Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, pursuant to the Answer of 2 December 2025 to Question 93696, what recent steps he has taken to implement the UK Rare Diseases Framework commitment to faster diagnosis; and how this is reflected in changes to the newborn screening programme.

The Government is committed to improving the lives of those living with rare diseases. Helping patients get a final diagnosis faster is one of the four priorities of the UK Rare Diseases Framework. We published the annual England action plan in February 2025, where we report on the steps we have taken to advance this priority. This year's plan updated on research we have commissioned to better understand what causes delays in diagnosis; the Generation Study to pilot whole genome sequencing of newborns in the National Health Service; and the work of the NHS Genomic Medicine Service.

The current NHS Newborn Blood Spot Screening Programme enables early identification, referral and treatment of babies with 10 rare but serious conditions. In the United Kingdom, new screening programmes and modifications to existing screening programmes are recommended by the UK National Screening Committee (UK NSC). The UK NSC recommended newborn screening for hereditary tyrosinaemia type 1 in June 2022. The NHS began to offer it routinely in October 2025. An in-service evaluation (ISE) of screening for Severe Combined Immunodeficiency was launched in 2021 and closed on 27 October 2025. At the June 2023 UK NSC meeting, the Committee supported the need for a new independent model for spinal muscular atrophy (SMA) and agreed to plan for the SMA ISE. Evidence was published in August 2025, and is available at the following link:

https://nationalscreening.blog.gov.uk/2025/08/07/uk-nsc-publishes-sma-screening-evidence-documents/

Planning and development work to shape the ISE of newborn screening for SMA is ongoing.