England's action plan aims to improve rare diseases care

England's 2023 Rare Diseases Action Plan has been published, with aims to support and improve the care of rare diseases.

The new action plan for 2023 builds upon current progress with 13 specific, measurable actions to help the rare diseases community. This includes increasing data sharing between NHS England, the National Congenital Anomaly and Rare Disease Registration Service and Genomics England to improve interpretations of genomic test results for patients. Another goal includes furthering the Be Part of Research platform, which encourages people with rare diseases to participate in research.

Helen Whately, Minister of State in the Department for Health and Social Care, explained: 'we've made huge progress in the past year, making 1000 new complex 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.'

In the UK, there are approximately three and a half million people living with a rare disease. This includes conditions such as spinal muscular atrophy, haemophilia A or Huntington's disease. Although individually, each disease is rare, together, one in 17 people are affected by a rare disease.

In 2021, a framework was published to ensure a focus on faster diagnosis, improved support from healthcare professionals and better levels of care for rare diseases. The new action plan begins by outlining progress made in supporting those with rare diseases through this framework in 2022. This includes initiatives such as the design of a public, NHS-based whole genome sequencing research study to screen newborns for rare genetic conditions (see BioNews 1172).

The government is also planning to fund £12 million to the MRC-NIHR UK Rare Disease Research Platform and £790 million to NIHR biomedical research centres, aiming to improve our understanding of the diagnosis and treatments for rare diseases.

Paul Catchpole, director of value and access policy at the Association of the British Pharmaceutical Industry, responded to this action plan, stating it 'demonstrates good progress in supporting patients with rare diseases particularly investment in Biomedical Research Centres, support for NHS research data infrastructure, and the use of genomics for diagnosis.'

Under the 2023 action plan, the goal is for the millions of people living with rare diseases in England to have access to better diagnosis and treatment plans. The overarching goal is to create long-lasting, positive changes for the community living with rare diseases. The progress of this action plan will be reported and reflected upon in 2024.