England Releases 2023 Rare Diseases Action Plan

Rare Daily Staff

The Department of Health and Social Care and NHS England published England Rare Diseases Action Plan 2023 with the promise of ensuring access specialized care, treatment, holistic support across services, and the opportunity to participate in research should they want to do so.

The new plan, developed in collaboration with the rare disease community and healthcare system, builds on the 2022 action play, which it credits with the development of digital tools to put information on rare diseases at the fingertips of healthcare staff. It also said it helped make 1,000 new complex diagnoses for people with rare diseases thanks to advances in genomic research.

The new plan seeks increased data-sharing to create a full picture of how people are tested for genetic diseases across England and to help get patients a diagnosis faster.

It also will collect evidence on the estimated 3.5 million people in the United Kingdom who suffer from a rare disease to explore health inequalities faced by people living with rare diseases so they can be addressed by health services.

The plan lists a total of 13 actions that have been developed with the rare diseases community focusing on faster diagnosis, increased awareness of rare diseases among healthcare staff, better coordination of care, and improved access to specialist care, treatments, and drugs.

These commitments are supported by funding for ground-breaking research, including investments of nearly $955.5 million (£790 million) into Biomedical Research Centers, and a $14.5 million (£12 million) UK Rare Disease Research Platform. The plan calls the research “essential” in furthering the understanding, diagnosis, and treatment of rare diseases, consolidating the UK’s position as a science superpower and innovation nation.

“The UK Rare Disease Framework set out a great set of aspirations to improve the lives of people living with rare conditions, and we welcome this second annual action plan setting out the practical steps that will be delivered this year,” said Louise Fish, Chief Executive of Genetic Alliance UK. “We are particularly pleased that National Institute for Health and Care Research funding will be awarded in autumn 2023 to develop the evidence base needed to operationalize better coordination of care in the NHS. Many rare conditions are life-long and complex, and we know from listening to people living with rare conditions and their families that well-coordinated care makes a real difference to their quality of life.”