Over 3.5 million people in the UK are living with a rare disease, and one in 17 will be affected at some point in their lives. As Managing Director for the UK & Ireland at Biogen – a global biotech company with a focus on driving innovations for the most complex and devastating diseases – I’ve seen how rare diseases impact every aspect of someone’s life, from their physical health and mental wellbeing to their education, financial stability and personal community.
The 2021 UK Rare Diseases Framework laid the foundation for a more strategic approach to rare diseases, but we’re still not where we need to be. People are diagnosed too late or not at all, coordination of care is poor and access to treatment is limited.
There are reasons to be hopeful. The Medicines and Healthcare products Regulatory Agency has said it will develop a new pathway for testing, manufacturing and licensing rare disease medicines in the UK, and the UK government has extended the UK Rare Diseases Framework until 2027 – but warm words alone will not change anything for patients. We need dedicated clinical leadership to catalyse transformation.
With around 7,000 rare diseases – plus many more that do not yet have a name –it is no surprise that expertise is currently fragmented, not just across the UK but across the world. People living with a rare disease often require complex care involving a wide variety of healthcare professionals from multiple specialties and, in some cases, there may only be a handful of experts for a particular condition.
At the same time, people living with a rare disease have many shared experiences and challenges, and it is clear that a more strategic, coordinated and expert-led approach to policy, commissioning and service provision would bring significant benefits.
In England, we believe this should include a National Clinical Director (NCD) for Rare Diseases. NCDs are practising clinicians who work for the NHS to provide clinical leadership and advice across more than 40 conditions and services – from cancer to cardiovascular disease, and from emergency care to major trauma. People living with rare diseases deserve the same representation at the highest levels of NHS leadership.
This is about more than a job title. The Secretary of State for Health and Social Care has said that “good clinical leadership is crucial to improve services, quality of care, and transforming health care”. We’ve also seen how the work of NCDs has led to improved patient outcomes and greater life sciences investment.
Now as the UK government seeks to design a successor to the UK Rare Diseases Framework, we believe that a new NCD for Rare Diseases should be central to these efforts – a bold and visionary leader responsible for contributing their own unique front-line experience, ensuring that the needs of people living with rare diseases are embedded in NHS service planning, and providing coordination across the whole rare diseases ecosystem.
In parallel with shaping the longer-term future of rare diseases policy, there are urgent issues that need addressing now – at the top of a new NCD’s to-do list should be improving access to treatment.
I’ve seen how pioneering science can give people with rare diseases a second chance at life. The problem is that most never get this chance, because the system we have for evaluating new medicines is not fit for purpose. Between 2020 and 2023, only 50 per cent of European Medicines Agency (EMA) approved non-cancer rare disease medicines were reimbursed in England, while the figure was just 46 per cent in Scotland. This compares to 85 per cent in Germany, 74 per cent in Italy and 67 per cent in France.
The core issue is that too many rare disease medicines are caught in the gulf between the National Institute for Health and Care Excellence (NICE)’s Highly Specialised Technologies programme, which is limited to a handful of treatments for the rarest diseases, and NICE’s Standard Technology Appraisals programme, which groups together all other treatments and is simply not designed for rare diseases. The recent changes to NICE’s cost-effectiveness thresholds are welcome, but do not address this fundamental issue.
With the merger of NHS England into the Department of Health and Social Care, we have an opportunity to bring big ideas to the table like creating a new evaluation mechanism for select rare disease medicines when existing NICE assessments are not viable. Rather than limit ourselves to tinkering around the edges of the current system, a new NCD for Rare Diseases could lead true transformation.
The issues we’re dealing with are complex. They’re long-standing. But they’re not insurmountable and the potential benefits go far beyond improving outcomes for individual patients.
Delayed diagnosis and limited treatment options cost the NHS an estimated £340m each year, with a further £4.7bn in health-related disability costs and a £14.9bn annual loss to the economy. Improving support for people living with rare diseases is not just the right thing to do – it is an economic imperative.
To play our part in driving change, Biogen is committed to working in partnership with the rare diseases community, the UK government and the devolved administrations. We firmly believe it is possible to find solutions that work for all sides: ones that put rare disease patients first, are sustainable for the NHS and drive economic growth.
This is a pivotal year for the future of rare diseases policy in the UK, and the decisions we make now could shape care for decades. Let’s seize the moment to turn hope into reality for millions.
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