The UK government has unveiled a new plan designed to improve "support, treatment and research" for people in the country who are affected by rare diseases.
The aim of the UK Rare Diseases Strategy, launched by health minister Lord Howe this morning, is to set out a country-wide vision for building on "our reputation as a world leader in rare disease research, including revolutionary genomic research to help transform diagnosis and treatment".
The key elements of the strategy include what the DoH calls "a clear personal care plan for every patient that brings together health and care services, with more support for them and their families". It will also offer support for specialised clinical centres and "better education and training for health and social care professionals to help ensure earlier diagnosis and access to treatment".
The government has also announced that the National Institute for Health Research is establishing a Rare Diseases Translational Research Collaboration (TRC), putting in £20 million over four years.
A rare disease is defined as affecting five people or fewer in 10,000, and there are already more than 5,000 rare diseases identified. The DoH notes that the total is "steadily rising as new genetic discoveries explain previously unexplained disease patterns" and it is estimated that one in 17 people will suffer from a rare disease in the course of their lifetime; in the UK, this equates to more than three million people.
Lord Howe (pictured) noted that "when looked at as a whole, rare diseases are not rare and our focus should be on making sure that no one who suffers from one is left behind". He added that "for the first time, we are strengthening the links between research and the treatment and care of patients with rare diseases".
He concluded by saying that "the UK already leads the way with ground-breaking research to better understand and treat these illnesses and this strategy will help cement our reputation as the driving force in this field".
Service been less than world-class
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".
He added that "for the first time the four nations of the UK have come together to recognise and respond to the needs of rare disease patients systematically, structurally and in accordance with the founding principle of the NHS that treatment should be a response to need".
Mr Kent claimed that "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".
His comments were echoed by the Specialised Healthcare Alliance (SHCA), whose director John Murray said that “the main challenge will be to ensure that all four nations develop tailored implementation plans to a clear timetable". He added that "the commitment to ensure that all patients with rarer conditions receive an appropriate care plan is particularly welcome".
However the SHCA warned that "a robust approach to monitoring must be developed to track the strategy’s impact on patient experience and outcomes". The group 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".
[UPDATE] The move also got the thumbs-up from industry. CSL Behring UK general manager Edward Owens said the plasma protein leader is delighted to see the publication of the Strategy, noting that "we regularly hear of patients who have waited years and even decades for an accurate diagnosis of their condition".
However, he added that CSL "has concerns over how robustly this can be delivered given the current financial climate and changes within the NHS. We will eagerly await the detailed implementation plans being crafted by each of the four countries".
Mr Owens concluded by saying that CSL "looks forward to continuing our close relationship with the NHS and patient associations to assist with the implementation of this strategy".