UK government has launched a publication of a brand-new Rare Diseases Action Plan for England, which will guarantee that people with these conditions will continue to receive support, equitable access to testing, and improved care and treatment.
This builds on the first Rare Diseases Action Plan for England, which was released in 2022 and developed digital tools to make information about rare diseases accessible to healthcare professionals. Advances in genomic research have also made it possible to make 1,000 new complex diagnoses for people with rare diseases, assisting in the development of appropriate clinical care for patients.
The new plan includes 13 actions that were developed with the community of people with rare diseases. Among the goals are faster diagnosis, increased awareness of rare diseases among healthcare workers, improved care coordination, and increased access to drugs, treatments, and specialist care.
One in 17 people will experience a rare disease at some point in their lives, such as Huntington’s disease, haemophilia A, epidermolysis bullosa, or spinal muscular atrophy, despite the fact that each of these conditions is uncommon on its own. We will be able to get a complete picture of how people in England are tested for genetic diseases for the first time thanks to this new plan, which will increase data sharing to speed up diagnosis for patients.
With over 7,000 rare diseases affecting an estimated 3.5 million people in the UK, it is essential for healthcare providers to have the appropriate training to meet their patients’ needs. In order to address health inequalities faced by individuals with rare diseases, such as those who do not reside in areas with specialist centers, the new plan will gather evidence.
According to Health Minister Helen Whately, 3.5 million people in the UK are affected by rare diseases, which are individually rare but collectively common. Due to the advancements in genomic research, they have made significant progress over the past year, making 1,000 complex new diagnoses.
Professor Lucy Chappell, Chief Scientific Adviser, said that rare diseases have a wide range of effects on individuals and their families. Understanding, diagnosis, treatment, and care for people with rare diseases are all made easier thanks to their research.