Rare disease action plan

Dr Jonathan Berg, Senior Lecturer and Honorary Consultant in Clinical Genetics, University of Dundee

Outgoing Chair of the Scottish Rare Disease Implementation Board (2021-2022)

The UK Rare Disease Framework has provided us with a platform for real change in Scotland. With this, and with the flexibility of our own Action Plan we are able to take a different approach than perhaps what we have seen in the past.

Scotland's Rare Disease Implementation Board (RDIB) was convened to respond to the priorities of the Framework, and work towards Scotland's Action Plan for Rare Disease, the first iteration of which I am delighted to see published. Over the course of RDIB meetings to date, we have explored in 'deep dives' how to get the best out of our forthcoming registry, the ways in which we can support the Awareness Raising priority, and how to encourage participation in research and unlock barriers to rare disease research.

To enhance our understanding of action required to shorten the diagnostic odyssey and improve care coordination, we created working groups within RDIB which were tasked with investigating these issues. From this work we already have gleaned valuable insight into the challenges faced by healthcare professionals, and also models of good practice to progress our response to the Care Coordination priority. Now that we are moving to the first stage of implementing our Action Plan, we have stood up further working groups with RDIB that will bring together the required expertise and interests to act on the priorities herein.

Along with the crucial lived experience that our Patient Voices Advisory Group has fed in, all of this work has informed the first iteration of Scotland's Action Plan for Rare Disease. As we move now to publication and implementation, RDIB and our wider governance structure will continue to support improving the lives of people living with rare diseases in Scotland.

I would like to thank all RDIB members for offering their time, expertise, and experience to our deliberations during my time as Chair. I know that RDIB will continue to take advantage of developments in genomics, care pathways and research, ensuring an approach that is flexible and future-focused.