Rare Diseases Action Plan launched to tackle health inequalities

A new Rare Diseases Action Plan for England has been launched to provide better care and treatment, fairer access to testing and continued support for those living with rare diseases.

The first Rare Diseases Action Plan for England was published in 2022 and developed digital tools to make information on rare diseases more available for health care staff. It also used advances in genomic research to help provide 1,000 new complex diagnoses for people with rare diseases.

The new plan includes 13 actions that have been developed in partnership with the rare diseases community, with a focus 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 individually rare, 1 in 17 people will be affected by a rare disease at some point in their life - more that 7,000 rare diseases are currently affecting an estimated 3.5 million people in the UK.

Health Minister Helen Whately said: "Rare diseases are individually rare but collectively common, affecting 3.5 million people in the UK.

"We’ve made huge progress in the last year, making 1,000 complex new diagnoses thanks to advances in genomic research.

"But there is still more to do. Our Rare Diseases Action Plan will reduce health inequalities, help people participate in research and join up specialist services better for patients.

Professor Sir Stephen Powis, NHS England medical director, said: "We’ve made great progress in securing new medicines for people with a range of rare conditions, including life-saving gene therapy, advancements in genomic testing and sequencing, made possible through the NHS Genomic Medicine Service, where we are a truly world-leading health system.

"As well as being an adopter of innovation today, the NHS is developing a strategic approach to prepare for the breakthroughs of tomorrow and enable rapid patient access to future tests and treatments for rare conditions."

Image by fernando zhiminaicela from Pixabay