A new report suggests that the majority of people living with rare diseases in the UK are unable to access suitable medical expertise to help explain and manage their conditions.
 
Rare diseases – many of which are primarily genetic conditions – are those that affect fewer than one in 2000 people. However, collectively these diseases are not rare, affecting one person in 17 at some point in their lives in the UK, for example, and many are very serious medical disorders (see previous news).
 
Launched on global Rare Disease Day (28 February 2011), Improving Lives, Optimising Resources, the new report from Rare Disease UK (RDUK) highlights an alarming lack of medical professionals who understand rare conditions, long delays in diagnosis, and an absence of systems to allow people to access adequate medical and psychological information and support.
 
The report sets out recommendations for a national strategy to address these problems and make the most effective use of health service resources in delivering improved diagnosis, care and treatment, and research into rare diseases, drawing on resources from academia, industry, patient groups and medical research charities. The proposals include:
  • revision of the current newborn screening programme (see previous news)
  • establishment of a reliable online information portal
  • development of personalized care plans for patients with rare diseases
Referring to the recommendations of the report, RDUK Chair Alastair Kent commented: “Many of the actions proposed can be taken now with little alteration of existing practices, immeasurably improving the quality of life of millions of people. We must act now”.

This is an important example of how co-ordinated action and systems to allow information sharing and equitable access to services can deliver significant health improvements; it is to be hoped that the UK National Health Service will consider the report very carefully. 

Dr Hilary Burton, Director of PHG Foundation, who chaired the Working Group on Research for the Report, also noted the importance of strengthening research programmes on rare diseases, which is much more difficult when patients are few in number and widely dispersed. There is a need to support collaborations, develop rare disease registries and streamline the systems for research and development approval and implementation.  

 

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