22/10/2025
Ottawa, Ontario — Wednesday October 22, 2025
In the last decade, breakthrough discoveries have resulted in new therapies that dramatically improve the lives of infants with Spinal muscular atrophy (SMA) – but these therapies are most effective when given shortly after birth, so timely newborn screening (NBS) for this rare progressive neuromuscular disorder is essential. All Canadian provinces and territories now include SMA in their NBS programs, but there are still questions about the cost-effectiveness of this national program.
A new study from first author and research coordinator Alex Pace and Hugh McMillan, Alex MacKenzie and Pranesh Chakraborty is the first Canadian-specific economic evaluation of NBS for SMA.
“It’s incredible to see that, as of 2024, every baby born in Canada is screened for spinal muscular atrophy.” said Alex Pace, research coordinator and the study’s first author. “Early detection means clinicians can act immediately with life-changing therapy, and our research supports that this approach also creates lasting savings for our health-care system.”
The research showed that in a Canadian cohort of 356,000 newborns, NBS for SMA led to an estimated $146 million in cost savings and a gain of 872 quality-adjusted life years compared to no NBS or later treatment. These findings reinforce the value of SMA NBS as a tool which ensures infants with SMA receive the life-altering therapy they need, while also being a cost-effective public health strategy.