Rare diseases action plan: progress report

8. 2024-25 Priority areas

Faster diagnosis

Supporting the development of NHS Scotland Genomic Services

We understand the importance of getting a rapid and accurate diagnosis. Many people with a rare condition receive their diagnosis through genetic testing. The Scottish Genomes project and a parallel CSO funded health economics project has demonstrated the value of early genomic testing in rare disease diagnosis and as a result improved access to care.

Our focus this year will be to work closely with the genomics leads in the Scottish Government and the SSNGM to ensure that the needs of the rare condition community shape how Scotland’s new genomics strategy is implemented and how our genomic services develop to ensure equitable access across Scotland. It is important to ensure that people in Scotland receive as equitable a standard of care and access to testing as the rest of the UK and that available testing is aligned as far as possible but is also responsive to clinical needs in Scotland. As part of the SSNGM transformational programme, the Scottish test directories will be mapped against those offered in England, Wales and Northern Ireland to identify gaps and divergence. Where the test directories do differ in terms of test methods, turn-around times or referral criteria, there should be a clinical and scientific rationale as to why this is the case, and clear communication with health care professionals, clinical networks and service users.

Support for people with undiagnosed conditions

Effective care and treatment is essential for everyone, including those with undiagnosed conditions. This year we will work closely with our colleagues in England and Wales to understand the SWAN clinic pilots they are undertaking, and it is hoped that we may be able to identify learning from these approaches which could improve care for patients with undiagnosed conditions.

We are also keen to hear directly from those living with rare conditions to understand from them what could be done to improve the care and experiences of people with undiagnosed conditions. We will work with our third sector partners and explore further opportunities to discuss with the community directly.

Support for people with non-genetic conditions

Around 20% of rare conditions do not have a genetic cause and people with non-genetic rare conditions continue to experience challenges in receiving diagnosis and accessing appropriate care and treatment. It is important that we increase our understanding of the experiences of people with non-genetic rare conditions and what more could be done to support them.

In 2024-25 we will work with our key partners, which will include the third sector, healthcare professionals, and patients and their families, to build upon the findings of the VOICES study and its recommendations to understand the challenges they face and what actions could be taken to improve their care.

Awareness raising

Increasing awareness of rare conditions amongst healthcare professionals

Raising awareness and understanding of rare conditions amongst healthcare professionals remains crucial to improving the quality of care and treatment of those living with a rare condition.

We will continue to prioritise opportunities to raise awareness of rare conditions amongst healthcare professionals. The findings of the Genetic Alliance UK and the Office for Rare Conditions Glasgow healthcare professionals survey will inform our 2024-25 awareness raising and education activities.

We also recognise the vital role that third sector organisations play in increasing awareness of rare conditions and will continue to work in partnership with them to enable opportunities for further awareness raising.

Supportive resources

We have made some progress in our considerations of what resources should be put in place to support healthcare professionals in recognising rare conditions. We will explore opportunities to develop easily digestible and accessible resources that will support healthcare professionals to better understand rare conditions and the pathways that may be available.

Future Care Planning

We consider the development of a new Future Care Plan as an exciting opportunity to improve the care and treatment of those with a rare condition. We will focus work to support the programme developing Future Care Planning to ensure the needs of the community are considered as part of the development of the new care record.

Improving access to specialist care and treatment

Clinical research for rare conditions

Clinical research is an important part in the development of and approval of new treatments for rare conditions. In 2023-24 we convened two Short Life Working Groups to consider opportunities to strengthen research on rare conditions in Scotland. The recommendations made were extensive and wide ranging. They sit across many different areas in Government and across different areas of the health and social care delivery landscape. In 2024-25 we will explore how best to take forward these recommendations in partnership with the appropriate delivery partners.