England expands newborn screening to detect SMA before symptoms appear
England is rolling out newborn screening for spinal muscular atrophy (SMA), which will allow all babies born in the country to be tested for the rare genetic disease shortly after birth.
According to a government press release, the program is already ahead of schedule, and some labs will start testing this October — three months earlier than originally planned. The rollout will continue throughout 2027, and all newborn screening laboratories in England are expected to offer SMA testing by October 2027. Results from the evaluation program will inform future recommendations on SMA screening for newborns.
Earlier screening aims to speed diagnosis and treatment
“After years of campaigning by the SMA Community and our partner organisations, this is a hugely important step forward. When newborn screening for SMA begins later this year in October, thousands of babies will benefit from earlier diagnosis and access to life-changing treatment,” said Giles Lomax, CEO of the advocacy group SMA UK.
Andy Fletcher, CEO of Muscular Dystrophy UK, said this milestone “is a huge achievement for our community and everyone who has come together to campaign.”
“We know that with a condition like SMA, time is everything, and this development will be life-changing for future generations of children born with the condition,” Fletcher said.
SMA is a genetic disorder that causes motor neurons, the nerve cells that control movement, to degenerate and die. This leads to progressive muscle weakness that limits movement and can cause life-threatening complications, including breathing difficulties. Symptoms of the most common form, SMA type 1, appear at birth or during the first six months of life. Without treatment, most children with SMA type 1 do not survive beyond age 2.
SMA has historically been a leading genetic cause of death among infants and toddlers. But within the last decade, multiple disease-modifying treatments have been approved. These therapies can slow SMA progression, but their ability to reverse damage that has already occurred is limited. As a result, treatment is generally most effective when started as early as possible. Studies suggest that when treatment begins before symptoms develop, some children, including those with severe forms of SMA, may achieve motor milestones within typical developmental windows.
Heel-prick test can identify SMA before symptoms appear
Newborn screening involves systematically testing all babies for SMA soon after birth. This can allow babies who have SMA to be diagnosed before symptoms develop, helping them begin treatment earlier. Screening is performed using a small blood sample collected through a heel prick, as with newborn screening for other conditions. A similar SMA screening program has already been established in Scotland, but screening is not yet available throughout the rest of the U.K. England’s new evaluation program is a key step toward expanding access.
“No family should face a postcode lottery when it comes to a condition where every day without treatment can lead to irreversible loss of motor neurons. We are incredibly grateful to the families, clinicians, researchers, supporters and campaigners who have helped us reach this point, and we look forward to the day when every newborn across the whole of the UK is offered this simple, life-changing test,” Lomax said.
The U.K. government has committed £4.1 million (about $5.2 million) to an evaluation study assessing the feasibility and effectiveness of adding SMA to routine newborn screening. The government will seek separate investment to fund the wider rollout.
“This expansion means babies across England will be tested from birth, giving them the best possible chance of a full and healthy life, and another step in the right direction as we do all we can to reduce health inequalities,” said James Murray, secretary of state for health and social care.
Jesy Nelson, who advocated for the screening expansion, said: “Today is a day of hope. Knowing that future families will have access to early diagnosis and the opportunity for the best possible outcomes is something I’m incredibly proud to have supported. This is a victory for every family affected by SMA. Whilst it can’t change the future of our children, I know it marks the beginning of a brighter future for future SMA families.”
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