Review the evidence and fund the addition of SMA to the Newborn Screening Test

We urge the UK Government to fund and help fast-track the process to add SMA to the NHS newborn heel-prick test. SMA is a rare genetic condition with devastating consequences if not treated early. Every baby should be screened at birth to allow early diagnosis and access to life-changing treatment.

SMA was one of the leading genetic causes of infant mortality: up to 90% of untreated babies either died before age two or required permanent ventilation. It is now treatable, but treatment is most effective before symptoms appear. Early diagnosis can give babies the chance at a life without severe disability. Without screening, many babies are diagnosed too late. The damage already caused to their mobility, breathing and swallowing cannot be reversed. Scotland has committed to piloting SMA newborn screening this year. All babies should have the same chance. No child should suffer avoidable harm.

The Government is grateful to campaigners who have made a powerful case for doing more on screening for spinal muscular atrophy (SMA). We are committed to seeing more children with SMA not just surviving but thriving.

Ministers and the NHS in all four nations of the United Kingdom are advised on all screening matters by the UK National Screening Committee (UK NSC), an independent scientific advisory committee which is made up of leading medical and screening experts. Where the Committee is confident that to offer screening provides more good than harm, they recommend a screening programme. Ministers in each of the four nations then make a decision on whether to accept the recommendation.

As recommended by the UK NSC, we are working at pace to roll out an In-Service Evaluation (ISE) in NHS screening services in England. An ISE is used where a change in screening policy is justified by strong evidence, but important evidence gaps still remain that can only reasonably be filled by evaluation in a live NHS setting. The UK NSC uses ISEs to support its screening recommendation process and inform wider policy decisions about screening.

There are a number of areas where evidence gaps exist which an ISE of newborn screening for SMA will help to fill:

1. Feasibility The ISE will test the optimum clinical pathway and test methodology within the context of a nationally delivered newborn blood spot programme in the NHS, ensuring the safe movement of babies through the screening pathway. This includes testing the logistics of administering a programme that is delivered consistently by multiple geographically separated and commissioned screening and genetics laboratories, treatment referral centres and IT systems, including the establishing of sustainable data collection systems for longer-term outcomes.