Rare disease action plan

Annex: Underpinning Themes

The priorities and actions set out in this plan are crucial to improving the lives of those living with a rare disease. We also recognise though that there are a range of activities and actions that will require implementation outwith the four main priorities. The Framework identified five underpinning themes in which work will continue to be progressed to support the priorities and contribute to improving the lives of people living with rare diseases.

The work on these themes will be embedded into our actions on the key priorities.

In addition to doing so, the information below sets out a summary of our commitments to each underpinning theme below.

Patient Voice

People living with a rare disease are best placed to shape and influence our policies on rare diseases. We recognise this and have embedded the voice of those living with a rare disease into the government of our Action Plan. However we also recognise the need to identify the best method of engagement to ensure it doesn't add a burden on to patients and carers. We will work with rare disease organisations to achieve this, taking advantage of existing groups and platforms wherever possible.

National and international collaboration

The small numbers of patients with individual rare diseases make collaboration essential, both for the support of patient care and the delivery of robust research. We are committed to continuing collaboration with the rare disease community across the world, including patients, healthcare professionals, researchers, and industry, to share knowledge and ideas to improve outcomes.

We will continue to work closely with our counterparts in the UK Government and the other devolved administrations to ensure close alignment of the rare diseases Action Plans that each of the four nations has developed.

One key area of collaboration is on national registries for congenital anomalies.

Pioneering research

Participation in research, and promotion of opportunities for research, play vital roles in how our healthcare is delivered and improved. We have set out a clear action in this plan on how we might address this. This is at the centre of all we do. For people living with a rare disease, research can fulfil unanswered questions that may support a diagnosis, cause, symptoms and treatment for many rare diseases.

The Scottish Government, through the Chief Scientist Office (CSO), has established and maintained an active programme of co-funded research with third sector organisations, including research in rare diseases.

NHS Research Scotland is committed to actively involving patients, those who care for them and the public in all aspects of the research process. This includes shaping future research activity and there are currently supporting more than thirty genetics studies, about a third of which are led from Scotland.

We will continue to work with CSO and the NHS Research Scotland infrastructure to enable more opportunities for people with rare genetic diseases to participate in research, which in turn leads to improved care and the development of new treatments.

Digital, data and technology

Across health and social care, we are using data more efficiently and effectively than ever before, empowering patients to take better control of their health and care journey. The Covid-19 pandemic has increased our reliance on digital developments and accessible data, and we want to harness these advances to create a more seamless digital experience in healthcare moving forwards.

As referenced earlier in the plan, the Digital Health and Social Care Plan and subsequent delivery plan will be central to this underpinning theme. While not specific to rare diseases, the Digital Health and Social Care Plan sets out a number of actions which will benefit people living with a rare disease by improving access to care, reducing the burden of coordinating their care and improving access to the information they need to live their lives.

Wider policy alignment

We recognise that the impact of living with a rare disease is much wider than just a person's health. Due to the nature of their condition, many people living with a rare disease require housing adjustments, social care, financial aid, mental health support and special educational needs support. Wider policy development in these areas must reflect the needs of those with rare conditions.

Over the long term (3+ years) and linked with our patient voice priority we will work with policy makers across Scottish Government to put forward the needs of the rare disease community when developing policy. Given the importance of genomics in improving diagnosis for some rare diseases, and to support new research into potential treatments, our plans will align with our Genomics Implementation Plan, as well as other relevant strategies and policies.

We will work with policies across the Scottish Government to ensure those living with a rare disease are represented during the development of relevant policies.