Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what assessment has been made of the potential merits to introduce universal newborn screening for the condition Progressive Spinal Muscle Atrophy.

The Government recognises the challenges faced by those living with rare diseases, as well as their families, and is committed to improving outcomes. We are guided in screening matters by the independent UK National Screening Committee (UK NSC). The UK NSC reviewed the evidence for screening for spinal muscular atrophy (SMA) in 2023 and concluded that there were gaps in the evidence. It was of the view that these evidence gaps are best filled at large scale in live services, so the committee recommended an in-service evaluation (ISE).

For very rare conditions, it is difficult to generate robust evidence to demonstrate the effectiveness of screening, because so few babies are affected.

The ISE was originally due to start in January 2027, but earlier this year the Government committed to bringing this forward to October 2026. The evidence from this ISE will inform a recommendation on whether to extend the National Health Service newborn blood spot screening programme and include routine screening for SMA.