Read a concise update on achievements, pilots and the new Action 40 in the England Rare Diseases Action Plan 2026
The England Rare Diseases Action Plan 2026 describes concerted efforts to change how the health system supports people with rare diseases. In a ministerial foreword Ashley Dalton MP highlights continuing unmet need: long waits for diagnosis, fragmented services and that only 5% of rare conditions have an approved effective treatment.
This report links those realities to the government’s broader strategies, notably the 10 Year Health Plan and the Life Sciences Sector Plan, and explains how targeted steps across regulators, the NHS and research organisations are being used to turn ambition into practice.
Where this plan fits in the health landscape
The action plan builds on the UK Rare Diseases Framework and the national conversation that identified four priorities: faster final diagnosis, better clinician awareness, improved care coordination and enhanced access to specialist care, treatment and drugs.
Collectively, rare conditions are not rare: around 1 in 17 people will be affected in their lifetimes. The plan is aligned with three strategic shifts set out by the 10 Year Health Plan — moving care from hospitals into communities, shifting from analogue to digital, and emphasising prevention — while recognising the particular needs and nuances of people with rare diseases.
Progress and concrete actions
Faster diagnosis through genomics and pilots
Major gains in reducing the diagnostic odyssey have come from expanding genomics in clinical pathways. The NHS GMS now provides genomic testing for more than 7,000 rare diseases and in 2026 carried out over 340,000 genomic tests, including more than 40,000 whole genome equivalents. The NHS Rapid Whole Genome Sequencing Service for acutely unwell children returned diagnoses in roughly 40% of cases with a likely monogenic condition. New pilots include two centres for people with undiagnosed rare conditions, exploring advanced genomic technologies, multiomics and functional genomics; these pilots are expected to be operational by autumn 2026 and will feed learning into the national genomic offer.
Treatment access, specialist networks and examples
Regulators and guidance bodies have created momentum: the MHRA has signalled reform to support novel therapies, and NICE published a new quality standard for rare diseases. The NHS has designed a framework for individualised genetic therapies and treated the first patient with an individualised therapy within NHS services. Service design advances include 28 rare disease collaborative networks that standardise pathways and shared learning, plus re-procurement of the NHS GMS to broaden testing and find patients in the community. A practical illustration is the national service for thrombotic thrombocytopenic purpura (TTP), designated through the NHS England highly specialised services model in 2026 and now delivered by seven regional networks across nine centres, improving rapid recognition, diagnostics and outcomes for this time-critical condition.
Underpinning themes: health equity and digital transformation
Two cross-cutting themes run through this year’s report. First, following patient advisory group feedback the plan introduces Action 40, formally recognising rare disease as a health inequality and committing to plans to address disparities. Second, digital, data and technology are central: the NHS Genomics Education Programme has produced GeNotes educational resources across 12 specialties with nearly 600 resources covering more than 150 rare diseases, and the Generation Study is piloting newborn whole genome sequencing as an embedded NHS research study with the ambition to sequence 100,000 babies to test for treatable rare conditions. These digital investments support the strategic shift from analogue to digital and underpin better coordination and earlier intervention.
Looking ahead: community voice and next steps
All four UK nations have agreed to extend the Rare Diseases Framework to January 2027, offering additional time to engage the rare disease community and refine priorities. Over the lifetime of the framework 39 actions have been introduced; this edition focuses on progress against live actions and extensions rather than adding many new commitments, while making the important addition of Action 40. Annex A, published alongside the report, provides a full action-level update. The plan reiterates that the voices of people with rare diseases, their families and advocacy organisations remain central, and sets a clear path for scaling pilot learning, improving access to novel therapies and reducing the diagnostic odyssey that so many families still face.
