The decision to introduce newborn screening for spinal muscular atrophy (SMA) in England by 2027 is a major breakthrough, but Dr Janet Hoskin argues that other serious genetic conditions, such as Duchenne muscular dystrophy (DMD), should also be included.
SMA screening success raises questions
According to Dr Hoskin, an associate professor at the University of East London, early diagnosis through newborn screening allows children to access treatment sooner, improving outcomes and providing families with clarity. However, she questions why conditions like DMD remain excluded.
About 100 boys are born with DMD each year in the UK. The condition causes progressive muscle weakness and is often diagnosed only after years of uncertainty. New treatments such as Givinostat offer hope, but early diagnosis remains vital for accessing specialist care and emerging therapies.
Delayed diagnoses cause distress
Through her research with families affected by DMD and organisations like Duchenne UK, Dr Hoskin has 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.
“Newborn screening is not only about access to treatment,” Dr Hoskin writes. “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.”
Call for broader conversation
Dr Hoskin commends campaigners for achieving SMA screening and hopes 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,” she concludes.
