National Newborn Screening and Treatment for SMA in Canada

Canada achieved nationwide implementation of newborn screening for spinal muscular atrophy in August 2024, establishing a standardized public health approach across all provinces and territories. A cross-sectional survey of provincial laboratory directors evaluated over 1.5 million screened infants to determine national birth prevalence and catalog testing methodologies. The calculated birth prevalence for the condition stood at approximately 1 in 12,524 live births, with survival motor neuron 2 gene copy numbers aligning closely with international proportions. Despite universal screening implementation, significant interprovincial variability persists regarding laboratory testing protocols, reporting practices, and the timing of results availability during initial family contact. Furthermore, inequities remain in the regional reimbursement of disease-modifying therapies, particularly affecting newborns diagnosed with four copies of the modifier gene despite growing expert consensus favoring early treatment.