Defining a Canadian data solution that will deliver precision health for rare genetic disease
A key component of the All for One precision health initiative is the development of a Pan-Canadian Health Data Ecosystem—connecting and leveraging genomic data across clinical sites to improve patient care and drive research breakthroughs. The ecosystem will enable data sharing between institutions, across jurisdictional boundaries and between clinical and research settings.
We envision three main tiers of data integration:
- Regional clinical sites and institutions
- Provincial staging areas for data harmonization
- A plan for national clinical and genomic data sharing to connect provinces
Needs assessment – Spring 2022
A needs assessment was launched on April 1, 2022 to shape Pan-Canadian Health Data Ecosystem development. This important initial development phase will shape our approach to enabling the most high-impact use cases for data sharing, including building governance and meeting technical requirements.
Clinical genome-wide sequencing (GWS), which includes exome and genome sequencing, has become standard of care for the diagnosis of complex rare genetic disease (RD). Until recently, all provinces across Canada have been sending clinical GWS to private, mostly US-based, labs for sequencing, analysis and interpretation. With the support of Genome Canada’s Genomics Applied Partnerships Program (GAPP), provinces are patriating clinical GWS and integrating it into the diagnostic care pathway for complex RD. Six GAPP projects (British Columbia, Alberta, Prairie, Ontario, Québec, Atlantic) share a vision to deliver on the promise of precision health for RD. To realize this vision, the GAPP projects identified two goals: facilitate high-quality clinical GWS as standard-of-care and provide access to precision health research for Canadians with RD. Significant barriers to achieving these goals include a lack of comprehensive databases for analyzing and interpreting sequencing data, and the resource-intensive processes for inviting Canadians living with RD to participate in research. Given the Canadian context of healthcare as a provincial responsibility with relatively low clinical GWS volumes and a variety of clinical data custodians, a comprehensive national approach is needed that accommodates the challenges of sharing data across jurisdictions. This project will engage with end-users and stakeholders to perform a robust needs assessment and develop a detailed plan for a health data ecosystem.