Turning rare disease ambition into action

The Transforming Diagnosis and Treatment in Rare Disease Summit

Deborah Richards, Vice President and General Manager (UK and Ireland) | Alexion, AstraZeneca Rare Disease

4 min read02 December 2025 Partner content

The UK has the science base and ambition to transform outcomes for people living with rare diseases. Delivery now depends on aligning science, policy and NHS action

The challenges facing those affected by a rare condition are stark. More than a third of people with a rare disease wait over five years from first symptoms to a final diagnosis,¹while just five per cent of rare diseases have an approved treatment.²

Encouragingly, the extent of scientific and technological progress means a step change in rare disease is now within reach. At the recent Transforming Diagnosis and Treatment in Rare Disease Summit, co-hosted by Alexion, AstraZeneca Rare Disease and PCD Research, we brought together leaders from government, the NHS, academia, and industry on translating this promise into measurable action.

Throughout the event, a consistent message emerged: the UK must convert its world-class research and genomic capability into measurable patient benefit and system efficiencies. Whole genome sequencing (WGS), AI-powered diagnostics and data-led research are defining what is possible, but advances in practice will depend on embedding these technologies throughout NHS pathways and the evolution of regulatory frameworks.

Firstly, genomics must become part of routine care. Around 80 per cent of rare diseases have a genetic cause,³ and by getting a timely and accurate diagnosis, children and adults can be referred for specialist care and effective treatment where possible. Accelerating the use of WGS will help more rare conditions to be recognised earlier, providing clarity for patients and families in many instances, and reducing the need for multiple appointments and repeated tests.

Secondly, the UK’s clinical trial environment needs to evolve to fully leverage both the clinical and research insights from WGS testing. The O’Shaughnessy Review in 2023 called for all patients receiving genomic testing of any kind in the NHS to be offered a standard consent for engaging in research.⁴ Building on this recommendation, rare disease trials must be routinely designed to be more inclusive and digitally enabled to help identify eligible participants, reduce recruitment times, and improve patient experience.

Thirdly, regulatory and access processes for evaluating treatments need to adapt to keep pace with innovation and account for the inherent challenges associated with small patient populations in rare diseases. The MHRA’s plans for a new Rare Therapies Pathway seek to enable faster, risk-proportionate and iterative evaluation of clinical trials for novel treatments and flexible approaches to medicines licencing.⁵ Recently, ministers have also signalled the need to explore how NICE health technology assessments consider the wider economic and clinical benefits of treatments.⁶ This is important for rare conditions, where, beyond the significant direct medical costs incurred by patients and healthcare systems, there are also substantial indirect costs in terms of effects on earnings, productivity, and life opportunities.⁷

The science has advanced. The infrastructure is taking shape. The measure of success will be how quickly patients feel the difference, and making better use of NHS resources. With the Rare Disease Framework set to expire in early 2026, any extension or refresh must drive on delivering measurable progress in closing the diagnosis and treatment gaps.

This article was developed and funded by Alexion, AstraZeneca Rare Disease

M/UK/NP/0178

November 2025

References