England to screen all newborns for spinal muscular atrophy in pilot study

All newborn babies in England are set to be screened for spinal muscular atrophy (SMA), a life-limiting muscle-wasting condition, through a new study that will use the existing heel-prick blood test carried out shortly after birth, the BBC reported (https://www.bbc.co.uk/news/articles/c07y77exx8eo).

The pilot, led by scientists at the University of Oxford, is expected to screen hundreds of thousands of babies and will help the UK National Screening Committee decide whether SMA testing should become a permanent part of the newborn screening programme (https://www.bbc.co.uk/news/articles/c07y77exx8eo).

Singer Jesy Nelson, whose son has SMA, welcomed the move as "a victory for every family affected by SMA," saying that early diagnosis would give future families "the opportunity for the best possible outcomes" (https://www.bbc.co.uk/news/articles/c07y77exx8eo). "Today is a day of hope," she said, adding that while it cannot change the future for children already affected, it "marks the beginning of a brighter future for future SMA families."

Health Secretary James Murray said he was "in awe" of campaigners who raised awareness of the condition, and that "no parent should have to watch their child lose the ability to move or breathe, knowing that earlier treatment could have made all the difference" (https://www.bbc.co.uk/news/articles/c07y77exx8eo). The rationale for screening is that identifying the condition sooner allows treatment to begin earlier, which campaigners and the government say can improve outcomes for affected infants.

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