The England Rare Diseases Action Plan 2026 has just been published. It marks the final action plan based on the 2021 UK Rare Diseases Framework. Whilst it introduces only one new action, it serves as an important wrap-up and progress report on the work happening right now. It also sets out how rare disease policy will align with other major government strategies, such as the 10 Year Health Plan and the Life Sciences Sector Plan, and confirms that the Rare Diseases Framework will be extended until 2027. 

Over the next year there will be opportunities for people living with rare conditions and their families to help shape what comes next. Embedding the needs of our community within the NHS’s broader 10 Year Health Plan and wider life sciences strategy will be an important part of that conversation. 

We are pleased that the Living Well Movement has a seat at the table as these discussions unfold. We will continue to bring the voice and experience of our community into policy and implementation forums, just as we have over the past year. 

This year’s single new action recognises that living with a rare disease can mean facing a health inequality. This is a significant step and underpins a renewed focus on understanding and addressing the gaps that people living with rare conditions experience in diagnosis, care and access to services. 

Over the coming year, NHS England and partners will work to embed rare disease within the NHS’s Core20PLUS5 framework for tackling inequality, something many patient groups, including us, have actively called for. 

Getting a Final Diagnosis Faster
There have been major strides in this area over the past year. The NHS Genomic Medicine Service continues to expand its reach, now delivering genomic testing for more than 7,000 rare diseases. Thousands of whole genome sequences have been completed, and studies such as the Generation Study are helping to understand how genomic screening in newborns can improve early diagnosis and outcomes. 

Two specialist pilot clinics for people with undiagnosed rare conditions are planned to open in 2026, representing a step towards a more systematic approach to tackling the long diagnostic journeys that so many families know all too well. 

Increasing Awareness Among Healthcare Professionals
Improving understanding of rare disease among clinicians remains vital. Digital education resources have grown this year, with tools expanding their content and use within the NHS. Training programmes in genomics and rare disease continue to reach hundreds of clinicians, encouraging better recognition and earlier investigation of rare conditions across both primary and specialist care. 

Better Coordination of Care
When services are joined up, people experience better outcomes and fewer administrative burdens. The Action Plan highlights the role of Rare Disease Collaborative Networks (RDCNs) in bringing expert teams together and identifies ongoing work to make multidisciplinary care more streamlined. 

Over the past year, we have played an important role in the Adult Bone RDCN, hosting a full-day in-person event at our annual community conference. This event brought stakeholders together to move from identifying priorities to shaping national measures and defining practical next steps for improving care, training and support. 

Research into the most effective approaches to care coordination is also underway, ensuring that future service design reflects both patient and clinician experience. 

Improving Access to Specialist Treatment, Care and Drugs
There has also been significant progress in the regulatory and access landscape. The MHRA is reforming how rare disease therapies are assessed and authorised, and this year we have been actively engaged in shaping aspects of these regulatory reforms. 

NICE has published a new Rare Diseases Quality Standard to support more consistent care across the NHS, and we provided feedback during the consultation stage. 

We have also been part of discussions around the NHS’s emerging framework for individualised therapies, helping to ensure that the patient voice is reflected in these important system changes. 

This year’s Action Plan also emphasises two of the underpinning themes identified by a consortium of patient advisory groups as particularly important, a group we are proud to contribute to. 

• Health Inequality - highlighted by the new Action 40 and supported by research and tools designed to understand where inequalities exist along the rare disease patient journey. 
• Digital, Data and Technology - recognising the role that data infrastructure, genomic records and digital systems can play in transforming diagnosis, research and care delivery.

Greater use of shared health data and the development of national digital tools, including plans for a single patient record and continued updates to genomic testing directories, are expected to benefit people living with rare conditions, improving everything from clinical decision-making to research.