Rare diseases action plan: progress report

Ministerial foreword, Jenni Minto MSP, Minister for Public Health and Women’s Health

It is not rare to have a rare condition. Rare conditions may be individually rare, but they are collectively common: it is estimated that around 412,080 people in Scotland have a rare condition and there are around 7000 known rare conditions, with new conditions being discovered every year.

Due to their rarity, people living with rare conditions face specific challenges with the health and care system, and with wider public services. This is also a significant challenge for our healthcare services, with thousands of different rare conditions and each one can require different treatment and support, some of which may be highly specialised.

It is therefore important to reaffirm the Scottish Government’s commitment to continuing to improve the lives of people living with a rare condition. And it remains vital that we continue to strive for improvement and ensure that all those living with a rare condition get the right diagnosis faster and can access coordinated care and specialist treatment.

In January 2021, the four nations of the United Kingdom worked together to publish the UK Rare Diseases Framework. This document outlined national priorities for improving the lives of those affected by rare conditions. The Scottish Government responded with our own Scottish Action Plan for Rare Disease, published in December 2022. This plan set out the actions we'd take in Scotland to address the Framework priorities.

Two years on, in our first Progress Report we highlight where progress has been made and take a significant step forward in transforming the collective priorities of the UK Rare Diseases Framework into substantial and real action.

The Scottish Government have shown strong leadership in addressing the concerns faced by the rare diseases community since 2022. Despite a challenging operational and fiscal environment for our health services, we have made progress in a number of areas. Highlights have included:

1) The launch of a rare conditions page on NHS Inform – we know this will become an important resource for people, and their families, living with, or awaiting diagnosis of a rare condition. We are committed to continually improving the page, based on feedback from the community.

2) The new national Congenital and Rare Conditions Register went live and has begun registering babies. Over time this will become a valuable source of data that will inform our policies and healthcare planning.

3) We supported the development of the new national strategy for genomics, which was published in April 2024. With a focus on cancer and rare and inherited conditions, the new five-year strategy sets out how genomics can be best used in the NHS. We know genomic medicine has the potential to revolutionise healthcare, especially in terms of diagnostic timescales and access to treatments for people with rare conditions and we will continue to ensure those living with a rare condition benefit from this rapidly evolving area of healthcare.

While we have made good progress, we have always said that this is a challenging plan that will take time to deliver. We also committed to evolving our plan to take account of new developments. That is why this report also sets the 7 priority areas that we will take forward over 2024-25:

• supporting the development of NHS Scotland genomic services
• support for people with undiagnosed and non-genetic conditions
• awareness raising and development of supportive resources
• future care planning
• exploring how to take forward our Short Life Working Group recommendations to improve clinical research for rare conditions

I am under no illusion of the scale and difficulty of the challenges we are trying to address.

The Scottish Government is absolutely committed to ensuring that all people living with a rare condition are able to access the best possible care and support, and benefit from healthcare services that are safe, effective, and person-centred. I am confident that the priorities set out here will ensure we continue to take steps towards achieving our overarching vision - delivering improvements in diagnosis, awareness, treatment and care, and creating lasting positive change for those living with rare conditions.

Jenni Minto MSP