Universal SMA Screening Set for England by October 2027
Newborns across England will receive spinal muscular atrophy detection as part of the standard heel-prick test, expanding a crucial public health initiative.
Image: Eddie Pollard / AI
Callum Smith
All newborns across England will undergo screening for spinal muscular atrophy (SMA) starting in October 2027, integrating a vital diagnostic tool into routine healthcare.
This expansion incorporates SMA detection into the existing heel-prick test, which currently screens for 10 other conditions, including cystic fibrosis, sickle cell disease, and chronic hypothyroidism.
The move represents a significant shift in public health policy, identifying a condition that directly impacts nerve cells controlling muscle function.
SMA results from a faulty version of the SMN1 gene, a genetic defect leading to severe muscle weakness and atrophy.
Campaigners state this universal testing regime will lead to babies found to have SMA receiving early treatment, potentially allowing them to grow up without debilitating symptoms.
The historical context of newborn screening programs in the UK shows a gradual expansion, with the heel-prick test itself evolving from a single-condition screen for phenylketonuria (PKU) in the 1960s to its current multi-panel format.
Each addition to the screening panel, like SMA, follows rigorous evaluation, balancing the benefits of early detection against the costs and potential for false positives.
Beyond the legal debate, Jesy Nelson's twins, Ocean and Story, received an SMA diagnosis at six months old; Nelson states earlier intervention could have changed this outcome.
If the issue had received serious attention a few years ago, her girls might not be in their current situation.
Nelson states that if the issue had received serious attention a few years ago, her girls might not be in their current situation.
Their future remains uncertain as medics assess muscle damage; Nelson indicates her twins will likely never walk.
She also notes her twins' numbers declined during three-month tests, and they may require further treatment if no progress occurs.
Nelson asserts that receiving treatment from birth would have created a 'whole different ball game' for her children.
She highlights the uncertainty of treatment outcomes when SMA is diagnosed later in life, acknowledging that while many babies have positive outcomes, not all do.
Nelson describes the current situation as a 'guessing game' regarding effective treatments for her daughters.
The stakeholder landscape includes parents, medical professionals, and advocacy groups, all pushing for comprehensive screening.
A previous announcement indicated screening would cover only 72% of England by October, Nelson claimed, leaving some babies unscreened based on their location.
Nelson called this a 'postcode lottery' and stated it was unfair, highlighting disparities in healthcare access.
Meanwhile, the Department of Health and Social Care seeks an additional £5 million to broaden the evaluation of the screening program, funding a significant undertaking.
Scotland also establishes a similar screening program, funded through the private sector, indicating a broader national movement towards SMA detection.
Babies with the more severe Type 1 form of SMA can require a machine for nighttime breathing and feeding tubes, demonstrating the critical nature of early intervention.
Great Ormond Street Hospital provides specialized care for children diagnosed with SMA, serving as a key institution in managing the condition.
This strategic shift follows Nelson stating her public platform was crucial in bringing serious attention to SMA screening, leveraging her visibility to advocate for change.
She states no parent should endure the experience of their child having SMA, a sentiment echoed by many families affected by the condition.
No parent should endure the experience of their child having SMA. I express frustration at the prospect of explaining to my daughters that their diagnosis was missed at birth because SMA was not part of the heel-prick test.
Nelson expresses frustration at the prospect of explaining to her daughters that their diagnosis was missed at birth because SMA was not part of the heel-prick test.
Her new Prime Video documentary, 'Jesy Nelson: Life Changing,' explores her family's experience with SMA, further amplifying the conversation around early screening.