Broaden newborn screening programmes

Screening for spinal muscular atrophy is a step forward, says Dr Janet Hoskin, but what about other serious genetic conditions such as Duchenne muscular dystrophy?

Published 21 July 2026 572 words
SOCIETY C1
Broaden newborn screening programmes

The decision to include spinal muscular atrophy (SMA) in newborn screening is a significant positive development for families and campaigners. It means that children can receive treatment earlier, leading to better health outcomes and providing families with much-needed clarity during a very important stage.

However, this achievement leads to an important question: why are other serious genetic conditions, like Duchenne muscular dystrophy (DMD), not yet part of newborn screening programmes? Approximately 100 boys are born with DMD each year. This condition causes muscles to weaken progressively and is often only identified after many years of worry and uncertainty for the family. While new treatments such as Givinostat are starting to offer some hope for affected young people, diagnosing the condition early remains crucial. Early diagnosis helps families get access to information, specialist medical care, and support more quickly, and it may allow more children to benefit from new and developing treatments.

From my research with families affected by DMD and organisations like Duchenne UK, I have heard many stories about delayed diagnoses. Parents often report multiple visits to the doctor and years spent trying to find out what is wrong. Some parents only discover their child has the condition after having more children who are also affected. For a large number of families, reaching a diagnosis is the end of a long and draining process.

Newborn screening is not solely about enabling access to treatment. It also allows families to prepare for the future and arrange the necessary support their children will require. Far too often, families of children with disabilities face long struggles with health and social services before they receive appropriate help.

Campaigners deserve significant recognition for successfully introducing newborn screening for SMA. I hope this important milestone signals the start of a wider discussion about other rare genetic conditions and the obstacles that families continue to encounter. Every child deserves the best possible start in life. Every family deserves a timely diagnosis, practical support, and the chance to live well.

Vocabulary

significant positive development — A very important and good change or improvement.
health outcomes — The results of a person's health after receiving medical care or treatment.
uncertainty — The state of being unsure about something; doubt.
progressive — Happening or developing gradually or in stages.
emerging treatments — New medical treatments that are still being developed and tested.
delayed diagnoses — The situation where a medical condition is identified later than it should have been.
draining process — An activity or experience that is very tiring and uses up a lot of energy.
secure the support — To obtain the necessary help or assistance.
face lengthy battles — To have to deal with long and difficult struggles, often with organisations or systems.
meaningful support — Help that is useful and has a positive impact on people's lives.

Discussion Questions

  1. Why is early diagnosis considered crucial for conditions like SMA and DMD?
  2. What are some of the challenges families face when their child is diagnosed with a rare genetic condition?
  3. What does the author hope will be the outcome of the successful SMA screening programme introduction?

Based on an article from The Guardian.

Read the original article