The UK Strategy for Rare Diseases

Last week, the UK Strategy for Rare Diseases was launched by the Department of Health, which sets out targets to improve and standardise care for rare disease patients across the UK. The strategy concentrates on five main areas: empowering patients; identifying and preventing rare diseases; diagnosis and early intervention; coordination of care; and the role of research.

Patients are described as the “greatest untapped resource of information” about disease in the Salzberg statement of shared decision making (Salzberg Global Seminar, 2011), and ensuring patients are included in decisions about their healthcare is currently high on the political agenda (No decision about me, without me). The UK Strategy for Rare Diseases aims to improve diagnosis, care pathways and services for rare disease patients by asking for patient feedback. The Health Departments will also work with patient organisations, such as Orphanet and Rare Disease UK, where possible to ensure that patients and their doctor are provided with reliable information about their disease and the services available to them.

A high proportion of rare diseases affect children and are present at birth, whether due to a genetic, environmental or developmental cause. The strategy will work to improve screening programmes so that at risk children are identified and treated as soon as possible to prevent or reduce the severity of disease.

Some rare diseases have a significant “diagnostic odyssey” with a small proportion of patients waiting decades for a diagnosis. The strategy aims to streamline diagnosis, thus allowing patients to get more timely care and treatment. This will be done by providing primary healthcare professionals, like GPs, with improved tools and ongoing training to recognise the symptoms of rare diseases. The “diagnostic pathway” will also be coordinated between services so that patients don’t have to start again if a test comes back without a conclusive result.

Many rare diseases require medical expertise from multiple specialties. The UK Strategy for Rare Diseases wants to improve co-ordination between specialties in order to improve patient care and to minimise disruption to patients’ daily lives. This could be done by setting up centres of excellence, or running multidisciplinary clinics, which would allow patients to go to a single appointment to discuss all of their symptoms, rather than having to go to multiple appointments. GPs are often in the best position to know about an individual’s overall healthcare requirements, and should be supported to manage complicated cases effectively. Additionally, the multiple doctors, centres or hospitals caring for a particular patient should communicate to ensure that they are not working at cross purposes, and in doing so, causing harm to the patient. To aid this, each patient should be given a personalised care plan designed by the health and social care providers that will be involved in their care, and the patient should be allowed to actively participate in their care plan design.

Finally, research on rare diseases is required to determine the natural history, underlying cause and disease mechanisms of many rare diseases, and to develop cures. Improved links between healthcare and research will have the reciprocal benefit of providing researchers with more information about rare diseases, and speeding the translation of new diagnostics or treatments into the clinic.

While this strategy sets out expectations for the whole UK, England, Wales, Scotland and Northern Ireland will be able to implement the strategy individually, depending on local infrastructure and resources. There is a list of 51 specific recommendations in the strategy, which all four nations have committed to implement. All four implementation strategies will be published on Rare Disease Day (28th February) 2014, and all plans are expected to be implemented by 2020. The committee that oversaw the development of the UK Strategy for Rare Diseases will continue to ensure that the strategy is effectively put into action across the UK.

This is a landmark in UK healthcare policy, as it is the first time that there has been an official framework to help develop the best pattern of services for rare disease patients, and it the first time patients have a commitment from healthcare services to receive the best possible care, regardless of what disease they have or where they live. The UK Strategy for Rare Diseases is part of the EU recommendation for all member states to design care plans for rare diseases by the end of 2013.

 

  • Salzburg Global Seminar (2011). Salzburg statement on shared decision making. BMJ (Clinical research ed.), 342 PMID: 21427038

www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.

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