Plugging ethical gaps to achieve genomic best practice

Within the 2020 Genome UK strategy, the Government announced its desire to harness the latest technological advancements for the benefit of patients and in doing so, create the most advanced genomic healthcare ecosystem in the world (see BioNews 1066).

Fundamental to their ambition was a commitment to establishing a gold standard UK model for how to apply strong, consistent ethical and regulatory standards across genomic research and its use in healthcare.

To assist in the delivery of this commitment, we, the Nuffield Council on Bioethics, engaged with the sector to agree exactly what a 'gold standard UK model' looks like and to outline the steps we’d need to take to achieve it. We published a report Ethics in genomics healthcare and research: building connections and best practice in July 2023.

We found there is an evident impact of ethics across the genomics landscape. In some cases an ethical understanding and consideration can influence changes to policy, regulation, and even organisational structures. One example came from the Association of British Insurers where they agreed joint guidance with the Government to explain to consumers what an insurance company does and does not need to know about someone's genetic testing when they apply for cover.

Despite this positivity, we also heard there were challenges in applying ethics in genomics. Some held the perception that ethics is obstructive and solely concerned with regulation and law. Plus, there were practical challenges such as a lack of funding, resources, and time to embed ethics into practice.

The consensus of our scoping was that a UK-wide coordinating role needs to be set-up to oversee the curation and co-production of ethical resources. Only in doing so will the UK reach its ambition of a 'gold standard' model.  

In partnership with the Office for Life Sciences, we have taken the first step towards this ambition by undertaking an initial mapping exercise of current ethical resources.

What did mapping the terrain tell us?

Our most recent report, which was funded and developed in partnership with the Office for Life Sciences, provides the first comprehensive UK map of publicly available ethics resources that are aimed at supporting the discovery, development and application of genomic technologies.

It was encouraging to see that the resources we identified cover a range of topics including consent and confidentiality, data use and governance, prenatal genomic testing, and synthetic genomic data. Some provide practical guidance while others explore the ethical considerations a particular topic invokes and suggests recommendations for governance or practice.

This wide array of content is likely because of the resources need to be tailored for healthcare professionals, researchers, regulators, or policymakers. Interestingly, most are external facing, meaning that they are written in a way for others to learn from and adapt for their own needs.

While these current resources are extremely valuable, we did find there are gaps that need attention. These gaps include:

• Diversity and genomics
• Familial disclosure of genetic conditions
• Polygenic scores
• Sustainability and genomics
• Whole genome sequencing of newborns

These are topics that either had no resources relating to them at all, or where existing resources did not answer all of the questions that could arise. For example, we found ample resources seeking to tackle consent, but there was a distinct lack of consideration for how to approach informed consent when someone's test indicated a result for something that was not the primary reason the test was consented to. There was also a gap when it came to familial disclosure, which is where results for one individual have relevance to other genetically related family members.

The current lack of diversity in genomic healthcare and research is a well-known issue. Our mapping confirmed this remains to be the case as we found absolutely no UK specific resources relating to diversity and genomics. If this is not addressed, we fear health inequalities will continue to perpetuate.

We believe a UK-wide coordinating role needs to be set-up to oversee the curation and co-production of further resources. And being mindful that some of these missing resources may exist, but have not been made public, we have said there should be further encouragement for individuals and organisations to share their knowledge and work. This is how we will avoid duplication of effort, inject much-needed diversity and achieve a higher degree of consistency in ethical approaches across the sector.

Does genomics trigger a higher degree of ethical concern?

Genomics is not unique in its need for ethical assessment. Any development that has the potential to fundamentally change the way we live, the way we treat illness, or indeed the way we think about being human is something that we need to step back from and carefully consider the implications of.

Our want to better understand how genomes influence health is fuelled by a hope that this knowledge will improve our ability to prevent, diagnose, treat, and ultimately cure disease.

Genomics has a good funding stream from the UK Government, which means it can continue to grow with pace. Therefore, the emergence of novel applications and the potential for resultant ethical issues is hardly surprising.

Currently, the way research institutes, clinicians or policy makers consider ethics in regards to genomics can vary greatly and it is this lack of consistency that can perpetuate inequitable experiences for research participants and patients whose data are being used.

Clearly, a dynamic approach to building and maintaining ethical consensus is needed.

How can ethics be flexible enough to meet genomic needs?

Alongside our report, we have produced and will be continuing to curate a 'living resource bank'. The plan is for new resources made to be added over time either by us or at the request of external stakeholders.  

But we need to go further. We believe that if the missing resources are developed by those working within genomics research and healthcare, this will not only help them reach consensus, but it will also ensure the resources remain relevant for persistent or emerging issues. Patient and research participant input must be central to this endeavour, as lived experience views are crucial for identifying what best practice looks and feels like.

A national coordination role is required to make this vision a reality.

You can access all of the reports we have produced and published in this Genomics healthcare and research series on our website.