This article was first published at healthandcare.scot

In a UK-first, Scotland has announced a pilot programme of newborn screening for a rare genetic disease called Spinal Muscular Atrophy (SMA) which affects movement, breathing and swallowing.

Screening of newborns to detect and treat the rare condition will begin early next year, and run for two years.

Treatment given to very young children can effectively stop progression of the condition in its tracks.

With an average three to four babies a year are born with SMA, Health and Social Care Secretary Neil Gray said earlier diagnosis and treatment could make a difference to the lives of those affected:

“This condition can have devastating impacts for babies and their families and this investment demonstrates our commitment to early detection through our screening programme. I would like to thank SMA UK and all the campaigners across Scotland who have worked so hard to highlight this issue as well as Novartis for their funding.

“By detecting SMA before symptoms develop, screening could allow earlier treatment which could lead to much better life outcomes.

“This investment will contribute towards building the case for making this test permanent and help secure the best possible care and support for babies and families.”        

For over a year, campaigners have been urging the Scottish government to introduce screening for such rare conditions, criticising delays to newborn screening for SMA as “nonsensical”.

As part of this national screening programme, all parents will be offered SMA screening for their newborn babies through the existing blood spot test at five days old, which currently screens for other conditions including cystic fibrosis and sickle cell disorders.

One parent voice in the campaign for screening and CEO of charity SMA UK, Giles Lomax welcomed the news:

“We are absolutely delighted to hear the news that the NHS Scotland will be adding SMA to their newborn screening programme in an evaluative and research capacity, with the aim of the first baby being tested early 2026.

“With clinical pathways already established and disease modifying treatments approved, this means those babies born will be treated pre-symptomatically and can therefore, in many cases, follow normal developmental pathways.

“This is a hugely positive step forward with Scotland joining other countries around the world who already screen for SMA.”

The tests will be analysed at the Scottish Newborn Screening Laboratory on the Queen Elizabeth University Hospital campus in Glasgow.

Director and Consultant Clinical Scientist Dr Sarah Smith said:

“We are pleased to be supporting this important screening evaluation that will benefit babies and their families across Scotland by allowing babies with this condition to access treatment where it is appropriate more quickly, leading to better outcomes.

“We welcome these plans for SMA to be evaluated as part of our screening programme, allowing for evidence to be gathered on the test's effectiveness.”

Informing research and health policy

Partnering with pharmaceutical company Novartis which funded the Every Moment Matters for SMA campaign, the Scottish government will gather evidence on the screening test’s effectiveness during its screening pilot.

The Scottish government is providing funding of £95,000 towards the pilot, with Novartis providing £435,400.

The data generated across NHS Scotland over the two-year period will help contribute to an evaluation which will inform a UK-wide recommendation for SMA to be added to the bloodspot programme permanently.

Novartis UK and Ireland Chief Medical Officer Rob Hastings said:

"This is a landmark decision for families in Scotland, offering hope and an opportunity for early detection and access to care for children born with SMA.

"We welcome this progress and continue to support efforts to expand newborn screening across the UK, to ensure every child has the opportunity to be screened and treated for this rare and devastating condition.”