Newborn screening for spinal muscular atrophy moves closer to nationwide coverage in England

Newborn screening for spinal muscular atrophy (SMA) will be available across 72 per cent of England from October 2026, with the remaining screening laboratories expected to join the programme from October 2027. This would give every baby born in England access to screening for SMA through the newborn blood spot test, alongside the other 10 diseases currently tested for.  

SMA is a rare genetic condition that causes progressive muscle weakness. Infants treated before symptoms develop often achieve substantially better motor outcomes than those treated after symptoms appear., as damage to motor neurons is largely irreversible. Identifying affected babies soon after birth can therefore make a substantial difference to their health and development.  

This progress is partly the result of tireless campaigning by MRC CoRE PI Professor Laurent Servais, who has worked to build the case for adding SMA to the UK newborn screening programme since at least 2019.

Prof Laurent Servais said: “This is an important step for babies born with SMA and for the families who have waited for it. Screening only matters if it leads to treatment in time, and this is a sign that the system is finally moving in that direction. That is why we have been continuously pushing since 2019 to get it, with the support of the entire community of physicians involved in patients management and with patients advocacy." 

For the MRC CoRE of Research Excellence in Therapeutic Genomics, this announcement illustrates why diagnosis and treatment need to be considered as part of the same pathway. Genetic medicines are already changing outcomes for conditions such as SMA, but their effect depends on patients being identified early and having timely and equitable access to care.

The phased introduction will also generate evidence about how screening can be delivered safely and consistently. Continued involvement from families, clinicians and patient organisations will be important as the service develops, including work to ensure that access does not depend on where a child is born.

Read more about it on the SMA website: https://smauk.org.uk/advocacy/newborn-screening-for-sma-takes-another-major-step-forward/ 

Read the Department of Health and Social Care Press Release: https://www.gov.uk/government/news/every-baby-in-england-to-get-life-saving-genetic-test-from-birth