First UK-wide rare disease strategy launched

A strategy to improve diagnosis, research, and treatment of rare diseases has been launched by the UK Government.

The UK Rare Diseases Strategy covers services including primary healthcare, specialised clinical centres and targeted funding for biomedical research.

A rare disease is one that occurs in less than one in 2000 people. Collectively, rare diseases affect more than three million people in the UK, and more than 5000 rare genetic diseases have been identified.

The strategy aims to increase support for rare disease patients and their families from healthcare services. It will also offer support for specialised clinical centres and training for health and social care professionals to improve rare disease diagnosis and access to treatment.

The National Institute for Health Research is establishing a Rare Diseases Translational Research Collaboration, with funding of £20 million over four years to build on existing UK expertise in rare disease research, including genomic research.

Alastair Kent, chair of Rare Disease UK, part of the stakeholder forum that helped shaped the strategy, said that 'while the NHS has demonstrated that it is capable of delivering a world-class service, the experience of patients has been that this is by no means a universal experience. Turning the UK Strategy's aims into practical benefits for patients will require hard work and detailed planning [but] at least patients can have a clear expectation of what the NHS aspires to provide for them'.

Specialised Healthcare Alliance director John Murray warned that 'a robust approach to monitoring must be developed to track the strategy’s impact on patient experience and outcomes'. He noted that given the recent suspension of NHS England’s Specialised Services Commissioning Innovation Fund, 'it is also important to ensure that clear and transparent appraisal processes are in place to encourage the development and uptake of effective new treatments'.