Around 437,000 people in Scotland have a rare disease. It is therefore important that the NHS and other services provide this large and diverse patient population with the best possible care. The UK Government published the new UK Rare Diseases Framework in January, listing the priorities and underlying strategic themes and detailing how the four nations of the UK will address the challenges faced by those living with rare diseases.
As part of that ongoing commitment and with the support and advice of the rare disease strategic oversight group, the Scottish Government published their final progress report, which assesses the implementation and progress against the 51 commitments in the UK strategy and their own implementation plan, “It’s Not Rare to Have a Rare Disease”.
In developing a new action plan for Scotland, the Scottish Government will work closely with the rare disease community to ensure that their needs are appropriately reflected across wider Government policy too, including mental health and social care, that all the commitments are actionable and measurable, and that the patient voice remains at the heart of the new action plan. The Scottish Government will establish a new rare disease implementation board to oversee the action plan and further details will be in the action plan due to be published this year.
Recognising a gap in Scotland’s population health charter, work is now well under way and established on a national congenital anomalies register for Scotland—CARDRISS. Once fully established, it will register babies affected by a major structural or chromosomal anomaly or recognised syndrome.
While the congenital anomalies register is still being developed, a great benefit has already been seen just by linking historical datasets to provide, for the first time in Scotland, a record of congenital anomalies. The dataset and the register are beginning to help inform the planning of services for individuals and families affected by congenital anomalies and rare diseases. Once the register is live, it will also allow NHS Scotland to support the prevention of anomalies where possible, understand the impact of antenatal screening and support research.
The Scottish Government have also made great progress in delivering genomics medicine in Scotland. An allocation of £4.2 million over a two-year period by the Scottish Government supported the transition of genomic testing of inherited rare disease from the research setting into regular genetic testing services. As a result, more families have been able to get the right genetic test and receive an often long-awaited diagnosis, enabling them to get the support and treatment they need. A well-established network of clinicians and clinical scientists has been delivering evidence-based genetic testing for NHS Scotland patients for more than 30 years. Continuing advancements in genomics medicine improve a range of factors for rare disease patients, including diagnosis, access to treatment and co-ordination of care.
In Scotland, access to new medicines for rare, very rare and end-of-life conditions is significantly increased through a new ultra-orphan medicines pathway, introduced in October 2018, ensuring that those with the rarest diseases will get faster access to new treatment where appropriate. In the light of the benefits seen from the use of genomic medicine, the Scottish Government are increasing their investment in this area to £2.3 million, as announced in the new Scottish Budget. The investment will support the implementation plan and the plan will set out actions aligned with the three pillars in the strategy—diagnosis and personalised medicine, prevention and research. The Scottish Government will work closely with NHS Scotland laboratory genetic services to continue their approach to embed genomics in routine healthcare. Families and patients need to know that wherever they live in the UK, their Government are committed to the framework and to making it work. Does the Minister agree?