UK Plan for rare diseases consultation launched (web page published2012)

Department of Health seeks views on its plans for rare diseases.


Earlier diagnosis of a rare condition and better co-ordinated care will help improve the quality of life for people with rare diseases and their families, according to the first ever UK plan on rare diseases, published for consultation today by the Department of Health.

Rare diseases - those that affect fewer than 5 in 10,000 of the population - can affect anybody at any stage of their life, and can affect physical or mental health or both. They can range from debilitating, life-limiting conditions to manageable conditions that don’t affect daily living.

The UK already has a strong record of supporting and treating people with rare diseases through dedicated healthcare professionals who provide care for complex conditions, world class research and strong patient engagement. This plan will build on this.

The rare diseases consultation:

  • recommends using specialist centres to make exact diagnosis - this will make sure people are treated earlier and in some cases this could save lives
  • acknowledges that all doctors should have the right training to be aware of the possibility of a rare disease
  • recommends that the care of patients with rare diseases should be better co-ordinated

Health Minister Lord Howe said:

“The UK has a good story to tell about supporting and treating people with rare diseases. But we know the challenges people face and that there is always room for improvement.

“This is the first time the UK has had a coherent set of proposals on rare diseases which outlines how we can build on our strengths through improved co-ordination of services, stronger research and better engagement with patients and their families.

“These proposals will benefit patients and help the NHS to be more efficient and co-ordinated, as well as save money. A recent unpublished study has shown that better care of patients with rare neuromuscular diseases could save the NHS £31 million per year by avoiding emergency admissions.”

Bruce Keogh, NHS Medical Director said:

“I welcome the publication of the consultation document on rare diseases. It clearly demonstrates the importance the Government attaches to the treatment of patients with rare conditions.

“In England, much of the implementation of the final plan will be for the NHS Commissioning Board to take forward in its role as single, national commissioner for specialised and highly specialised services.”


This is a UK-wide consultation undertaken by the Department of Health on behalf of all 4 UK health administrations. The consultation on rare diseases has been launched today following the European Council’s recommendation that every member state of the European Union should develop a national strategy on rare diseases. Responses to the consultation will inform the final plan, which is due to be produced by the end of 2013.

The UK participates in rare disease research at European level and will be actively involved in the new International Rare Disease Research Consortium.

The closing date for responses is Friday 25 May 2012.