Written question WQ96629

Wales is committed to working with the rest of the UK to deliver the ambitions set out in the UK Rare Diseases Framework (2021-2026). The Wales Rare Disease Action Plan outlines our approach to achieving the framework priorities and is coordinated by the Rare Disease Implementation Network (RDIN) – part of NHS Wales Performance and Improvement. It sets out the changes we will make to improve outcomes and experiences for people with rare diseases.

There is no requirement for health boards to have designated clinical leads for rare diseases or to feature rare disease in integrated medium-term plans. Each health board will have pathways of care in place in different specialties to treat rare diseases, for example, rare cancers. Wales has a National Clinical Lead for Rare Diseases within RDIN, and the network engages with a wide range of clinicians, academics, third sector organisations, and other national clinical networks to deliver work in areas of mutual interest.

The Welsh Government has issued guidance to health boards and NHS trusts to support children and young people to move between children’s and adult’s services. Work is underway to create an All-Wales Digital Rare Care Centre to improve transition for people with rare diseases by creating a single information and resource platform for use by clinical teams. Digital Health and Care Wales has developed a rare disease data dashboard which will be available this year and support RDIN to better understand patient experience.

Wales has a national rare disease registry – the Congenital Anomaly Register and Information Service (CARIS), hosted by Public Health Wales. It provides reliable data on congenital anomalies in Wales and includes rare diseases detected through the Newborn Bloodspot Screening Programme or later in life. CARIS has also established the Adult Rare Disease Register, which collates and provides high quality population-level data on rare diseases in the adult population. The scope of the register continues to expand to support surveillance activity and inform healthcare service delivery.

Clinical trials are essential for deepening our understanding of rare diseases and refining treatment options. Recognising the vital role of research in advancing healthcare, Health and Care Research Wales (HCRW) receives £46m every year to support innovation and improve outcomes.

While commercial and non-commercial rare disease-related trials are currently open to recruitment across Wales, efforts are underway to expand patient access to research opportunities – including through the development of a Rare Diseases Research Network for Wales, the appointment of a specialty lead for rare disease research, and integration with the Be Part of Research Initiative.

The UK Rare Diseases Framework is due to conclude in January 2026. I recognise the need for continued collaboration at a UK-level regarding rare diseases, and discussions are underway between officials from the four nations to consider potential future arrangements.