NMD4C: The Neuromuscular Disease Network for Canada

On behalf of its Newborn Screening (NBS) Advisory Panel, Canada’s Drug Agency (CDA) recently published a discussion paper outlining its approach for developing Canadian newborn screening guidance. The goal of this discussion paper is to outline the foundations for a set of national guidelines for provincial and territorial governments to inform the development of their NBS programs. CDA have issued a call for input in response to this paper, providing an opportunity for the Canadian healthcare community to help shape the formation of these national NBS guidelines.

A group of NMD4C investigators submitted a response to this discussion paper, led by network co-lead Dr. Homira Osman, with input from neuromuscular experts including Dr. James Dowling, Dr. Hanns Lochmüller, Dr. Alex MacKenzie, Dr. Hugh McMillan, Dr. Maryam Oskoui, Dr. Kathryn Selby and Dr. Pranesh Chakraborty.

The author group noted that while the discussion paper from the CDA outlines important aspects of newborn screening, it fails to address critical issues related to infrastructure, national standards, and the integration of emerging technologies. The group identified that a broader approach is needed—one that encourages innovation, addresses systemic lab issues, and ensures equitable implementation across all provinces.

The authors recommended the creation of a national framework that sets minimum standards while allowing for the necessary flexibility to adopt new treatments and technologies as they become available. The system must be prepared for the future, and free from rigid processes that prevent timely advancements.

For any questions about future group recommendations from the network, please contact Dr. Homira Osman at .