Canada's rare genetic diseases present a unique challenge, but with the right infrastructure and vision, the country can create a transformative learning health ecosystem. The key to this lies in data sharing and discovery research, which are often overlooked in the face of short-term funding cycles and limited budgets. While Canada has made impressive strides in developing innovative programs and infrastructure, these initiatives are not enough to sustain, scale, or integrate successful programs over the long term. This is where a federated approach comes in, allowing data to remain within trusted institutions while becoming discoverable, comparable, and usable through shared standards, governance, and infrastructure. This aligns with Canada's Expert Advisory Group on the Pan-Canadian Health Data Strategy, which calls for stronger health data foundations, including federated governance, interoperability, supportive policy, and public engagement.
An accurate diagnosis relies on data sharing, which has been transformed by genomic DNA sequencing in the past 15 years. However, knowing someone’s DNA sequence alone does not always provide a diagnosis. To determine whether differences in someone’s DNA are disease-causing, they must be compared to genomic and clinical data from thousands of other individuals. This requires accessing or exchanging information from many sources, called ‘data sharing’. The All for One Data Sharing Agreement in Canada has created a framework to enable responsible sharing of clinically generated genomic and health data between diagnostic laboratories. Many of these laboratories also voluntarily participate in sharing their interpretations of DNA variants through the Canadian Open Genetics Repository (COGR).
An accurate diagnosis also relies on discovery research, as many patients harbor variants in genes not yet definitively linked to disease, or have insufficient evidence to support a diagnosis. To bridge this gap, multiple research initiatives aim to uncover associations between uncharacterized genes and unsolved RDs. For instance, Care4Rare is a Canadian research program that analyzes genomic data to identify new disease-gene relationships. On a national scale, the Pan-Canadian Genome Library acts as a centralized resource for responsible storage and sharing of Canadian genomic data, making these datasets far more accessible for future RD research.
Canada has the pieces but not yet a system. A learning health system cannot depend indefinitely on research projects with time-limited funding, heroic workarounds, or voluntary alignment among already stretched clinical institutions. To make responsible data sharing routine rather than exceptional, Canada needs four shifts: federal leadership for genomic data sharing, recognition and funding of data sharing as core diagnostic infrastructure, establishment of national standards for RD testing and data, and partnership with patients, families, and communities in governance. For Canada, the opportunity is significant: every test, every unsolved case, every diagnosis, and every patient experience can help strengthen the system for the next person. But this will only happen if data sharing is treated as core health infrastructure, supported by sustained investment, policy alignment, and coordination across jurisdictions and sectors.
