Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, whether his Department plans to review the available (a) clinical and (b) cost-effectiveness evidence on including spinal muscular atrophy in the newborn screening programme.

The Government recognises the challenges faced by those living with rare diseases and their families and is committed to improving outcomes. This is why the National Health Service is planning a large-scale in-service evaluation (ISE) of screening for spinal muscular atrophy (SMA) in newborn screening services.

Following a recommendation from the UK National Screening Committee to gather further evidence in live NHS settings, an ISE of newborn screening for SMA is being planned. The research component of the ISE is being commissioned through the National Institute for Health and Care Research Health Technology Assessment Programme and will assess the clinical benefits and potential harms of screening for SMA, as well as its cost-effectiveness for the NHS, to inform future decision-making.

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 NHS 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. We have asked our officials to work at pace to determine if the ISE can be expanded to cover all of England.