NHS newborn testing gap exposed by SMA diagnoses

Singer Jesy Nelson’s twin daughters were diagnosed with spinal muscular atrophy after months; the UK does not currently include SMA in routine newborn screening across England, while pilots and a Scotland rollout are planned.

Jesy Nelson's eight-month-old twin daughters were diagnosed with spinal muscular atrophy (SMA) after several months of investigation and testing. Their case has drawn renewed attention to how newborn genetic conditions are screened in the UK. Routine newborn blood spot testing in England currently covers a small set of conditions and does not include SMA nationwide. Health bodies have said past decisions reflected limited evidence, and new pilots and studies are now under way to gather more data. Key points: - Jesy Nelson’s daughters were diagnosed with Type 1 SMA after symptoms were initially described as typical for premature babies; treatment began months after birth. - SMA is a severe genetic condition where treatments such as gene replacement are reported to be much more effective when given very early, often soon after birth. - In 2018 the UK National Screening Committee recommended against adding SMA to the newborn screening panel; it began a reassessment in 2023 and announced plans for a pilot study in 2024. - Scotland has announced it will start newborn SMA screening from the spring; SMA is not yet screened for routinely elsewhere in the UK. - The Generation Study, run by NHS England and Genomics England, began recruitment in 2024 to screen up to 100,000 babies for more than 200 genetic conditions. - Around 70 babies are reported to be born with SMA in the UK each year. Summary: The account underscores that delays in diagnosis can limit the potential benefits of early treatments for conditions like SMA. National policy previously excluded SMA from routine newborn screening on the basis of limited evidence; current actions include an NSC reassessment, a planned pilot study and the Generation Study, plus Scotland’s announced screening roll-out. Whether and when SMA will be added to newborn screening across the rest of the UK remains undetermined at this time.