Scotland’s Rare Disease – Final Progress Report

Ahead of Rare Disease Day 2021, the Scottish Government published their Final Progress Report, which evaluates how Scotland has improved against the 51 commitments outlined in the 2013 UK Strategy for Rare Diseases

2013 UK Strategy for Rare Diseases Themes

The 51 commitments outlined in the 2013 strategy covered five themes:

  • Empowering those affected by rare diseases
  • Identifying and preventing rare diseases
  • Diagnosing and early intervention 
  • Co-ordination of care
  • The role of research

The progress report acknowledges that not all 51 commitments were completed but that progress has been made in all areas. Where progress is still needed, it will be addressed in the next action plan as part of the new UK Rare Diseases Framework

Celebrating the Successes

There are three key areas that have contributed to the development in rare diseases since 2013. The congenital anomalies register (CARDRISS), improvements in genomic testing for inherited rare diseases and the multi-stakeholder rare disease forum whose findings will feed into the next iteration of rare disease policy. 

Challenges Remaining

The report also outlines some of the remaining challenges for the rare disease community such as the impact of Covid-19 however, it has highlighted some key learnings to take forward. International collaboration is very important for the rare disease community and there is some uncertainty around this as the UK has left the EU. There is an acknowledgement that communication between policy makers and the community needs improving in order to capture the priorities of people affected by rare conditions. Finally, although great progress has been made in genomics in Scotland, further improvements must be made to maximise the benefits of genomics.  

The Next Steps

Going forward, the Scottish Government will establish a new Rare Disease Implementation Board to oversee the development of Scotland’s action plan as part of the UK Rare Diseases Framework. Emerging health policies will take into consideration the rare disease communities and it is expected that a Scottish Genomics Healthcare Implementation Plan will be published in 2021/2022.

Genetic Alliance UK is looking forward to working closely with the Scottish Government on its proposed policies for genetic and rare conditions and we are committed to involving people living with rare, genetic and undiagnosed conditions in the conversation. 

If you want to find out more or get involved, you can sign up for updates or register to become a member of our Virtual Involvement Panel in Scotland.

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