University helps develop rare disease plan for Wales

With an estimated 6,000 rare diseases affecting more than 3.5million people in the UK, including an estimated 150,000 people in Wales, the Welsh Government has responded by launching Wales' first rare disease plan.

Developed in conjunction with world-leading geneticists at Cardiff University, NHS in Wales and Rare Disease UK, the Wales Rare Disease Plan aims to ensure the efficient use of expertise and the targeted use of health care resource to improve detection, diagnosis, and prevention of rare diseases, as well maximising the benefits for all patients and families affected by a rare disease.

Launched on Rare Disease Day at the University's Institute of Medical Genetics, the Plan is also one of the first plans to be published in the countries of the UK setting out a detailed set of actions on rare diseases.

The five areas identified to help achieve the aims of the plan are: empowering those affected by rare disease; identifying and preventing rare diseases; diagnosis and early intervention; coordination of care; and the role of research.

Welsh Government Health Minister Mark Drakeford, who launched the Plan, said: "By their very nature rare diseases offer specific challenges to the NHS. There are many such diseases and in any given area there may be very few people affected by any one disease.

"To achieve the best results we need to support the families concerned by engaging and co-ordinating the contribution of primary care, available everywhere, and various specialised services, which may operate only at regional, national or even international level. 

"Accordingly, this draft Implementation Plan has been prepared by a Task Group which has brought together the NHS in Wales, the Welsh Government, the third sector and the research community and close links have been maintained with government officials and other interests across the United Kingdom. 

"Because of the complexity of the issues surrounding rare diseases and the fast changing science that will help determine how cases are managed, the four Ministers have agreed to the establishment of a United Kingdom Group Rare Diseases Advisory Group which will maintain a continuing overview of the wider issues relating to the management of this agenda across the four countries.

"Within Wales I am establishing an Implementation Group to oversee the implementation process and keep the plan fresh and relevant and liaise with the NHS and other interests, taking advantage of developments in Wales and elsewhere in the United Kingdom."

Professor Julian Sampson, Director of the Wales Gene Park and Head of the Institute of Medical Genetics, said: "The Rare Diseases Delivery Plan for Wales marks a huge step forward in recognising and prioritising the needs of people and families affected by rare diseases. There are many thousands of rare diseases, most of them genetic in origin.

"In Wales, professionals involved in research into rare diseases have always worked seamlessly with the NHS and with patients and their families to ensure that progress is made and moved rapidly into clinical practice. This close working has been reflected in the involvement of the University's researchers in producing the Plan.

"The high priority given to research in the Plan is very clear. Research is one of five themes that the plan focuses on and it also underpins each of the other themes, by providing an ever increasing evidence base for all aspects of care. The Plan makes very clear the need for ongoing commitment of Cardiff University, the Wales Gene Park and other research organisations to improve the lives of those affected by rare diseases."

• A rare disease is defined as a disease affecting fewer than five in 10,000 of the general population and in the UK approximately one in 17 people will be affected by a rare disease in the course of their lives.
• In Europe there are an estimated 25-30 million people with a rare disease – approximately 6-8% of the population.
• Approximately five new rare diseases are described in medical literature each week.
• 80% of rare diseases have identified genetic origins.