The first action plan setting out how the Department of Health and Social Care and delivery partners will implement the UK Rare Diseases Framework in England has been published.
The action plan, published today, includes 16 commitments to further improve care and has been developed in partnership with NHS England and NHS Improvement, the National Institute for Health and Care Excellence, Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council.
Welcoming the plan, Director of Policy of Genetic Alliance UK, Nick Meade said: “Rare Disease Day is great timing for this step forward. The delivery of this plan despite the challenges of the current environment shows the commitment of the delivery partners to make meaningful progress.
“Our community’s voice has been heard more than ever in the development of this plan. This collaboration has helped us see how well these priorities of diagnosis, awareness, coordination and care can combine to have an impact greater than the sum of their parts. We are excited to move into the implementation phase and to see real improvements for people living with rare conditions.”
Rare Diseases Framework:
The UK government and devolved administrations published the UK Rare Diseases Framework in January 2021, setting out a shared vision for addressing health inequalities and improving the lives of people living with rare diseases across the UK.
The framework outlined four key national priorities:
- helping patients get a final diagnosis faster
- increasing awareness among healthcare professionals
- better co-ordination of care
- improving access to specialist care, treatment and drugs
To turn this vision into action, each of the four UK nations has committed to developing nation-specific action plans detailing how these priorities will be addressed.
Since the Government made the decision to scrap the Rare Disease Strategy Implementation Plan, this is England’s first Rare Diseases Action Plan, which has been developed together with delivery partners across the health system and in close consultation with the rare disease community. It sets out specific, measurable actions for the next year under each of the four priority areas, including the outcomes they aim to achieve.
In a joint foreword to the plan written by Minister for Patient Safety and Primary Care, Maria Caulfield and the Secretary of State Sajid Javid, they say “Despite the immense strain COVID-19 has placed on the health and care system, the actions described in this plan are far-reaching and diverse.
“From piloting new approaches for patients with undiagnosed rare conditions, to monitoring the uptake of drugs for rare diseases to promote equal access throughout the country, determining how best to include rare diseases in health profession education, and improving the way decisions are made on newborn screening for rare diseases.”
With an estimated 3.5 million people in the UK born with a rare disease and affected by more than 7,000 rare diseases the Government has announced that healthy newborn babies will have their whole genomes sequenced in a scheme to screen for genetic disorders.
In a statement, the Health and Care Secretary, Sajid Javid said: “I am committed to levelling up our health system so that everyone regardless of their condition can receive treatment that is tailored to their needs.”
The second England Rare Diseases Action Plan will be published at the start of 2023 and will report on progress against the actions set out here, as well as proposing updated and new actions.
Action plans will be published annually during the lifetime of the UK Rare Diseases Framework.