One in 17 people will be affected by a rare disease at some point in their lives. These include life-limiting or life-threatening conditions that disproportionately affect children, often placing a significant burden on individuals, their families, and their carers. In the UK, 3.5 million people live with a rare disease. They all have a diverse range of needs but also face many common challenges when it comes to access to and experiences of healthcare services.
To tackle this, the UK established a Rare Diseases Framework in 2021, which had a five-year vision for improving the lives of people living with these conditions. This had four priorities: helping patients get a diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better coordination of care; and improving access to specialist care, treatment and drugs.
The New Statesman and the global pharmaceutical company Alexion, AstraZeneca Rare Disease, gathered a group of experts to discuss how the UK can drive improvements in patient outcomes. The roundtable discussion was held under Chatham House rules, meaning individuals and organisations are not named. The conversation has been summarised for length and clarity.
“It really matters that in the UK, we have a government, multiple governments, that have committed to rare disease publicly through policy,” said one participant. Another person agreed, adding that public engagement during the development phase of the framework was very good and clear in “letting people know that their views were going to be important [and] considered”. It provided a real platform for people with lived experience to share and be heard across all parts of the UK.
It was agreed by attendees that the framework had helped to establish a consensus on priorities and put structures in place to move things forward, but that the speed of change in some areas had not been fast enough.
Getting a timely and accurate diagnosis is a major challenge in rare diseases. One participant highlighted the realities for many patients and their families in trying to secure a definitive diagnosis where often they may have unclear or confusing symptoms: “It is quite shocking the number of people who feel that they’re not believed [or] not being taken seriously – that nobody’s connecting the dots, that their opinions and their observations of their child or themselves are not valid or real.”
“On the scientific side, we’ve made huge progress [in the UK],” said one person, specifically around the role of genomics, including the rollout of whole genome sequencing for rare and inherited genetic diseases. To build on these advances, they said, there needs to be a focus on strengthening diagnostic pathways and building workforce capabilities, such as training more clinical scientists, so that genomic testing can then inform treatment and care decisions.
Another participant added that given the large number of people who struggle to get a definitive diagnosis, clear information and accessible support are critical. “There’s a great focus on the science but that practical support for patients to understand the tests they receive, and subsequent results is critical – I don’t think we’re there yet,” they said.
Newborn blood spot screening has an important role in detecting some rare conditions early among babies. One attendee noted how, while we have a whole dedicated newborn screening programme for selected conditions, the approach in early years should be broader than just a blood test at birth. Regular physical examinations of babies can help to identify potential symptoms of rare conditions and prompt further testing and referrals to specialists.
Throughout the patient journey, services need to meet the complex needs of individuals with rare conditions through wraparound care and holistic support in addition to any medical interventions. For some, this could include speech and language therapy, physiotherapy and mental health support. “There is a huge gap in place for patients who struggle with navigation and advocacy,” added one attendee. There is optimism that the emergence of digital tools and resources, like patient passports, can help to empower more patients and create more coordinated care.
Many rare diseases do not have approved treatments, but where they do exist, they can significantly improve a patient’s prognosis or quality of life. The group discussed developments aimed at improving access to new treatments, such as the £340m Innovative Medicines Fund, which was launched in 2022 and is aimed at providing faster access to non-cancer drugs. Attendees felt that while the creation of this fund was the right approach, it has not “taken off” in the way that they had hoped.
Also, to realise the full potential of the new International Recognition Procedure, created to enable new medicines to reach UK patients earlier through faster regulatory processes, it needs to be part of a more agile, joined-up approach to medicines access in the UK. “These schemes need to be streamlined, so that they are equitable” and accessible for all patients, including those with rare diseases, one person said. Another said all medicines schemes needed to be properly assessed for impact, and where there may be scope for improvement.
Participants reflected on the potential to learn from approaches taken in other parts of the health system. “We can learn from pockets [of good practice]” within the NHS, said one participant. Initial assessment of symptoms, appropriate referrals and ongoing management can be challenging for non-specialist healthcare professionals. It was suggested that the National Institute for Health and Care Excellence should expand its approach taken in other disease areas with the development of umbrella clinical guidelines for specific groups of conditions such as rare metabolic and rare musculoskeletal conditions.
The current NHS model can deliver significant benefits with improved data-sharing and connectivity of information systems. This can enable more effective management of patients, better planning of services, and incentivise further clinical research into diagnosis and the creation of new treatments. One attendee said: “The only way to get practice-based evidence is if everybody shares the data,” they said. “It is a nightmare to share data across the NHS, and it shouldn’t be.”
Reflecting on the progress that has been made on data-sharing, it was noted that collaboration with patients has been key to gaining a stronger focus on the needs of people with rare diseases. This should be maintained to deliver change under this and future frameworks.
This event and write-up have been organised and funded by Alexion, AstraZeneca Rare Disease.
M/UK/UNB-U/0303
February 2024
[See also: It’s time to focus on the UK’s biggest killers]
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