UCL School of Pharmacy


UCL School of Pharmacy Policy Briefing: Medicines for the Few and the Many

17 May 2022

Medicines for rare diseases – which in total directly affect 6 per cent of the UK population – are already making important contributions to improving health and well-being.

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There is a growing requirement for novel systems for developing treatments for very rare and ultra-rare disorders. New approaches to whole genome screening for new-borns and assuring timely NHS patient access to innovative ‘orphan’ therapies are also needed. 

Rare disease definitions vary. Conditions with a prevalence of less than 1 in 2000 people are normally seen as rare. As defined here those with a prevalence of under 1 in 10,000 but more than 1 in a million may be regarded as very rare while those with a prevalence of 1 in a million or less are ultra-rare. Rare diseases are by definition uncommon. But there are some 7,000 rare disorders in today’s medical literature. In aggregate they directly affect around 6 per cent of the population and approaching 20 per cent directly and indirectly. Very rare and ultra-rare conditions alone directly affect about 1 person in every 100. These figures indicate a major societal burden. Some rare disorders can now be much more effectively treated than when the NHS was first established. Technologies like gene therapies promise further gains. 

However, most people affected by rare diseases remain at high risk of misdiagnosis, late diagnosis and inappropriate or inadequate treatment. Another reason why enhancing rare disease research and services is an important health policy goal is that as complex diseases like cancers are becoming better understood more rare sub-types requiring specific treatments are being identified. Medicines required in low volumes have high unit costs and hence high prices. This may make them seem unaffordable in the short term, even when they can in the longer term offer important health gains at an acceptable overall cost.

At present total spending on medicines for rare diseases represents only 0.1 per cent of UK GDP. If this spend were to double it could still be afforded, should decision makers choose. In the US, the EU and the UK provisions are in place for allowing companies that invest in proving the safety and value of rare disease medicines exclusive use of the data they generate to gain marketing authorisations for up to 10 years. This incentive helps drive investment in ‘common’ rare conditions and should from a public interest viewpoint be maintained.

Yet as opportunities for developing effective treatments for very rare and ultra-rare conditions increase it presently appears unlikely there will be sufficient incentive for commercial investors to channel funds into translating basic advances into licensed treatments for very/ultra low volume indications. If policy makers wish Britain to be a global life sciences centre addressing this problem should be seen as an opportunity. 

Extending whole genome screening for new-borns in order to permit the early and accurate diagnosis of inheritable disorders also deservers prioritisation. Recent changes in the ways in which organisations such as the MHRA and NICE work ought to allow NHS patients better access to ‘orphan’ treatments. But there are concerns about issues like tight restrictions on allowing rare disease therapies to be evaluated via NICE’s Highly Specialised Technology assessment process and curbs on permitting more to be paid per QALY gained in areas where costs are high and suffering is most severe, as compared with QALYs gained elsewhere. UK public and patient interests will be served by finding incremental ways of enabling agencies such as NICE to work more flexibly.

However, the process of valuing innovative treatments before NHS service users can access them may in future need to be amended or radically simplified. One possible reform might involve indication based pricing. This could allow more to be paid for given therapies when they are used to treat rare as opposed to commonly occurring indications. Another might be the introduction of free pricing for ‘orphan’ disease medicines at the time of launch, followed by controls as needed in subsequent years. This should accelerate patient access. 

The UK also has additional opportunities to lead progress on forming close working partnerships between grant funded researchers working in settings such as Universities and NHS hospitals and scientists and other contributors working in commercial environments, aimed at developing new very low volume use treatments and making them affordably available. A national consultation on what policies can most realistically achieve this end is needed to bring patient representatives and other stakeholders in the public and private sectors together to raise the quality of public policy debate and build a common focus on achieving shared health gain goals.

Read and download the full report here:



Professor David Taylor