Scotland is set to become the first country in the UK to introduce national screening for Spinal Muscular Atrophy (SMA).
SMA is a rare genetic condition which causes progressive muscle weakness and affects movement, breathing and swallowing.
The new programme, beginning in early 2026, will see all newborns in Scotland offered SMA screening as part of the routine blood spot test carried out five days after birth. The initiative is part of a two-year pilot funded by the Scottish government and pharmaceutical company Novartis.
Health Secretary Neil Gray hailed the programme as a ‘vital step forward’ in improving early diagnosis and treatment.
Gray said: ‘This condition can have devastating impacts for babies and their families. By detecting SMA before symptoms develop, screening could allow earlier treatment which could lead to much better life outcomes.’
On average, three to four babies are born with SMA in Scotland each year. Early intervention is crucial, with disease-modifying treatments offering significantly better outcomes when administered before symptoms appear.
Giles Lomax, CEO of the charity SMA UK, said the decision is a ‘hugely positive step forward,’ highlighting that early detection could allow affected children to follow near-normal developmental pathways.
Samples will be analysed at the Scottish Newborn Screening Laboratory, based at the Queen Elizabeth University Hospital in Glasgow. Dr Sarah Smith, director of the lab, said the pilot would help ‘gather vital evidence’ to assess the test’s long-term viability.
The government is contributing £95,000 to the pilot, with Novartis providing £435,400. It is hoped the data generated will support a UK-wide rollout in future.
Rob Hastings, chief medical officer at Novartis UK and Ireland, called the decision a ‘landmark’ moment, offering ‘hope and opportunity’ to families across Scotland.
Photo by Kelly Sikkema via UnSplash
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