06 March 2023

The government has published an action plan that aims to provide better care and treatment for individuals in England with rare diseases.

The Rare Diseases Action Plan for England, by the Department of Health and Social Care and NHS England, builds on the first plan that was published last year, which has developed digital tools to enable healthcare professionals to access information more easily. It also helped 1,000 new complex diagnoses for people with rare diseases to be made.

The updated plan lists 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.

There are more than 7,000 ‘rare’ diseases affecting an estimated 3.5 million people in the UK. 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.”

Dr Ellen Thomas, deputy chief medical officer at Genomics England, added: “A decade on from the launch of the ground-breaking 100,000 Genomes Project, it’s vital that we continue to harness the potential of genomics to deliver benefits in diagnosis, treatment and care for those living with rare conditions. Connecting research and clinical care and doing both at national scale is crucial to this and a great strength of the approach we are taking as a country.

“In 2022, thanks to this link and work carried out in the National Genomic Research Library, we returned over 1,000 new, complex diagnoses for people with rare conditions to the NHS to help inform the most appropriate clinical care.

“We must continue to build on this progress, working alongside national delivery partners across the health system and in close consultation with the rare disease community, to deliver on our shared vision to improve the lives of people living with rare conditions across the UK.”

It will also assess the effectiveness of the UK Rare Diseases Framework and England’s rare diseases action plan.

Since the publication of the Rare Diseases Action Plan last year, several changes have been made, including: improvements to new born screening for rare diseases; the launch of the Innovative Medicines Fund (IMF) by NHS England and the National Institute for Health and Care Excellence (NICE), to fast-track the most promising, cutting-edge medicines to NHS patients; and the MELODY COVID-19 study, which allowed people to participate from their own home and informed targeted treatment policies.

The government is also funding research and fostering collaborations to accelerate the understanding, diagnosis, and therapy of rare diseases. These include the £12 million MRC-NIHR UK Rare Disease Research Platform and £790 million NIHR biomedical research centres.

Louise Fish, chief executive of Genetic Alliance UK, said: “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.

“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 operationalise 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.”

Source: Department of Health and Social Care


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