What the new UK Rare Disease Framework means for you

by | Jan 15, 2021 | Rare disease world

What better way to start off the New Year than with a new UK Rare Disease Framework that’s been created by the rare disease community for the rare disease community.

Seven years have passed since the 2013 UK Rare Disease Framework was published and we’re thrilled to say that considerable progress has been made over the course of that time. Although we’ve enjoyed many successes as a rare disease community, we acknowledge that there is still work needed to be done to improve the lives of those touched by rare disease.

Close to 6,300 rare disease community members took it upon themselves to help shape the new UK Rare Disease Framework that was released this week by participating in the National Conversation on Rare Diseases Survey in October 2019. We want to thank you for sharing your lived experiences with those who can enact real change.

If you haven’t had a chance to read the new UK Rare Disease Framework in full, we’ve summarised its contents for you in a simple, easy-to-read blog. Learn what the UK Rare Disease Framework means for you and let us know your thoughts in the comments or by tagging us on social media!

UK Rare Disease Framework key priorities & themes

The new UK Rare Disease Framework focuses on improving the four key challenges that were identified as significant by the rare disease community in the National Conversation on Rare Diseases Survey. These four challenges were:


  1. Reaching a diagnosis faster
  2. Increasing awareness of rare diseases amongst healthcare professionals
  3. Providing better coordination of care by healthcare professionals
  4. Increasing access to specialist care, drugs and treatments

These four challenges, or priorities as the framework calls them, are underpinned by five key themes, namely:

  1. Patient Voice is Vital to Rare Disease Progress and Change
  2. Collaboration Across Countries and Sectors
  3. Improve Research Funding
  4. Increase Data Sharing
  5. Alignment of Rare Disease Policy with Mental and Social Healthcare

The new UK Rare Disease Framework will provide the strategic direction for all UK rare disease research, care and policy for the next five years.

The UK Rare Disease Framework released this week marks the end of Phase 1. Phase 2 has now begun, which means that the four nations (England, Scotland, Wales and Northern Ireland) must develop a specific and measurable action plan outlining the steps they plan to take to meet the principles of the new framework in their home nation. Each nation’s action plan will be reviewed regularly (every one to two years) to ensure that the framework’s requirements and principles are being met. The four nations will have two years to develop and publish their action plan. We expect the nations to turn to the rare community for its input and lived experiences to create an action plan that works to improve the lives of all rare disease patients.

What the Framework’s priorities mean for you

Not sure what the new UK Rare Disease Framework priorities mean for you?

We break down each priority below.

Priority 1: Reach the right diagnosis faster

Receiving the right diagnosis was identified as the biggest challenge faced by the rare disease community according to the October 2019 survey. After all, getting the correct diagnosis is how one can begin to understand his or her condition, find support groups and manage his or her health!

The new framework seeks to reduce the diagnostic odyssey for patients by utilising improved diagnostic technologies, such as genomics and data analysis, so that patients can receive better treatment and make better decisions about their health. The four nations want to detect, test and treat patients earlier to prevent a prolonged diagnostic odyssey, and want to offer diagnostics and screenings faster, especially to those who would benefit from advanced genetic testing.

Priority 2: Raise awareness, training and education amongst healthcare professionals

Healthcare professionals need more opportunities to improve their understanding of genomics and rare diseases to effectively increase the quality of care experienced by rare disease patients. They need to know how to diagnose a rare disease, which tests to recommend if they suspect their patient has a rare disease and how to accurately interpret the results of those tests so that patients can receive the best possible care plan. This knowledge can only be attained through rare disease education, training and resources, all of which are needed to be able to identify and treat a rare disease correctly.

Priority 3: Effectively coordinate and manage rare disease care

Healthcare professionals must seek to provide concise, high-quality care to rare disease patients that decreases the burden on them, their family and their carers. Virtual multidiscipline-team meetings and easy access to patient information by specialists across the four nations are vital to ensuring effective coordination of care and tailored health plans. Telemedicine, video appointments and alert cards are all playing their part in streamlining the care pathway for rare disease patients.

Priority 4: Improve access to care and new treatments

The four nations want to deliver rare disease care as locally as possible, but will aim to sustain, foster and increase international collaboration so that the rare community benefits from greater access to specialist expertise and innovative treatments from around the world.

The NHS will seek to adopt new evidence-based treatments from Early Access to Medicine Schemes (EMAS) and the NHS Accelerated Access Collaborative (AAC), whilst NICE will review its methods and processes used during its technology appraisals and recommendations. The four nations will support international researchers and industry members in their quest to:


  1. Develop new affordable treatments
  2. Improve access to treatments by breaking down traditional barriers
  3. Increase the world’s understanding of rare diseases

What the Framework’s themes underpin

Read our breakdown of what the new UK Rare Disease Framework’s five themes mean for the rare community moving forward!

Theme 1: The patient voice is vital to rare disease progress and change

Policy makers now understand that rare disease patients are the experts when it comes to their rare condition. They have the knowledge and lived experiences needed to understand a specific rare disease, which is why the patient voice must be heard when discussing and deciding on new rare disease treatments, programmes and services. Collaboration and representation from Black, Asian and Minority Ethnic (BAME) and diverse groups are also needed to ensure that services and treatments benefit all rare patients.

Theme 2: Collaboration across countries and sectors

Collaboration is essential to progressing rare disease care and research, which is why the four nations pledge to work alongside each other and the world to advance rare disease treatment, policy and care.

Theme 3: Improve research funding

The four nations want to revitalize UK research and development by increasing public spending, especially for rare diseases. They aim to hit the following financial targets:


  • Increase public spending to £22 billion per year by 2024/2025
  • Spend 2.4% GDP on research and development by 2027

Theme 4: Increase data sharing

Data sharing is the key to increasing efficiency, the patient experience and rare disease research. Patient data from registries must be easily shared and accessible by those who are responsible for patient care, as well as those seeking to develop new treatments. Data sharing can help identify non-genetic rare diseases, which otherwise would have gone undetected by screening programmes and genomic testing.

Theme 5: Alignment of rare disease policy with mental and social healthcare

Living with a rare disease is not just a physical experience, which is why the four nations want to align the new UK Rare Disease Framework with other services that support the rare community. The new UK Rare Disease Framework will focus on aligning its policy with wider mental health, social care, specialist educational support and long-term workforce planning services and efforts.


We hope that this blog makes understanding the new UK Rare Disease Framework simple and straightforward.

If you want to read the new framework in full, please follow the link below:

New UK Rare Disease Framework