Delivering for patients with rare diseases: Implementing a Strategy

A report from the UK Rare Disease Forum

Today (Monday 29 February) on international Rare Disease Day, the UK Rare Disease Forum (the group charged with monitoring the implementation of the UK Strategy for Rare Diseases) has published its first progress report. The report recognises that there has been significant progress across the UK but much remains to be done to meet the needs of the millions of people affected by rare diseases.

The UK Strategy for Rare Diseases, launched in November 2013, is a shared vision for improving the lives of all those with rare diseases. There are 51 commitments in the UK Strategy that each UK country has agreed to take forward by 2020. Effective implementation of the UK Strategy for Rare Diseases will help to secure the best use of available resources, maximise the health gain for all those with rare conditions and create a framework for the research necessary to support the development of innovative therapies for unmet medical needs.

The report from the UK Rare Disease Forum recognises that there has been significant progress towards delivering the commitments in the UK Strategy. For example, the 100,000 Genomes Project will transform molecular diagnostics across the UK and the creation of a unified registry of rare disease patients by Public Health England will have a significant impact on assessing, planning and research for rare diseases.

However, as ‘rare diseases do not recognise national boundaries’ the UK Rare Disease Forum is calling for the four nations of the UK to work together to meet the needs of patients. Collaboration is essential if the National Health Services in the UK are to deliver the specialist and coordinated care required for patients affected by these multisystem conditions.

The Chair of Rare Disease UK, Alastair Kent OBE said:   “The publication of the first report of the UK Rare Disease Forum is a key stage in the implementation of the Strategy published by the UK Health Ministers in 2013. There has been solid progress in many areas, notably in research and the setting up of the National Congenital Anomaly and Rare Disease Registration Service.  The needs of patients and families with rare diseases are now acknowledged in ways that would have been unimaginable only a few years ago, but much remains to be done to meet the ambitious commitment to improve care and support for rare disease patients in the original strategy by 2020. I am confident that this goal is an achievable one, given the commitment of the Government and the NHS to delivering on the promise made to the 3.5 million people living with rare diseases in the UK today.”

Life Sciences Minister, George Freeman MP said: “This report highlights the huge benefit that initiatives like our 100,000 Genomes Project and our £1bn per year National Institute for Health Research bring to people living with rare diseases and their families.”