England will screen 750,000 newborns for spinal muscular atrophy as part of a landmark study to determine whether the genetic condition should be added to the routine heel-prick blood test given to every baby.
Study to screen up to 755,000 newborns
The research, led by Professor Laurent Servais in the Department of Paediatrics at the University of Oxford, is funded by the National Institute for Health and Care Research (NIHR) and is expected to begin in August. It will screen up to 755,000 infants across seven NHS newborn screening laboratories, covering roughly two-thirds of all births in England.
The project will be introduced in phases, allowing researchers to compare outcomes between screened and unscreened babies. Final results are not expected until 2031. Currently, screening for spinal muscular atrophy (SMA) is not available in England. The new study aims to assess the feasibility, acceptability, effectiveness and cost-effectiveness of adding SMA to the existing newborn blood spot test — the heel-prick test offered to babies around five days old, which currently screens for ten rare but serious conditions.
Adding SMA to that test is estimated to cost approximately £4 to £5 per baby. Modelling studies, including work by the Sheffield Centre for Health and Related Research (SCHARR), suggest that implementing newborn screening could lead to better outcomes and potentially lower overall healthcare costs compared with the current approach.
Evidence gathered by the study will help inform decisions by the UK National Screening Committee. An in-service evaluation for SMA newborn screening within NHS services in England is also scheduled to begin in October 2026. Scotland is already moving ahead: it will launch its own two-year in-service evaluation on March 23, 2026, becoming the first UK nation to offer SMA screening to newborns.
Jesy Nelson’s personal campaign
The push for screening has been given a high-profile boost by pop star Jesy Nelson, whose twins, Ocean Jade and Story Monroe Nelson, were diagnosed with the condition. She revealed in January that her daughters are unlikely to be able to walk or regain their neck strength. The genetic disorder causes progressive muscle wastage, movement problems, issues with breathing and swallowing, muscle tremors, as well as bone and joint problems.
Nelson has since dedicated herself to raising awareness and has urged the Government to add SMA to the newborn blood spot screening test, arguing that early treatment can help avoid some of its most devastating effects. She launched a petition that has amassed more than 100,000 signatures, met Health Secretary Wes Streeting, and visited 10 Downing Street as part of her campaign.
Families affected by SMA have noted that Nelson’s campaign brought national attention to the issue, with some feeling their own long-standing advocacy had been overlooked. Portia Thorman of the charity SMA UK pointed out that Wes Streeting had previously declined an invitation to visit a pilot SMA screening study at the University of Oxford.
Giles Lomax, chief executive of SMA UK, said: “For families affected by SMA, time is everything. A diagnosis through newborn screening can mean the difference between a life limited by severe disability and one with far greater independence and opportunity. This study brings us closer to a future where no child misses that critical window for treatment, and where screening is available to every newborn across the UK.”
Understanding spinal muscular atrophy
Spinal muscular atrophy is a rare, inherited neuromuscular disorder that causes progressive muscle wasting and weakness. It affects the motor neurons in the spinal cord, which control movement, speech, swallowing and breathing.
There are five types of SMA, ranging from the most severe (Type 0) to milder forms (Type 4). Type 1 is the most common and severe form, often proving fatal before the age of six months if left untreated. The condition is caused by a genetic mutation that leads to a deficiency of the survival motor neuron (SMN) protein. Treatment decisions after a newborn screening diagnosis are guided by SMN2 copy numbers — a higher number generally indicates reduced disease severity.
Significant treatment advances have been made in recent years. Three therapies are now available on the NHS: nusinersen (Spinraza), Zolgensma (gene therapy), and risdiplam (Evrysdi). These have dramatically improved survival rates and quality of life. Nearly three-quarters of babies born with SMA Type 1 in the UK now survive past two years of age, a major improvement on historical outcomes.
Early diagnosis and treatment are critical. With timely intervention, the condition can be largely prevented, and many children can develop with minimal or no symptoms. Professor Servais, who also led the newborn screening programme for SMA in southern Belgium, said: “This study represents a decisive step towards ensuring that every child born with SMA in the UK has the opportunity to be diagnosed and treated before irreversible damage occurs. We now have therapies that can fundamentally change the trajectory of this disease if we can identify affected infants early. Our goal is to provide the evidence needed to support the introduction of SMA into routine newborn screening nationwide, ensuring equitable access for all families.”
The UK National Screening Committee had previously recommended against a national screening programme in 2018, citing a lack of evidence on screening effectiveness, uncertainty about how to support individuals with positive results, the absence of effective treatments for asymptomatic individuals at that time, and unknown long-term effects of new treatments such as nusinersen. The dramatic improvements in treatment options since then have prompted a reassessment.
Expected outcomes and controversy
The evidence from this study and the planned in-service evaluations in England and Scotland will be crucial for the UK Screening Committee’s updated recommendation. Health Secretary Wes Streeting has publicly supported the call for improved screening and has indicated a broader commitment to advancing genomic medicine within the NHS, with SMA screening as a focal point.
However, the study has not been without criticism. SMA UK has described plans for a pilot that does not screen all babies as “unethical”, arguing that a control group is unnecessary given existing international evidence. The charity noted that many other countries already screen for SMA at birth, and that the UK is lagging behind.