Gene therapies and AI – is this the next phase of genomic medicine?
Increasingly, genomic testing is mainstream, but with this transformation, the focus has shifted to understand how genomics can be more embedded in patient care pathways. The recent British Society of Genomic Medicine Annual Conference 2024 set this tone for the next phase of genomics medicine.
In a pivot from previous years, BSGM placed the spotlight on big data and AI, and gene therapies, as well as ‘national conversations’ (more on that later). I felt this resonated with topics we at PHG are working on exploring the challenges and needs of the federation of trusted research environments; and the complex regulatory landscape of advanced therapy medicinal products.
Ostensibly, a genetic diagnosis informs patient care, however, many rare diseases lack a clear treatment pathway. The challenge is two-fold. Maximising the value of genomics requires testing to be embedded in treatment pathways; however with mainstreaming of genomics, the workload of the specialist workforce can only grow. This leaves little capacity for evolving service delivery.
So, this shift in focus by BSGM is timely. There are many who recognise the challenges of innovating through AI and gene or cell therapies, but realising this opportunity requires a willingness to engage. Certainly to me, it is apparent that the path for the NHS will require greater collaboration and sharing of experience and expertise.
Delivering innovation, while prioritising the clinical ask
Sickle cell anaemia – a genetic condition I touch on in a forthcoming report exploring host genomics in response to infection – is a major health challenge, predicted to affect 14 million people by 2050. Even with treatment, sickle cell anaemia can result in crises that may require hospital admission and pain management.
In 2023, the first gene therapies (Casgevy and Lyfgenia) for sickle cell anaemia received marketing authorisation; yet, these have not been recommended for use by NICE. Therefore, these innovative treatments are not available through the NHS and this has direct implications for patients. There are wider implications on how industry views the UK as a place for innovative treatment.
Given the ongoing unmet clinical need of sickle cell anaemia patients, researchers are exploring different approaches. Panicos Shangaris, from Kings College London, shared a novel approach aiming to cure sickle cell anaemia in utero. Sickle cell anaemia is screened for in pregnancy, so there is the potential to identify an affected fetus early in pregnancy for treatment and potentially a cure. This opportunity is time sensitive, targeted to maximise the transformation of haematopoietic stem cells and for treatment to occur before the immune system can learn to attack any cells treated with the gene therapy.
But this approach must be carefully considered. Any intervention at this stage of pregnancy will be a difficult decision to make. Parents will need to understand the risks, the safety profile and the effectiveness of the therapy. While this approach is meant to maximise the success of intervention, engagement with the Sickle Cell community will be essential to ensure that it meets their needs.
A ‘national conversation’
Clinical genomics services in the UK have gone through significant changes in the last decades. Many have been positive, supercharged by innovation in sequencing technology. Since implementation in 2020, whole genome sequencing (WGS) has become increasingly embedded in mainstream clinical practice. However, many patients remain undiagnosed and, like much of the NHS, clinical genetics is affected by long wait lists.
The UK has four overarching clinical genomics services, delivered by the NHS in England, Northern Ireland, Scotland and Wales. At the BSGM annual meeting, a panel of genomics policy leaders across the UK shared their perspectives on their individual services and what they perceive to be the priority areas for policy development. From this national perspective it was very apparent that many of the challenges with delivering a genomics service are shared, including: addressing workforce needs, adequate funding for service delivery, equitable access to novel (but expensive) treatments, and how to assess the outcomes and impact of genomic testing on clinical care.
More collaboration and sharing of innovation across the UK health system will support a stronger NHS overall. So it was good to see willingness across all the nations to work collaboratively on these common issues. Progress in the genomics services has been rapid but this can create its own challenges. Lets hope we can utilise these shared perspectives to ensure advances in science and technology translate in a way that provides genuine benefit for all UK patients.