Working together towards a best-practice approach to ethics in UK genomics

The use of genomics in healthcare and research is a continuously growing field, with more and more data being gathered, and new insights about the human genome being discovered and developed at a rapid pace. Genomics research promises to further our understanding of how our genomes work, with the aim of helping to improve diagnosis, treatment and prevention of certain diseases and conditions.

However, to reach this potential, there are many ethical considerations that must be addressed by everyone involved in shaping genomic healthcare and research: from the researchers who collect, access and use genomic data, to the clinicians who interpret and translate this data for their patients, and to the policymakers and governance bodies overseeing the field.

Currently, the way that genomics institutes (who collect, store and conduct research on human genomes) and other stakeholders (such as clinicians and policy makers) consider ethics can be very disparate. This lack of consistency can make it difficult for those working in this space to properly identify, address and navigate ethical issues appropriately and may perpetuate inequitable experiences for research participants and patients whose data are being used.

The UK government has committed to establishing a 'gold standard UK model' for how to apply strong and consistent ethical standards in genomics research and healthcare in the 2020 Genome UK strategy and the 2022 UK-wide shared commitment plan for implementation.

The development of a UK best practice approach for ethics in genomics healthcare and research is something that the Nuffield Council on Bioethics has subsequently explored alongside the UK Office for Life Sciences and genomics healthcare leads in Scotland, Wales and Northern Ireland. Our work includes a collection of case studies gathered via a 'call for evidence' on approaches to ethics across genomics healthcare and research, as well as two workshops with people working or researching the field of human genomics. Last week, we were pleased to share a summary report from our workshops and case studies.

What are the key ethical questions?

This exploration identified numerous ethical questions pertinent to genomics healthcare and research. Highlighted as at the forefront, are:

• achieving appropriate informed consent
• returning genomic results to research participants, patients and/or their families
• data privacy and data sharing
• inequalities in the experience of genomics
• understanding public perspectives
• avoiding hype
• considering commercial use of genomics and genomics beyond health.

Importantly, this list is not exhaustive and other ethical considerations exist. The ethical issues of most importance may depend on the context of any individual genomics healthcare or research endeavour. For example, it is important to recognise that different ethical issues may arise, or be more critical for public health screening, such as whole genomic sequencing of newborns, than they do for individual genomic testing of a patient for a rare disease.

Many of the ethical issues identified across genomics are not dissimilar to those across other areas of healthcare and research, and we can learn much from the discourse in the wider context of health and research ethics. However, in our discussions at the workshops it was agreed that, for our purpose, genomics merits independent ethical scrutiny as a result of the number of ethical issues identified, its pace of growth and its prominent positioning within UK medical science policy.

What are the challenges to addressing ethical issues?

Despite the clear identification of ethical issues, our work also highlights challenges to addressing these. Barriers include a lack of awareness about what ethics can offer, uncertainty over how ethics should be appropriately considered, and difficulties reaching consensus around resolving ethical issues. Although tools and resources do exist to support ethical genomics healthcare and research, it can be difficult to navigate these, which can lead to further confusion, inconsistency and duplication of efforts.

Taking account of this complexity, and of the significant ethical issues that were identified throughout our exploration, our new report suggests that a best practice approach to addressing ethics in genomics and healthcare in the UK would help, as long as appropriate steps are taken in its formulation. A best practice approach needs to be transparent, flexible and inclusive. In other words, it needs to be applicable in a variety of contexts, due to the wide remit of genomics in healthcare and research. It needs to be practical enough that it can make a positive difference, and it needs to be open enough to promote trust that genomics healthcare and research is appropriately considering ethics.

Although our work is focused on UK audiences, genomics is a global endeavour. Genomics institutes and the sharing of data and knowledge often span across borders. Additionally, humanity is interconnected by our genomes and so any genomics healthcare and research in the UK could have consequences elsewhere. This means that a UK best practice approach needs to be sensitive to the international context and be open to diverse viewpoints, while also maintaining applicability to UK practice and regulation.

Next steps

An important outcome of our workshops was to highlight some next steps for this work. Firstly, a best practice approach will need to incorporate different components of ethical practice, such as ethical principles, professional guidance, and practical 'tool kits'. While a number of these components already exist, they are currently dispersed among organisations and professions and there is a lack of coordination. As such, we recommend that it would be extremely useful and valuable to map the existing stakeholders and resources relating to ethics in UK genomics healthcare and research. We are currently looking into pursuing this next phase of work. This will enable the identification good practice that already exists and identify gaps that still need to be addressed.

Secondly, we identified that there is a need to bring together the community of practitioners, researchers and other professionals who support implementing ethics within genomics in healthcare and research. Ideally, an organisation should be identified or created to take a lead on this, bringing together information and people, to support best practice that uses existing ethical standards, frameworks and tools to promote consistency, avoid duplication of work and set expectations of good and bad practice for all those who have a part to play in the future of genomics in healthcare and research.

You can access the summary of our case studies and our workshops here.

We are interested in mapping out existing ethics resources relating to genomics across the UK, and invite people to signpost these resources to us by getting in touch at bioethics@bioethics.org.