The UK's first-ever plan for rare diseases, which seeks to ensure earlier diagnosis and better coordinated care for people with diseases affecting fewer than five in 10,000 of the population, is now out for consultation.

The consultation document, published by the Department of Health, calls for the use of specialist centres to make exact diagnoses, to make sure people are treated earlier - in some cases this could save lives, it says. It also states that all doctors should have the right training to be aware of the possibility of a rare disease, and calls for patients' care to be better coordinated, in order to save them time, money and inconvenience.

An example of where this is being achieved is the national service for patients with the inherited skin condition epidermolysis bullosa. This provides a "one-stop shop" so that patients do not have to attend separately to see the dermatologist, dietician, chiropodist, dentist, etc.

Commenting on the consultation, Health Minister Lord Howe said 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 coordination 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 coordinated, 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 A recent unpublished study has shown that better care of patients with rare neuromuscular diseases could save the NHS £31 million per year by avoiding emergency admissions," he added.

NHS Medical Director Bruce Keogh also welcomed the proposals, and pointed out that, in England, much of the implementation of the final plan - which is due to be produced by the end of 2013 - will be for the NHS Commissioning Board to take forward in its role as single, national commissioner for specialised and highly-specialised services.

Alastair Kent, chair of the Rare Disease UK alliance, said that patients affected by rare diseases and their families will be pleased to see recognition of their needs being addressed in a systematic framework. The plan "offers the opportunity to ensure a timely response by the NHS to patients' needs, and to ensure the effective integration of services and the use of scarce knowledge and resources, whilst creating a framework for sustained R&D of innovative solutions to long-standing needs," he said.

75% of rare diseases affect children and 30% of children with a rare disease die before their fifth birthday, added Dr Jane Collins, chief executive of Great Ormond Street Hospital.

"Developments in medical science and technology mean that we need to press forward with research into diagnosis and better treatments," she said.

The Association of the British Pharmaceutical Industry (ABPI) said it - and in particular the ABPI Orphan Medicines Industry Group - will respond to the consultation to ensure that the central, crucial role that medicines play in treating rare diseases is fully represented in the strategy.

"It is important that this plan is genuinely effective and reflects the very specific needs of the rare disease community - the patients living with rare conditions, the clinicians working in this important area and the pharmaceutical companies that work to develop the orphan medicines that are used to treat rare and serious conditions," said ABPI chief executive Stephen Whitehead.

* The consultation was launched yesterday, World Rare Disease Day, and follows the European Council's recommendation that all European Union (EU) member states should develop a national strategy on rare diseases.