Lorna Rothery spoke with Victoria Hedley, co-lead of the Rare Disease Research UK Hub, about initiatives aimed at advancing the agenda for rare diseases, as well as the importance of facilitating cross-border collaboration to promote best practices and advance critical research
Q. Are rare diseases sufficiently recognised as a public health priority in the UK?
Rare diseases present a global challenge, necessitating a cross-border perspective. Through my involvement in international as well as UK-focused initiatives, I am exposed to different approaches to providing diagnostics, treatment, care, research and social support for rare conditions. It’s vital to consider whether other countries have effectively addressed these challenges or if everyone struggles similarly.
A global rare disease framework is essential, complemented by each UK nation developing its own action plan. Since 2013, we’ve been among the relatively few European countries that have maintained a national plan or strategy for rare diseases, which is important as it signals to patients that these issues are a priority in the UK. It is imperative, therefore, that the current UK Rare Diseases Framework is evaluated and renewed when it comes to an end later this year.
There has been a strong focus on RD in the UK of late, including the launch of important new initiatives like Rare Disease Research UK, the LifeArc Translational Research Centres, and the Rare Therapies LaunchPad – whilst this is very positive, much remains to be done. The NHS is undergoing significant changes, and there are concerns that those with rare diseases may be overlooked in favour of more common health issues. It’s important to uphold existing policies, assess their effectiveness, and create a new strategy for the future based on what has worked and what hasn’t.
Q. How critical is cross-border collaboration to advancing research and translating this into clinical care?
One of the challenges in the UK these days is that, since Brexit, we have been locked out of the most exciting new structures for care and research for rare diseases: the European Reference Networks (ERNs). This was a significant loss, and all the more regrettable because the UK coordinated more ERNs than any other country. It’s unfortunate because these networks are increasingly making real progress by, for instance, mapping and analysing the expertise available within each country for rare conditions. For example, the ERNs provide useful resources; you can search for rare renal conditions and see which centres in each European country have expertise in these areas, and the specific rare conditions they treat. In contrast, finding this information in the UK isn’t as straightforward as it should be. We have highly specialised services for some rare conditions, and so far, so good. However, many conditions aren’t covered, and I feel we lack a comprehensive overview of who is working on which rare diseases and where they are located.
Despite not being formally engaged with ERNs these days, it is important that we seize all opportunities to play leading roles in international initiatives and share our good practices, and be willing to learn, in our turn. We could benefit greatly here, I think, by revisiting how we define expert centres for rare diseases. We in the UK helped to develop good tools and recommendations about what constitutes a true expert centre, many years ago, and we could make real inroads by embedding criteria requiring, for instance, a centre of expertise to work closely with relevant charities and patient organisations. This kind of collaboration helps to co-create and produce accessible guidance and best practice information for patients, ensuring that the material is understandable, rather than being confined to the often complex scientific language found in peer-reviewed publications. Similarly, requiring true expert centres or units to span the medical and social domains, for instance by providing care coordinators or specialist nurses, could be very powerful. But these need to be available for all rare conditions, not just a ‘fortunate’ few.
We should evaluate our core infrastructure here, celebrating the unique opportunities and strengths we have, but also consider whether things could work better. Countries like France have successfully implemented a national registry, allowing treatment centres to share standardised data, which can be very valuable for research on rare conditions. Patients express a strong desire for their data to aid future research, as long as there are safeguards in place to protect their privacy. We should be proud of UK initiatives which are breaking new ground, e.g. the Generation study which is exploring the expansion of newborn screening through genome sequencing; however, whilst we are excluding conditions like spinal muscular atrophy from our existing newborn screening programme, we are creating inequalities for patients and highlighting gaps in our healthcare system that currently do not exist in other European countries.
Q. What are the key challenges that patients living with a rare disease might face?
Patients with rare diseases encounter interconnected challenges in care, research, and social support. In general, everything is just that bit more difficult for people. Despite global investments in research, only about 5-6% of these conditions have dedicated treatments, highlighting the need for continued progress. The rarity itself brings a lack of awareness and ignorance, and complex needs are often not well understood. Many in the social support and welfare sectors lack understanding of rare conditions. For instance, individuals with Prader-Willi syndrome may struggle with insatiable appetites, which complicates their ability to manage food intake despite being able to physically use utensils and feed themselves. This illustrates the complex interplay of needs and abilities that is often overlooked.
Diagnosis remains a hurdle in so many conditions. There has been a major focus on diagnosing genetically inherited conditions; however, it is important not to overlook the diagnostic and treatment needs of individuals with acquired conditions. While genetic conditions represent the majority of rare diseases, focusing solely on genomics can lead to frustration among patients and clinicians.
Given the diversity of over 7,000 rare diseases, a one- size-fits-all approach is ineffective. Therefore, it is crucial to evaluate whether core systems and structures like our highly specialised services and National Registries for Rare Diseases are functioning optimally. While community care is emphasised in the NHS 10-year plan, access to expert care for rare conditions is often limited and must continue to be supported for those who need it.
We must guide patients early to appropriate specialists, leveraging digital health options while acknowledging the social aspects of care. Many patients remain without effective treatments, and sadly, will do for many years, or even their entire lives, whilst working to develop treatments for all. We owe these people timely access to high-quality care and social support. This is essential for their wellbeing. A coordinated, multidisciplinary approach is needed, which includes support for psychosocial needs.
Q. Are there concerns about implementing digital tools without adequately considering patient welfare and their overall environment?
Finding the right balance in virtual care is crucial. Virtual care can be beneficial for some conditions, or for some aspects of care in certain conditions, but in-person visits are often necessary, especially for initial appointments and complex cases. This allows for comprehensive discussions about symptoms and access to various experts. Equally, patients shouldn’t have to travel far for brief or general check-ups, which could be undertaken locally or remotely. Learning from successful European Reference Networks, which utilise virtual care for complicated cases like rare forms of anaemia, we can improve our approach to balancing where and when remote and specialised expert reviews can be useful, and when it is unnecessary.
Europe’s new health technology assessment (HTA) regulations focus on sharing data on the effectiveness of treatments and devices, and it will be interesting to see how this pans out in the EU.
We need to balance being cautious with embracing new technologies and diagnostic methods, while also ensuring we remain competitive in research and development to improve patient outcomes in the UK and beyond, especially for rare diseases.
Q. What do you believe are the key priorities at a policy level?
The Department of Health and Social Care has a committed and dedicated team focused on rare diseases and seems very open to engaging internationally, for patient benefit. I coordinate a UK-International Mirror and Action Group for RD Research (RD-IMAG), that is dedicated to fostering more collaboration between the UK and the rest of the globe at that cross-rare-disease level. We hope to assess the value of tools and recommendations produced by international projects and consortia and introduce these to the UK (whilst feeding UK needs and priorities back into those large structures). While groups like the International Rare Diseases Research Consortium and the European Rare Disease Research Alliance provide valuable resources, actual utilisation by stakeholders often falls short.
Our goal is to share practical tools with researchers, and we can do this, but the most meaningful change requires rethinking how we run major structures here in the UK, for instance, how we capture data and support registries. Our RD-IMAG and our Rare Disease Research UK Platform (co-funded by MRC and NIHR) can facilitate discussions and propose ways to improve, but we can’t enforce changes. A key success in the UK has been the commitment of research funders, including MRC, NIHR, and increasingly LifeArc, to finance rare disease research that benefits patients, although there are concerns about the sustainability of such funding.
Initiatives like Rare Disease Research UK are essential. We have several research nodes focusing on cross-cutting issues relevant to many rare diseases, which are driving important advancements. However, these efforts only scratch the surface; rare diseases often get overlooked in the general funding pool, with evaluators prioritising studies on more common conditions.
Despite years of funding, effective therapies are often lacking, indicating the need for targeted policy support. Groundbreaking research must continue, but we must prioritise improving basic care for the rare disease community. Ultimately, our goal is to help these patients live their best lives.
