Rethinking rare disease diagnosis in Canada

Rethinking rare disease diagnosis in Canada Authors from the Canadian Rare Disease Network (CRDN) explain how a genomics-informed learning health system would facilitate better data sharing and improve diagnostic processes, ultimately benefiting patients with rare diseases. Rare diseases (RDs) collectively affect more than 3 million people in Canada, yet timely diagnosis remains one of the most persistent challenges in the health system. For individuals and families, a diagnosis is not simply a label – it is a gateway to appropriate care, access to therapies and clinical trials, participation in research, and connection to essential supports.