Rare disease action plan

Scotland’s first action plan for rare disease sets out the actions that we, our NHS, partners and stakeholders will take to improve the lives of people in living with a rare disease. The plan supports the shared priorities of the 2021 UK Rare Diseases Framework.

2. Strategic Context

UK Rare Diseases Framework

The UK Rare Diseases Framework was published on 9 January 2021.[4] Co-produced by the UK Government and devolved nations, the Framework set out the key priorities for the next five years in improving the lives of people living with rare diseases. Each nation committed to producing their own Action Plan based on how these key priorities will be implemented.

The key priorities identified in the Framework – faster diagnosis; awareness raising; care coordination and improving access to specialist care and treatment – came from a programme of engagement with the rare disease community. This included the National Conversation on Rare Diseases Survey, which ran for six weeks from October 2019 and received over six thousand responses. The findings were then discussed with the UK Rare Diseases Policy Board, the UK Rare Diseases Framework Editorial Board, and with NHS England's Rare Diseases Advisory Group. A summary of the findings can be found within the published Framework.

Further engagement with the rare disease community took place via a UK-wide round table, and clinicians, industry, regulatory and research bodies were also consulted. This programme of engagement ensured that the identified priorities were reflective of the lived experience of people with rare diseases.

Governance and Oversight Groups

Once those four priorities had been identified through engagement, and needed to be turned into action, groups were put in place that would govern and enable the development of our response to the Framework.

At the UK-wide level, these groups are the UK Rare Disease Framework Board, which oversees our response to the Framework, and the UK Rare Disease Forum, which is more focused on engagement. Representatives from all four nations have been attending these meetings to ensure that we continue to collaborate as four nations wherever appropriate, and to oversee the development of our four Action Plans. We introduced a 'deep dive' format to the Forum meetings, so that all the representatives could tackle a particular key priority in depth and hear from various spheres of expertise on what resources are available and what improvements could be made.

To oversee Scotland's specific response to the Framework, our Rare Disease Implementation Board (RDIB) was formed, bringing together those with clinical expertise, representatives of patient advocacy groups and other NHS Scotland and third sector representatives to work on the development of our Action Plan.

Action Plan Structure

As mentioned in the introduction, the previous Strategy for Rare Diseases had 51 commitments in its final publication. The problem that can arise when such a list of commitments is published is that they can quickly go out of date or are not as responsive as we would like them to be to new developments.

This is why we have designed Scotland's Action Plan for Rare Disease as an iterative process, meaning that this document is by no means our final Action Plan. This publication sets out the short to medium term actions that we will take over the next 18 -24 months. After this, we will be able to take stock of our progress so far and publish the next iteration of our Action Plan. This flexibility will make us more agile in responding to the constantly changing health and social care landscape, and new developments in treatment, care and research studies. We will continue to review our Action Plan over the next five years in this way.


As health and social care is devolved across the UK, each Action Plan will be implemented in a different healthcare system. We will work with NHS Scotland Boards, and also with NHS Scotland's National Services Division (NSD) to ensure that the actions required to improve the lives of people living with rare diseases can be embedded into standard practice across Scotland. NSD are particularly important here as they deal with national and specialist services for small patient groups, which is often the case for the care and treatment of rare diseases. The "Once for Scotland" strategy that NSD apply to their services will also help with better coordination of care.

NHS Education for Scotland (NES) are a national Board within NHS Scotland, and the education and training body for NHS Scotland. This is important when we consider the Awareness Raising priority from the Framework: where do health and social care professionals go for training and information resources, and how can we tap into these resources to increase the information available for rare diseases? We have established a working relationship with NES, who are also represented on RDIB, and we will continue to work with NES on strengthening and signposting rare disease information resources, as described in the Awareness Raising actions.

NHS Inform is Scotland's national health information service, which aims to provide the people of Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for. NHS Inform hosts information about a variety of health conditions, but until now very little regarding rarer conditions. We recognise that with over 7,000 rare diseases it is not feasible to have information about them all, but we want to have some information about rare diseases featured on NHS Inform, and we will draw on the expertise of our RDIB membership to explore what this should be.

Third sector partners will also be key to implementing the actions from our Plan. Organisations such as Genetic Alliance UK and Medics 4 Rare Diseases, as well as the Office for Rare Conditions (a University of Glasgow-led project, with some charitable funding) all have experience in developing information resources, and we will continue to draw on their expertise and consider ways in which their work can be better signposted for healthcare professionals.

Covid-19 Pandemic

We know that although the Covid-19 pandemic has affected everyone's lives, some have been more affected than others. For people living with a rare disease, the pandemic has often meant difficulties in accessing routine appointments and treatment. Many people with rare diseases have been at higher risk of severe illness from Covid-19, and shielding has led to increased isolation, as well as difficulties in accessing routine appointments and important treatment or care.

We acknowledge that the last two years have added to the challenges faced by people living with rare diseases, and we must ensure that our recovery from the pandemic includes the needs of the rare disease community. As part of our recovery from the pandemic, we are reassessing all our priorities to take a systematic, person-centred approach to planning and delivering health and social care services for the people of Scotland.

As we go through this process of realignment, we are taking time to ensure all our strategies are designed around the people using and delivering health and social care services and working together to improve health outcomes. Over time, our action plan will become more aligned with this work to allow us to get this right and ensure maximum impact for the people who need it. This will ensure that we create a stronger, interlinked Action Plan that has a real impact for people living with rare diseases.

We also want to learn as much as possible from the pandemic, such as the ways in which remote consultations and multi-disciplinary team working have been successful and can be made more commonplace. This can help with care coordination across different specialisms and NHS Board areas.


Email: scott.thomson2@gov.scot

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