Newborn Screening Program Adds Spinal Muscular Atrophy Testing Across England

Spinal muscular atrophy is a rare but serious genetic condition that can rapidly impair motor function in infants and, in severe cases, compromise breathing and swallowing. Detecting the disorder before symptoms emerge is critical because early treatment can markedly improve outcomes. Screening at birth offers an opportunity to identify affected babies when therapeutic intervention can have the greatest impact. Officials now announce an England-wide evaluation that will add spinal muscular atrophy to the standard heel‑prick newborn test.

The Department of Health and Social Care (DHSC), working with National Health Service (NHS) England and the National Institute for Health and Care Excellence (NICE), will expand newborn screening for spinal muscular atrophy (SMA) across England as part of a national evaluation program. The initiative will begin across England in the autumn, with laboratories set to start testing babies from October 2026, three months ahead of schedule. The rollout is expected to screen hundreds of thousands of babies as the program expands.

Testing will use the existing newborn heel‑prick procedure to collect a small blood sample shortly after birth. By integrating SMA into this workflow, clinicians are intended to have a better chance of identifying the condition before symptoms appear. Early diagnosis is highlighted as a pathway to improved outcomes, including the potential for babies to live full and healthy lives when treatment is initiated promptly.

Through the National Institute for Health and Care Research (NIHR), the government has announced £4.1 million to evaluate the feasibility and effectiveness of adding SMA to the standard heel‑prick blood test. Led by scientists at the University of Oxford, the study will run in routine National Health Service settings and is designed to generate evidence to inform future UK National Screening Committee (UK NSC) recommendations on newborn screening for SMA. Findings from the evaluation will guide decisions on sustained implementation.

DHSC will seek investment to fund the broader rollout. A similar program has already been established in Scotland with support from the private sector, and DHSC plans to explore a comparable approach in England by working collaboratively with partners to accelerate delivery.

“Spinal muscular atrophy is a devastating condition, and we know how deeply families have wished for a way to detect it before its cruel symptoms begin. The NIHR is proud to fund this £4.1 million evaluation study. By testing this screening in a real-world NHS setting, our researchers will gather the vital evidence needed to translate early detection into rapid, life-saving action - offering babies the very best start in life,” said Professor Lucy Chappell, NIHR CEO and DHSC Chief Scientific Adviser.

“This is a major step forward for babies and families as spinal muscular atrophy can progress quickly, and identifying it before symptoms appear means babies can get specialist treatment when it can make the biggest difference. Expanding the evaluation across England means all babies will now have access to this life-changing test and help build the evidence independent experts need to make a recommendation. The courage Jesy Nelson has shown in sharing her family’s experience and campaigning for other families is truly remarkable,” said Michelle Kane, Director of Screening and Vaccination at NHS England.

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