Every baby born in England will be screened for a rare muscle-wasting disease, starting next year, the Department of Health and Social Care announced on Thursday.
Campaigners said the “landmark moment” should lead to babies who were found to have spinal muscular atrophy (SMA) being treated early and thus growing up without any of its debilitating symptoms.
SMA leaves babies with floppy arms and legs, unable to sit up, crawl or walk, and prone to problems breathing and swallowing. If it goes undiagnosed, it can kill those who have the condition within two years.
It affects about one in 10,000 babies; usually, about 48 a year in the UK. Those detected at birth can be given an effective gene-therapy treatment.
Almost three-quarters (72%) of newborns in England are already due to be tested for the condition from October under a pilot programme announced in April.
However, that prompted criticism that a less-than-universal testing regime would result in a “postcode lottery” of some cases going undetected.
Ministers have responded to those concerns by announcing that all babies born in England – between about 560,000 and 570,000 a year – will be screened from October 2027. Universal coverage will be achieved by using all 13 laboratories that can test for it, up from the current seven.
“This is a hugely important step forward,” said Giles Lomax, the chief executive of Spinal Muscular Atrophy UK. “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.”
From October, blood tests taken from newborns when they are five days old, through the heel-prick test, will be screened for SMA as well as the 10 conditions – including cystic fibrosis, sickle cell disease and chronic hypothyroidism – they are already used to detect.
Andy Fletcher, the chief executive of Muscular Dystrophy UK, said: “The decision to introduce newborn screening for SMA across England is a landmark moment for the SMA community and the many partners who have spent years working to make it a reality.”
SMA has gained a higher profile politically and in the media as a result of the former Little Mix singer Jesy Nelson campaigning for universal screening. Her twin daughters, Ocean Jade and Story Monroe Nelson, were diagnosed with it. In June she criticised the limited nature of the rollout from October as “outrageous”.
“After years of campaigning, it means so much to see the heel-prick test for SMA begin rolling out from October, with implementation continuing throughout 2027 until every newborn screening laboratory across the UK is offering the test,” Nelson said.
“Today is a day of hope. This is a victory for every family affected by SMA. While it can’t change the future of our children, I know it marks the beginning of a brighter future for future SMA families.”
