An in-service evaluation (ISE) of newborn screening for spinal muscular atrophy (SMA) is set to begin in England from October 2026.
The programme will assess the feasibility of adding SMA to the existing NHS newborn blood spot (heel prick) screening test. The evaluation is expected to include around 404,000 newborns, while a comparison group of approximately 163,000 babies will not be screened as part of the study design.
SMA is a genetic condition that affects motor neurons and can lead to progressive muscle weakness and reduced life expectancy. Newborn screening for SMA is part of Genomics England's Generation Study, a wider programme which also aims to sequence the whole genomes of 100,000 newborns to identify treatable rare genetic conditions (see BioNews 1172, 1259, 1262 and 1312).
The ISE forms part of the UK National Screening Committee's evidence-gathering process to determine whether SMA screening should be recommended for routine inclusion in the national newborn screening programme.
The Scottish Government has already launched a two-year pilot study to evaluate the early detection of SMA using the existing blood spot test taken around four days after birth (see BioNews 1333).
Please visit the UK National Screening Committee Blog for more information.