Data infrastructure is the foundation of a learning health ecosystem: A Canadian challenge for rare genetic diseases

Abstract

With sustained investment and a national vision, Canada has the potential to create a more integrated and effective system for managing rare diseases. In the first article in this series, we argued that Canada needs to move toward a genomics-informed learning health system for rare disease (RD); one in which diagnosis, care, discovery, and patient outcomes are connected in a continuous cycle of learning. Canada possesses many of the foundational components. Across the country, clinicians, clinician-scientists, and researchers have developed innovative programs and infrastructure. However, these initiatives are too often supported through short-term funding cycles and limited budgets that are insufficient to sustain, scale, or integrate successful programs over the long term. At the same time, funding structures often prioritize new initiatives over the expansion and coordination of existing ones, contributing to duplication of effort and a tendency to reinvent the wheel.