The decision to introduce newborn screening for spinal muscular atrophy (SMA) is a major breakthrough for families and campaigners (All newborns in England to be screened for spinal muscular atrophy from 2027, 16 July). Early diagnosis means children can access treatment sooner, improving outcomes and giving families clarity at a crucial time.
Why exclude Duchenne muscular dystrophy?
However, this success raises an important question: why are other serious genetic conditions, such as Duchenne muscular dystrophy (DMD), still excluded from newborn screening programmes? About 100 boys are born with DMD each year. It causes progressive muscle weakness and is often diagnosed only after years of uncertainty. Although new treatments such as Givinostat are beginning to offer hope for some young people, early diagnosis remains vital. It can help families access information, specialist care and support much sooner, and may allow more children to benefit from emerging treatments.
Delayed diagnoses and family impact
Through my research with families affected by DMD and organisations such as Duchenne UK, I have heard repeated accounts of delayed diagnoses, multiple GP visits and years spent searching for answers. Some parents only discover the condition after having additional children who are also affected. For many, the diagnosis comes after a long and exhausting journey.
Newborn screening is not only about access to treatment. It also enables families to plan for the future and secure the support their children need. Too often, families of disabled children face lengthy battles with services before receiving appropriate help.
Campaigners deserve enormous credit for achieving newborn screening for SMA. I hope this milestone marks the beginning of a broader conversation about other rare genetic conditions and the barriers families continue to face. Every child deserves the best possible start in life, and every family deserves timely diagnosis, meaningful support and the opportunity to thrive.
Dr Janet Hoskin is associate professor at the University of East London.
