genome sequencing ‘to enable more comprehensive and precise diagnosis, and access to more personalised treatments’. We are pleased that this commitment will help to keep the UK at the forefront of clinical genomics, and our national health service, provides a great vehicle for large scale introduction of these innovative technologies into clinical practice.

If genomics is to become part of routine care, it is imperative that we develop a detailed understanding of the social and ethical challenges that this transformative mode of medicine will bring to practice. We are very grateful to the Wellcome Trust for funding our project Ethical Preparedness in Genomic Medicine (EPPiGen) to research this much overlooked area. EPPiGen is collaboration between the University of Southampton and Brighton and Sussex Medical School, which brings together a multi-disciplinary team to explore and facilitate the preparedness of those delivering and receiving genomic services to deal with the ethical and social challenges it raises.

Our research aims to look behind the headlines of genomic medicine, exploring what changes it might bring in practice and how we can ensure that patients and clinicians are ethically prepared for the challenges these new modes of working may bring. The dominant public discourses around genomic medicine follow a determinist narrative, suggesting that genomics will clearly delineate or refute genetic contributions. Yet in reality there is very limited evidence to date to support this (and limited circumstances in which this could be the case). Indeed, genomics is an excellent example of an area in which technological advances have outpaced our ability to understand what the findings mean for an individual patient, we are now in a position where we are generating masses of new and promising information, the implications of which we do not yet fully understand.

As promising as advances in whole genome testing are, it is imperative that we also hold its challenges, complexities, and ambiguities in the fore, and ask ourselves what is required to integrate it within routine care. The UK is seeing great advancements in research exploring the interpretation of genomic data and its relations to disease and treatment. Consequently, we need more clarity about the fact that research and clinical practice are more co-dependent than ever before; parents of a child with cancer will need to know that their main contribution in the immediate future will be taking part in this important research rather than its results impacting treatment or care immediately.

During EPPiGen’s five year programme of research we will explore how the ethical nuances of genomic medicine affect preparedness to deliver it in practice. We will do so from multiple perspectives, including the difficulties that laboratory technicians navigate to devise genetic results, the challenges for healthcare professionals in obtaining appropriate consent from patients, and the issues that patients face when it comes to sharing their results (and the associated implications) with family members. This timely research will provide much needed evidence that will help truly embed genomic medicine within the UK’s NHS. If you would to keep up to date with our progress please email cels@soton.ac.uk .