From promise to patient: closing the gap between policy and delivery in rare disease
Estimated reading time: 7 minutes
Owen Marks, Omgen, shares his insights into the widening gap between policy and delivery and how ‘under-delivery’ is setting the UK back in areas where it otherwise has the potential to excel
In recent years, the United Kingdom has rightly earned a reputation for thoughtful, progressive policy in rare disease. From the UK Rare Diseases Framework to the establishment of specialised funding mechanisms and world-leading institutions, there is no shortage of ambition, intellect or intent.
On paper, the system is impressive.
And yet, for many patients and families, the lived experience tells a different story. The uncomfortable truth is that the gap between policy and delivery in rare disease remains wide, and is, in some cases, widening.
A system rich in strategy, poor in execution
Having worked across Europe and internationally before returning to the UK, one observation stands out. The UK does not suffer from a lack of ideas, and it has highly sophisticated health technology assessment through NICE, centralised commissioning expertise within NHS England and policy leadership from the Department of Health and Social Care. Each of these institutions plays a critical role, and collectively they represent one of the most advanced healthcare systems in the world.
But policy creation and policy delivery are not the same thing.
Too often, the system excels at announcing new frameworks, pathways and funds, only for implementation to lag quietly behind, long after the headlines have faded. For patients, this is not an abstract systems issue. It is the difference between treatment this year… or several years from now.
The innovative medicines fund: a case study in under-delivery
A striking example is the Innovative Medicines Fund (IMF) in England. Designed as a bold mechanism to accelerate access, particularly through managed access agreements and real-world data collection—it represented exactly the kind of forward-thinking policy the UK is known for.
And yet, the delivery tells a different story.
Of a £1.11 billion allocated budget, only around 1% had been spent over more than three years and spending was effectively negligible in its early years. The majority of usage has been for interim funding, not the intended managed access model. Finally, funds not used were diverted elsewhere within specialised services. Even more concerning is what this means for patients. Highly innovative therapies, including gene therapies such as Hemgenix and Casgevy, have seen extremely limited uptake, with fewer than 10 patients in several tracked categories despite far higher eligible populations.
This is not a failure of science, it is not a failure of policy design, it is a failure of delivery.
Why does the gap persist?
This is not about assigning blame, the reality is more complex and delivering rare disease policy is inherently difficult. Small, dispersed patient populations served by highly specialised treatment centres handling complex diagnostic pathways. Of course, there are also capacity constraints within the NHS and operational, logistical and workforce challenges. But acknowledging complexity cannot become an excuse for inertia and in practice, several systemic issues emerge:
Diffuse accountability: Policy is often owned centrally, but delivery is distributed across regions, trusts and clinical networks. Responsibility becomes blurred.
Lack of operational readiness: Therapies may be approved before systems, diagnostics, pathways and funding flows are fully prepared to deliver them.
Insufficient follow-through: There is intense scrutiny at the point of policy announcement, but far less visibility on whether delivery matches intent over time.
Misalignment of incentives: The system rewards policy creation and cost containment more visibly than it rewards successful, timely implementation.
The human cost of delay
In rare disease, delay carries a different weight. Many conditions are progressive, some are life-limiting. For children and families in particular, time is not a neutral factor it is often the defining variable. As I explored previously, success in rare disease is not regulatory approval alone, but delivery on speed of access, equity of availability and sustainability of agreements.
When delivery falters, those principles collapse. Patients do not experience policy; they experience whether treatment is available when they need it.
When delivery works—a reminder of what’s possible
It is important to recognise that success is possible and has been achieved. The Cancer Drugs Fund (CDF), while not without its challenges, has enabled access to over 100,000 patients, supported hundreds of indications and demonstrated how managed access, real-world data and system coordination can function at scale.
Similarly, in Scotland, the Scottish Medicines Consortium has shown how flexibility, collaboration and patient-centred negotiation can translate policy into practice more effectively.
These examples matter because they show that the issue is not capability. It is consistency of execution.
Closing the gap—from intent to impact
If we are serious about improving access in rare disease, the next phase of progress must focus less on creating new policy and more on delivering the policies we already have. A few practical shifts could make a meaningful difference:
Define delivery as success: Policy should not be considered successful at launch, but only when patients are receiving treatment at scale.
Build implementation into design: Operational readiness: diagnostics, centres, workforce, must be planned alongside policy, not after it.
Increase transparency and follow-up: Regular public reporting on uptake, timelines and patient numbers should be standard, not exceptional.
Strengthen accountability: Clear ownership of delivery across the system, with defined responsibilities and consequences.
Treat patients as partners in delivery: Not only in policy design, but in identifying where implementation is failing in real time.
A moment of opportunity
The UK stands at an important moment and with strong foundations of world-leading science, mature HTA systems, a clear policy framework and increasing global experience in advanced therapies. But without consistent delivery, these strengths risk becoming unrealised potential. As I argued in earlier articles, sustainability, collaboration, and early engagement are critical to success, and the same applies here. Ultimately, ambitious policies are only as meaningful as the patients they reach.
A call to close the gap
There is no shortage of commitment across the system. Those working within it; clinicians, policymakers, industry and patient advocates are deeply motivated by the same goal. But good intentions are not enough. If the UK is to remain a leader in scientific innovation in rare disease, it must move beyond being a leader in policy and become a leader in delivery.
This will require persistence beyond the announcement, transparency beyond the headline and accountability beyond the framework. Most importantly, it requires a shared recognition that the real measure of success is not what we design but what we deliver. Because for patients and families, the gap between policy and delivery is not theoretical, it’s personal, and it is time to close that gap.
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