England Rare Diseases Action Plan 2024

Andrew Stephenson Excerpts

Thursday 29th February 2024 Written Statements

[The Minister for Health and Secondary Care (Andrew Stephenson)]

The Government have published England’s third rare diseases action plan on www.gov.uk today, on international Rare Disease Day.

Rare diseases are those affecting less than 1 in 2,000 in the population. Although rare diseases are individually rare, they are collectively common with one in 17 people being affected by a rare disease at some point in their lifetime. Approximately 3.5 million people in the UK are living with one of over 7,000 rare diseases, such as muscular dystrophies or Huntington’s disease. People living with rare diseases often face challenges with the health and care system. The National Conversation on Rare Diseases received nearly 6,300 responses and helped us to identify the four priorities of the 2021 UK rare diseases framework: faster diagnosis; increased awareness of rare diseases among healthcare professionals; better quality of care; and improved access to specialist care, treatment and drugs.

This 2024 England rare diseases action plan is part of the Government’s continued commitment to improve the lives of those living with rare conditions. This year’s action plan provides an update of the progress made against actions outlined in the 2023 and 2022 action plans, and sets out seven new actions to continue to address the priorities highlighted in the UK rare diseases framework.

The Government have shown strong leadership in addressing the concerns faced by the rare diseases community over the past year. Key achievements include:

Designing and securing funding for a pilot of two syndromes without a name clinics in England to deliver care and diagnosis for people with rare undiagnosed conditions.

Updating the National Institute for Health and Care Excellence quality standard on transition from children to adults’ services to ensure that it is relevant to the rare diseases community.

Publishing the UK rare diseases research landscape report, illustrating the strengths of UK research, with over £1.1 billion of rare disease research funded by the Government and charities, and over 250 research projects supported by industry over a five-year period.

A £14 million investment to fund the UK rare disease research platform, which is made up of 11 UK-wide research nodes and a co-ordinating hub facilitating greater collaboration between academic, clinical and industry research, and people living with rare diseases, research charities and other stakeholders, to accelerate the understanding, diagnosis and therapy of rare diseases.

Announcement of over 200 rare genetic conditions that will be screened in the Generation Study. This is the biggest study of its kind in the world, screening over 100,000 newborns with the aim to understand whether sequencing babies’ genomes can help to discover rare genetic conditions earlier.

The 2024 action plan also includes significant new commitments against the framework priorities, developed collaboratively with our delivery partners across the health landscape, and in close consultation with members of the rare disease community. These include:

Developing a genomics communication skills resource to ensure healthcare providers are equipped to have sensitive conversations relating to the gathering of genomic information, consent for diagnostic genomic testing and feedback of results.

Developing the specialist genomics workforce through the Genomics Training Academy.

Developing networked models of care for rare diseases, ensuring that specialist expertise is always available while allowing patients to be treated and cared for as close to home as possible, starting with networked models for inherited metabolic disorders and amyloidosis.

Improving access to whole body scans to increase survival rates and outcomes for people who have rare conditions that result in an inherited predisposition to cancer.

Addressing health inequalities for people with rare conditions through publishing a toolkit for highly specialised services and by mapping and measuring the geographic spread of patients accessing these services.

Under the action plan, the millions of people with rare diseases in England will see more efficient and equitable access to care and new treatments introduced. Over the coming year, we will closely monitor the progress of these actions, seeking input from those living with rare diseases to ensure we are measuring the outcomes that matter most. Progress will be reported in 2025, as part of England’s commitments to report annually over the five-year lifetime of the UK rare diseases framework.

Through this third action plan, we will continue to take steps towards achieving our overarching vision—delivering improvements in diagnosis, awareness, treatment and care, and creating lasting positive change for those living with rare diseases.

[HCWS298]