The 2023 England Rare Diseases Action Plan, published by the Department of Health and Social Care (DHSC) on Rare Disease Day - 28 February, aims to make sure people receive faster diagnosis and specialist care for rare diseases.
A new Rare Diseases Action Plan for England has been published today that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.
This builds on the first ever Rare Diseases Action Plan for England published in 2022, which has developed digital tools to put information on rare diseases at the fingertips of healthcare staff. It has also helped 1,000 new complex diagnoses for people with rare diseases to be made thanks to advances in genomic research, helping to inform appropriate clinical care for patients.
The new plan lists 13 actions that have been developed with the rare diseases community focussing on faster diagnosis, increased awareness of rare diseases among healthcare staff, better coordination of care and improved access to specialist care, treatments and drugs.
Although rare diseases are individually rare, they are collectively common, with 1 in 17 people affected by a rare disease at some point in their lives, such as spinal muscular atrophy, haemophilia A, epidermolysis bullosa or Huntington’s disease. This new plan will increase data sharing to provide a full picture of how people are tested for genetic diseases across England and help get patients a diagnosis faster.
With more than 7,000 rare diseases affecting an estimated 3.5 million people in the UK it is vital that healthcare professionals have the right training to care appropriately for their needs. The new plan will collect evidence on health inequalities faced by people living with rare diseases so they can be addressed by health services, for instance for people not living in areas where specialist centres exist.
Chief Scientific Adviser, Professor Lucy Chappell, said: “The impacts of rare diseases on individuals and their families are wide-ranging. Our research plays an important underpinning role in furthering the understanding, diagnosis, treatment and care for people living with rare diseases.
“The action plan highlights significant advances in rare disease research supported through our funding. There is always more to do, and our commitments will be supported by the recently announced funding for ground-breaking research into the NIHR Biomedical Research Centres and the Medical Research Council (MRC)-NIHR UK Rare Disease Research Platform. This research will continue to drive progress and foster collaboration to translate scientific breakthroughs into clinical advances.”
Looking to the future, the government is funding research and fostering collaborations to accelerate the understanding, diagnosis and therapy of rare diseases. These include the ground-breaking £12 million MRC-NIHR UK Rare Disease Research Platform and £790 million NIHR biomedical research centres, many of which include a focus on rare disease research.
Read the full document at - https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2023
