The first UK Strategy for Rare Diseases has been published by the Department of Health.
Rare diseases are those that affect fewer than five people per 10,000; most (though not all) are genetic diseases. Whilst individually rare, together such diseases affect a substantial proportion of the population (around 3.5 million in the UK), especially children. Many rare diseases are very serious, requiring complex care.
The new strategy, following on from a DoH consultation last year, has been a long time coming, being part of European push for effective care services for rare diseases following a European Council Recommendation made in 2009. Rare Disease UK (RDUK), a national alliance of stakeholders, has been campaigning to put a strategy in place since that time.
It aims to ensure that health and social care systems in the UK provide earlier diagnosis and high quality evidence-based and well-coordinated medical and social care. The strategy is the work of the UK Rare Diseases Stakeholder Forum, a group of experts from different areas, including the PHG Foundation’s Director Dr Hilary Burton who gave advice about possibilities for prevention. This group will maintain external oversight of implementation of the strategy.
Key features of the strategy include provision of specialised clinical centres to ensure rapid diagnosis and expert care and support for patients and families; individual personal care plans for each patient (covering both health and care services); education and training for health and social care professionals to help ensure earlier diagnosis and access to treatment; and £20 million funding for a new NIHR Rare Disease Translational Research Collaboration to improve the understanding and treatment of rare diseases. Genomics England has already partnered with Illumina and the NIHR Cambridge Biomedical Research Centre to undertake whole genome sequencing and analysis of rare disease patients and families as part of the 100,000 Genomes Project (see previous news).
Speaking at the launch of the strategy, Health Minister Lord Howe said: “For the first time, we are strengthening the links between research and the treatment and care of patients with rare diseases. This is about putting those patients first, with better diagnosis, treatment and support for them and their families”.
Alastair Kent (Chair of RDUK) observed: “We must keep in mind that the publication of the Strategy is just the beginning of the process, there is lots more work to do. Implementation is now the number one priority”. The individual nations of the UK (England, Scotland, Wales and Northern Ireland) will publish plans on how they will implement the strategy within their own National Health Service (NHS) systems in February 2014.
Commenting on the new strategy, Dr Hilary Burton noted: “One of the greatest challenges will be to ensure that the possibility of a rare disease is flagged up and acted upon wherever the patient presents in the health system – be that primary care or any of the health specialties. This is not just about how we commission and provide specialised services, but about pathways of care between services for this special group of patients”.