The in-service evaluation (ISE) of newborn screening for spinal muscular atrophy (SMA) in NHS services in England is set to start from October 2026, the latest SMA ISE Partnership Board meeting was told.
The ISE will evaluate the feasibility, acceptability, effectiveness, and cost-effectiveness of adding SMA to the newborn blood spot (NBS) screening programme in real-world NHS services. The findings will help inform a definitive UK NSC recommendation on whether and how to continue SMA screening.
Background
Spinal muscular atrophy (SMA) is a serious rare inherited condition that affects nerves in the spinal cord. It can affect a person’s ability to move, speak, swallow and breathe.
When SMA is detected early, babies can be referred promptly for clinical assessment and treatment, which can significantly improve outcomes.
The UK National Screening Committee (UK NSC) recommended an ISE to help answer important evidence gaps and demonstrate how a population-wide newborn programme for SMA would work in practice.
ISEs are used to test a change in screening policy if evidence gaps can only reasonably be filled by data collection and evaluation in a live NHS setting.
The partnership board overseeing the SMA ISE planning includes screening experts from the 4 UK governments and NHS, organisations with a shared interest in newborn screening for SMA, clinicians, academics, genomic experts and patient and public voice members.
How the ISE will work
The evaluation will begin in the 7 newborn screening laboratories in England that already have the equipment needed to start screening for SMA.
NHS England is working with stakeholders to explore how the ISE could then be extended across the rest of the country.
This approach will allow data to be gathered while SMA screening runs alongside the existing NBS programme in real NHS settings.
The evaluation will be delivered within established NIHR and NHS research governance frameworks. The UK NSC will remain responsible for making a national screening recommendation based on the evidence generated.
Updates on workstreams
NHS England is working closely with screening laboratories, clinicians, researchers, and patient organisations to prepare for the October 2026 start. Its work with the researchers will ensure:
- the evaluation is conducted independently
- evidence is collected consistently
- future screening decisions are based on robust, high-quality data
The board’s Scotland representative was pleased to inform members that Scotland is evaluating screening for SMA in its single national newborn screening laboratory and will contribute its data to the NIHR evaluation.
The chair of the board’s clinical pathway sub-group reported that work is under way to make sure clinical pathways for diagnosis, referral, and treatment are clear, consistent, and well understood throughout the evaluation period. National clinical bodies will continue to be engaged as evidence from the evaluation emerges.
The board also reaffirmed that providing clear, accessible information for parents and families remains a priority, both before and during screening.
The membership and remit of the partnership board are now being reviewed to include the research team and other significant partners.
Further updates will be shared via the blog as the evaluation progresses.
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