Written question WQ85886

The Rare Disease Implementation Group (RDIG), following the publication of the UK rare disease framework in January 2021, developed a rare disease implementation plan which was published on 16 June 2022.

Within the plan there are a number of actions including the development of exemplar pathways and evaluating the pilot of the Syndrome Without A Name (SWAN) clinic. The SWAN clinic is open to paediatric or adult referrals across Wales and aims to improve the diagnostic journey, coordination of care and access to specialist care, and increase rare disease awareness among healthcare professionals. There are no plans to pilot any further services at this time.

The aim of the plan is to improve the outcomes for all rare disease patients regardless of their condition. It should be recognised that it is not possible to provide pathways or services for every rare condition in Wales and some patients will need to access treatment at specialist centres in England.

Welsh Health Specialised Services Committee (WHSSC) commission many of the specialist services which may be required to support people living with or at risk of a rare disease. They have a clear process in place for the evaluation and prioritisation of new specialised services which is undertaken on an annual basis.

RDIG, in conjunction with WHSCC, health boards and other partner organisations, will be responsible for the prioritisation, delivery and oversight of the plan.