The UK Department of Health has launched a new consultation on proposed plans for the first national strategy for rare diseases.
A rare disease is one that affects fewer than five people per 10,000; although they are individually rare, together they affect over 5% of the UK population (3.5 million in all) and so the plans for improving diagnosis and delivering more co-ordinated and effective care could have a significant health impact. Many rare diseases are genetic, and the plan notes the importance of building on recent advances in genomic medicine within the NHS to achieve the desired improvements.
The plan also emphasises the importance of suitable patient engagement, health professional training, active research linked to care, and systems for patient referral and co-ordination between systems, including the transition from child to adult services.
The measures are being developed in response to a European Council Recommendation on European-wide efforts to address rare diseases accepted in 2009. Responses to the proposals are sought by 25 May 2012, though the finalised plan is not expected until 2013.