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New government action plan for people with rare diseases

The government has published a new action plan for England that aims to help those living with rare diseases receive better care and treatment.

A new action plan for England has been published on Rare Diseases Day that aims to help those living with rare diseases receive better care and treatment, fairer access to testing and have continued support.

Rare diseases are individually rare but collectively common, affecting 3.5 million people in the UK. This new plan will increase data sharing to help get patients a diagnosis faster.

The action plan builds on a version published last year which developed digital tools that helped 1,000 new complex diagnoses for people with rare diseases to be made thanks to advances in genomic research.

The new 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.

It will also 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.

Need to harness the potential of genomics

Dr Ellen Thomas, Deputy Chief Medical Officer at Genomics England, said: “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.”

Improvements from the 2022 Rare Diseases Action Plan include:

  • Improvements to newborn screening for rare diseases, laying the groundwork for families to get a definitive diagnosis as early as possible.
  • 1,000 new complex diagnoses for people with rare diseases have been made thanks to advances in genomic research, helping to inform appropriate clinical care for patients;
  • Creation and rollout of a toolkit for virtual healthcare consultations to help people with complex, multi-system rare diseases access multiple specialists without needing to travel.
  • 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.
  • The pioneering 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 ground-breaking £12 million MRC-NIHR UK Rare Disease Research Platform and £790 million NIHR Biomedical Research Centers, many of which include a focus on rare disease research.

Louise Fish, Chief Executive of Genetic Alliance UK, added: “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 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.”


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