Spinal Muscular Atrophy: Screening

The Government recognises the challenges faced by those living with rare diseases and their families and is committed to improving outcomes. For very rare conditions, it is difficult to generate robust evidence to demonstrate the value of screening, because so few babies are affected. This is why we are funding a large-scale in-service evaluation (ISE) of screening for spinal muscular atrophy (SMA) in newborn screening services, to fill the remaining evidence gaps, as recommended by the UK National Screening Committee.

The ISE which was due to start in January 2027 will now start three months earlier, in October 2026. The evidence from this ISE will inform a decision on whether to extend the National Health Service newborn blood spot screening programme and include screening for SMA.

We are aware that families are concerned that the evaluation will only cover part of the country and, as such, some babies may be diagnosed too late for effective treatment. This is why we have asked officials to work at pace to determine if the ISE can be expanded to cover all of England.