New Rare Diseases Framework sets out promising vision for the future

This week, the Government published its long-awaited Rare Diseases Framework. It replaces the 2013 UK Strategy for Rare Diseases and sets out common priorities for the UK’s four nations to ensure the lives of people living with rare diseases continue to improve. It is a positive step forward in areas such as patients’ access to treatments and the use of genomics in diagnosis, but we will see the final detail in the nation-specific action plans, which are due to be launched later this year.    

The framework sets out four high-level priorities:

  1. helping patients get a final diagnosis faster
  2. increasing awareness of rare diseases among healthcare professionals
  3. better coordination of care
  4. improving access to specialist care, treatments, and drugs

These priorities are derived from a ‘national conversation survey’ of patients, carers, families, patient organisations, healthcare professionals and industry professionals.

The framework’s top priority is to help patients get a final diagnosis faster. With over 7,000 rare diseases in existence, the so-called ‘diagnostic odyssey’ for rare disease patients is often long and detrimental, and some patients never receive a proper diagnosis. It is very positive that the Government plans to use the UK’s excellent genomics capabilities to address this. This shows how far our country’s genomics ecosystem has come since the publication of the 2013 strategy.

From a BIA perspective, seeing patient access to treatments as a key priority is extremely welcome and a clear improvement on the 2013 strategy. The life sciences sector delivers incredible innovation in treatments for rare and ultra-rare diseases, which means medicines are now becoming available in areas of high unmet need. Limited access and uptake continue to be, at times, devastating stumbling blocks for people, carers and families affected by rare diseases, and it is encouraging to see this framework setting out a clear vision to improve this.  

As the Government acknowledges in the framework document, the success of this vision relies heavily on a number of ongoing policy initiatives which aim to improve patients’ access to treatments. These include the Early Access to Medicines Scheme (EAMS), the Accelerated Access Collaborative (AAC), the Innovative Medicines Fund (IMF), and the NICE Methods Review.

The BIA and our Rare Disease Industry Group (RDIG) continue our persistent advocacy efforts through these initiatives and it is especially encouraging to see the IMF being linked to the Government’s vision for rare diseases. While these initiatives bode well for the future of people affected by rare diseases, the BIA and RDIG believe that larger scale change is needed. You can see what our own vision looks like in our recently published report, A rare chance for reform.

The next step (the second phase of the framework) is for the four nations to develop their action plans to achieve the four priorities. At the BIA, we look forward to engaging with this process to ensure people affected by rare and ultra-rare diseases can access the life-changing treatments they need.

Mads Thomsen

Policy and Public Affairs Executive


Mads joined the BIA in January 2020 as a Policy and Public Affairs Executive. He previously worked in pharmaceutical exports, handling tenders and shortage supplies to various markets across the world.
Mads is originally from Aalborg, Denmark and holds an MA in International Relations and Political Science from the University of Birmingham.
In his spare time, Mads likes playing football, running, and swimming as well as travelling to new destinations.