Fund newborn screening for spinal muscular atrophy immediately

Every five days in the UK, a baby is born with spinal muscular atrophy (SMA), a severe muscle disease which, if untreated, can lead to complex disability and, at its most severe, death. If treatments available now are delivered at birth, these children have the best chance of long and healthy lives.

Several countries already have newborn screening (NBS) for SMA. A baby born in the US, will be screened for SMA, and can receive treatment if necessary. In the UK a baby is only tested for SMA after he/she presents symptoms, which are currently irreversible, or if a relative has typical symptoms of SMA. This inequality in life chances is not acceptable. Screening for SMA is safe, cost-effective, and extremely efficient. It could save lives and public money. For every 5 days that a decision is delayed, a baby with SMA could lose the chance of a brighter future.

Newborn blood spot screening enables early identification, referral and treatment of babies with nine rare but serious conditions. The programme helps to improve their health and prevent severe disability or even death.

For each condition screened for in the newborn blood spot screening programme, the benefits of screening have been demonstrated to outweigh the risks.

The UK National Screening Committee (UK NSC) advises the NHS and ministers on all aspects of screening continually reviews the evidence for newborn screening tests to assess the balance of harms and benefits. The UK NSC welcomes proposals for new conditions to be considered for screening via its annual call for topics, which runs from September to December each year. Stakeholders and members of the public can submit a proposal for consideration during this period. More information can be found here: https://www.gov.uk/government/publications/uk-nsc-evidence-review-process/uk-nsc-evidence-review-process

The evidence for spinal muscular atrophy (SMA) screening will be reassessed as part of the UK NSC’s 2021/22 programme of work, according to its regular triennial review process. When it was last reviewed in 2018, the UK NSC recommended that population screening for SMA should not be introduced. This is because the condition did not fit the UK NSC’s criteria for a viable, effective and appropriate screening programme, in summary:

* there was not enough information about the total number of people affected by SMA in the UK * evidence to show how effective a screening programme would be was not available * the evidence about the effectiveness, particularly long term, of newly available treatments in people who do not show symptoms of SMA was too limited * there was not enough evidence on how well the test for SMA performs * the best way to support people who receive positive results was not known.