Why ‘rare’ still means waiting for too many patients
Living with a rare disease such as a primary or secondary immunodeficiency brings challenges that go far beyond the condition itself. The journey from symptoms to diagnosis, and from diagnosis to treatment, is often marked by long delays, uncertainty and unequal access to care. The stark fact is that these common themes are shared by more than 3.5 million people in the UK living with rare conditions. This is because, although each rare disease affects only a small number of people, there are estimated to be over 7000 rare diseases.
Despite world-class science and innovation, the UK system for accessing rare disease medicines has not kept pace with the realities of rarity. A new report from the BioIndustry Association’s (BIA) Rare Disease Industry Group highlights how being “rare” creates structural barriers at every stage of the access to medicines pathway.
Here we cover the report’s main findings:
- The challenge of rare
Rare diseases, by definition, affect small numbers of people, and there is often limited medical knowledge or experience to guide diagnosis and treatment. In many cases, it is also harder to measure how well treatments work. Due to this, gathering strong evidence can be challenging. However, current systems often assess rare disease medicines using processes designed for much more common conditions.
The report highlights that only 5% of rare diseases currently have an approved treatment. For people without treatment options, getting a diagnosis can take many years and involve multiple services. Where treatments do exist, diagnosis tends to happen much sooner.
Nevertheless, the UK continues to lag behind similar countries. While the UK is a world leader in medical research, access to medicines for rare diseases is often slow and uneven. Whether someone receives treatment can depend on where they live, the specific condition they have, and how prepared local services are to deliver care.
- Fragmented pathways and delayed access
The report identifies a system that performs well in individual parts but struggles to function as a joined-up system. Regulatory approval, health technology assessment and NHS adoption do not consistently align, creating duplication, uncertainty and delay.
Stakeholders across industry, the NHS, academia and patient organisations described the UK’s rare disease access pathway as fragmented and unpredictable. Evidence expectations vary between regulators and appraisal bodies, early access routes are used inconsistently, and even when medicines are recommended, adoption across the NHS remains uneven.
- ‘Rare’ doesn’t fit standard models of drug assessment
Most rare disease medicines (orphan drugs), in England and Wales, are assessed through NICE’s Single Technology Appraisal (STA) process. However, this framework was not designed for rare diseases. While the Highly Specialised Technologies (HST) route exists, its criteria are narrow and exclude many rare disease therapies.
Recent data cited in the report shows that in 2023/24, 18 orphan drugs were assessed through the STA route (six recommended) and seven through HST (five recommended). In 2024/25, 15 orphan drugs were assessed through STA (11 approved) and only one through HST, which was not recommended. This pattern underlines how current pathways struggle to accommodate rarity.
The human and system cost of delay
Delayed access to rare disease treatments not only affects patients and families; it has significant system-wide consequences. The report highlights new analysis estimating:
- £340 million – Annual NHS cost of delayed diagnosis.
- £3.5 billion – Annual local authority social care expenditure.
- £4.7 billion – Annual disability and welfare benefits.
- £14.9 billion – Estimated annual loss in tax revenue due to reduced workforce participation.
- 46% of parents of disabled children report that caring responsibilities affect employment; one in five leave work entirely.
These figures underline that barriers to access are not only clinical, but also economic and societal.
What needs to change
The report sets out a clear conclusion: the challenge is not scientific capability, but system design. Other European countries have adopted more flexible, proportionate approaches that allow earlier, predictable access while maintaining public accountability. The UK must do the same if it is to ensure that rarity does not mean exclusion.
The report calls for earlier and more structured dialogue between regulators and NICE, reforms to early access routes, appraisal methods that better reflect the realities of rare diseases, and stronger national leadership to drive adoption and accountability across the NHS.
As Lawrence Tallon, Chief Executive of the MHRA, states:
“It is encouraging to see the BIA’s report so clearly reinforce the direction we are taking at MHRA – towards a regulatory landscape for rare diseases that is more agile, more patient-centred and better equipped to bring innovative treatments to those who need them most.”
Nick Meade, Chief Executive of Genetic Alliance UK, adds:
“In these exciting moments for innovation in rare condition treatments, we need a system where the cutting edge of science – not the decision-making process – is the limiting factor in what our community can expect.”
Posted January 2026
