From October 2027, a major milestone in newborn health care will be reached as all babies born in England are set to undergo screening for Spinal Muscular Atrophy (SMA), a severe genetic condition that affects approximately one in 10,000 babies. This comprehensive rollout aims to ensure early diagnosis and access to life-changing treatments for SMA, which can significantly impact a child's quality of life if left undiagnosed.
SMA is a rare muscle-wasting disease that can lead to significant developmental delays, including difficulties with sitting, crawling, walking, breathing, and swallowing. If left undiagnosed, it can be fatal within the first two years of life. However, early detection at birth allows for the administration of gene-therapy treatments that can significantly improve outcomes, enabling affected children to live a more normal life.
The decision to implement universal screening follows a pilot programme announced in April, which was due to test nearly three-quarters (72%) of newborns in England from October this year. However, critics had raised concerns about the potential for a 'postcode lottery', where some cases might go undetected depending on geographical location.
The expansion to universal coverage will be facilitated by utilising all 13 laboratories capable of testing for SMA, an increase from the seven currently involved. Giles Lomax, Chief Executive of Spinal Muscular Atrophy UK, described the development as a "hugely important step forward," emphasising the benefits of earlier diagnosis and access to transformative treatments.
The screening for SMA will be incorporated into the existing heel-prick test, a routine blood test performed on newborns when they are five days old. This test already screens for 10 other serious conditions, including cystic fibrosis, sickle cell disease, and chronic hypothyroidism. The campaign for universal screening has received significant public attention, with notable advocates including former Little Mix singer Jesy Nelson, whose twin daughters were diagnosed with SMA.
Nelson had previously expressed her concerns about the limited nature of the initial rollout, calling it "outrageous", but welcomed the government's announcement as a "landmark moment for the SMA community". The expansion to universal screening will ensure that all 560,000 to 570,000 babies born in England each year receive timely diagnosis and treatment, providing them with the best possible chance of living a full and active life.