England will expand newborn genetic screening for spinal muscular atrophy (SMA), making the test available to all babies through the national heel-prick screening program. The initiative, announced by the Department of Health and Social Care, National Health Service (NHS) England, and the National Institute for Health and Care Excellence, is intended to identify affected infants before symptoms develop, when treatment is most effective.
The nationwide evaluation program is scheduled to begin later this year, with laboratory testing expected to start in October 2026 – three months earlier than originally planned. Hundreds of thousands of newborns are expected to be screened as the program expands across England.
SMA is a rare, inherited disorder that progressively weakens muscles and, in severe cases, affects breathing and swallowing. The new screening test will use blood collected from newborns through a heel-prick test. Early detection can enable treatment before irreversible damage occurs, improving long-term outcomes.
Sukhvinder Nicklen, an expert at genomics firm PacBio, says, "The decision to follow Scotland in screening newborns for SMA is an important step toward NHS ambitions to offer whole-genome sequencing to all newborns within the next decade, moving to a more preventative model of care. Many countries already screen for more conditions than England's heel-prick test – around 25 in Australia, 40 in Italy, and 37 in the US."
For clinical laboratories, the rollout represents a significant expansion of molecular testing within established newborn screening workflows. The accelerated implementation timeline also highlights the need for laboratory readiness and workforce planning.
The program will generate real-world evidence through a £4.1 million evaluation funded by the National Institute for Health and Care Research. Led by researchers at the University of Oxford, the study will assess the feasibility and effectiveness of adding SMA to routine newborn heel-prick blood testing and inform future recommendations from the UK National Screening Committee.
However, Nicklen would like to see genomic testing in England expanding to inform risk-based care. "Genetic testing must also move beyond yes-or-no results. Scotland's SMA program already assesses likely disease severity to help clinicians prioritize and tailor treatment, and that more nuanced approach should extend to other conditions," she says.
Implementation will continue through 2027 until all newborn screening laboratories in England are offering the test, creating a more consistent national approach to genetic screening while expanding the role of diagnostics in preventive pediatric care.
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