Genomics in the UK: priorities for innovation, integration and data use
Estimated reading time: 7 minutes
Professor Jenny Taylor, a professor of translational genomics at University of Oxford, and Harry Farmer, a senior researcher at the Ada Lovelace Institute, discuss the future of genomics in the UK, with a clear focus on therapeutic expansion, alongside diagnostic improvements, and the need to address the public’s increasing concerns around issues of genomic data sharing
As part of the Westminster Health Forum Policy Conference on next steps for genomics in the UK, a panel session began with a focus on the need for innovation in rare disease, and what this could look like.
Professor Jenny Taylor, a professor of translational genomics at University of Oxford, and co-lead of the genomic medicine theme at Oxford Biomedical Research Centre, began by discussing the importance of focusing on rare disease therapeutics as well as diagnostics.
Many rare patients have a lengthy diagnostic odyssey, she advised, and a genetic diagnosis is important to inform the use of conventional treatments, but also novel molecular therapeutics, such as nucleic acid therapies.
‘Therapeutics for all’ as the goal
“We’ve been extremely lucky in the UK to have national genome sequencing projects such as the100,000 Genomes Projectand theNHS Genomic Medicine Serviceas these are helping patients to get a genetic diagnosis. Although there is more to be done in improving that diagnostic yield,” Jenny told the conference. “But our aim is to provide all these patients with a therapeutic option. At the moment, only around 5% of rare disease patients can be offered therapeutics.”
Jenny demonstrated why this is important with the example of a subtype of epilepsy that is caused by mutations in the KCNT1 gene. “The gene was identified in 2014 by our group and a French group,” she explained. “By working with colleagues at Yale, we were able to define the mechanism of that gene, and this was important in being able to show that quinidine, a cardiac anti-arrhythmic drug, could be repurposed for this type of epilepsy,” she explained.
“But quinidine is actually a poorly tolerated drug, although it can work for some people. As it didn’t show much genotype phenotype correlation, this led to other types of therapies being developed. In this particular case, an antisense oligonucleotide treatment called valeriasen was developed and given to two initial patients. The second patient treated with it is still on that same treatment today. It’s a really good example of how you can go from a disease gene that was completely novel to a couple of different therapy types within a very short timeframe,” Jenny said.
What’s needed is the ability to scale up production of novel molecular therapeutics to create a more sustainable pathway to delivering individualised therapies. The introduction of theRare Therapies Launch Padhas helped with this, but there also needs to be consideration on how changes to the regulatory pathway could be made, she added.
“We need to be able to move towards accredited centres where we can go from research funding to reimbursement funding for these patients to be able to facilitate their treatment.”
Jenny also highlighted two key initiatives working in the area of developing therapeutics, theUK Platform of Nuclear Acid Therapy (UPNAT) programmeand the Medical Research Council’s Centre of Research Excellence(MRC CoRE) in therapeutic genomics.The MRC CoRE is focused on the development of genetic therapies such as antisense oligonucleotides to treat disorders of the blood, eyes and brain.
A key challenge that could be ahead, as genomics in the UK moves towards the next phase, centres around recontacting patients, she told the conference. “While some of those programmes have processes in place for this, we really do need to make recontacting a seamless process if patients are going to benefit, who have consented to be recontacted. Data access is important for both rare and common conditions,” she advised.
She also cautioned the need to think carefully about how improvements to the reimbursement of these therapies could be made, including looking at what the process will be, and considering how this can be integrated with patients, philanthropists and research and government funding.
Data use concerns
Much has been spoken about the use of polygenic scoring in genomics as an effective tool to predict disease risk. But the conference heard a cautionary message from Harry Farmer, a senior researcher at the Ada Lovelace Institute. Together with the Nuffield Council on Bioethics, the Institute carried out research between 2022 and 2024 into the potential implications of a wider NHS rollout of this type of individual genomic risk prediction tool.
He advised he wanted to share a single finding from the research, and a single policy recommendation.
“The argument that I want to make, and which has been supported by our research, is that if we are serious about the future of the NHS, and this ambition for half of all healthcare interventions to be informed by genomics, we need to introduce a hard ban on the use of genomic testing by the insurance industry,” he told the conference.
“One of our most consistent findings was that people in the UK are worried about sharing their genomic data,” he explained. “Their main worry is if it’s revealed they are more likely to develop some diseases compared to the average person, they may find it harder to get insurance.
“This primary concern prevents people from getting genomic tests that may actually be beneficial for them. This also prevents people from sharing their data for the advancement of scientific medical research, but it’s also true that this worry people have is not entirely unfounded.”
Although there are credible economic reasons why the insurance industry may want to use genomic data, such as to set prices or to determine access to insurance in the future, there has to be restrictions in place around the scope of its use, he said. This problem also affects people in other parts of the world, but they have subsequently implemented pre-elective legal bans on the use of genomic data by insurers. But the UK does not have this protection.
What it does have is an Association of British Insurers (ABI) code of practice on genetic testing. This is an agreement between the government and the insurance industry not to use genomic data in determining access to insurance or in determining premiums. But the problem with this agreement is it is voluntary and there is no legal sanction for an insurer failing to comply with it, he explained.
Genetic discrimination prevention
“Currently, we have a ban that is not really a ban, and it’s also one that could be repealed at any time,” he added. “We strongly believe this needs to be fixed. If the UK is serious about consolidating its strength in genomic science and using this strength to improve the health of our population, we need as many people as possible to share their genomic data for research and medical purposes. We cannot have a situation where people are afraid to share this data.”
The good news is this is relatively easy to fix, he said. All that is needed is to take the existing ABI code of practice on genetic testing and pass legislation to make compliance with the code a legal requirement. “In doing so, we can close one of the biggest gaps in the protection against genomic discrimination in the UK,” he recommended.
“This would remove one of the biggest barriers to the advancement of genomic science in the long-term, and we can make it so people can learn about their own health without being afraid of the repercussions of doing so.”
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