Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what assessment his Department has made of the potential impact of the UK Rare Diseases Framework, published on 9 January 2021, on reducing the time it takes to diagnose rare diseases.

The Government is committed to improving the lives of those living with rare diseases. The UK Rare Diseases Framework sets out four priorities collaboratively developed with the rare disease community, including helping patients get a final diagnosis faster. We remain committed to delivering under the framework and will publish an England action plan in 2025.

People living with rare diseases often face long diagnostic odysseys, the time between symptoms first presenting and people receiving a definitive diagnosis. This can seriously affect patients’ mental and physical health, and has significant cost implications for the National Health Service. Under action 17, in 2023 we worked with National Institute for Health and Care Research to commission research to measure the diagnostic odyssey. The research project is expected run for two years, concluding in 2026. This research is a crucial step in establishing a baseline time to diagnosis. This baseline will enable us to better understand the impact of interventions designed to help patients get a final diagnosis faster.

Additionally, Genomics England has been allocated Department funding to explore the feasibility of using whole genome sequencing to screen for a defined set of genetic conditions in newborns, through an ethically approved research study. The Generation Study is evaluating the feasibility of using whole genome sequencing to screen up to 100,000 babies for over 200 rare conditions. The Generation Study will explore whether whole genome sequencing can diagnose rare diseases earlier and improve outcomes for newborn babies.