Newborn screening expansion raises questions about other genetic conditions

A letter from Dr Janet Hoskin, associate professor at the University of East London, published in The Guardian on July 21, 2026, discusses the recent decision to introduce newborn screening for spinal muscular atrophy (SMA) in England starting in 2027. Dr Hoskin describes this as a major breakthrough for families and campaigners, noting that early diagnosis allows children to access treatment sooner and improves outcomes. However, she questions why other serious genetic conditions, such as Duchenne muscular dystrophy (DMD), remain excluded from newborn screening programmes. She states that about 100 boys are born with DMD each year, and the condition is often diagnosed only after years of uncertainty. Dr Hoskin reports that through her research with families and organisations such as Duchenne UK, she has heard accounts of delayed diagnoses, multiple GP visits, and years spent searching for answers. She argues that newborn screening enables families to plan for the future and secure support, and she hopes the SMA milestone marks the beginning of a broader conversation about other rare genetic conditions.

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Sources: The Guardian