Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what assessment he has made of the potential merits of introducing newborn screening for spinal muscular atrophy on the priorities of the UK Rare Disease Framework.

The Rare Diseases Framework is a high-level document containing overarching priorities and underpinning themes for rare disease policy up to 2025. The Framework is not focused on specific diseases but aims to improve the lives of all people living with rare conditions. As such, no assessment has been made.

In June 2023, the UK National Screening Committee (UK NSC) recommended that a modelling study be carried out alongside an in-service evaluation of spinal muscular atrophy (SMA) screening in the National Health Service in the United Kingdom. This important work will give the UK NSC the evidence it needs to assess how newborn screening for SMA might work safely in the UK.