As the number of human genome sequences increases, the ability to share and re-use the resulting data is critical in fostering innovations in basic and biomedical research.

Canada, with its world-leading genomics expertise, has established foundational projects and datasets representing research and clinically derived genome sequences such as HostSeq, Marathon of Hope, All for One and Silent Genomes. In 2023, the Canadian Institutes of Health Research (CIHR), funded the development of a Pan-Canadian Genome Library (PCGL) aimed at the management and sharing of human genomic data. The PCGL initiative unifies Canada’s human genome sequencing efforts and sets out a central and federated data management system that leverages international standards and respects limitations on the jurisdictional and cultural movement of human genetic data.

The PCGL will work with projects from Genome Canada’s Canadian Precision Health Initiative (CPHI) to ingest their genomic data, and associated clinical and phenotypic data, to provide long-term archival and data discovery and access mechanisms.

Gaps were identified in terms of available resources required to interact, ingest and provide services at the scale required for the projects funded by the CPHI. Genome Canada’s funding will expand the scope of PCGL with dedicated staffing to support: 1) data harmonization and policy interoperability of CPHI project; 2) security and privacy assessments; 3) development of a trusted secure environment; 4) development of processes and mechanisms to support the governance of CPHI data; 5) development of a plan for long term governance and sustainability of the PCGL; 6) development of a process for the management of Indigenous data and 7) development of a quality control pipeline and reporting system for CPHI data.

The PCGL governance framework includes the integration of Equity, Diversity and Inclusion (EDI) principles, and data coordination guided by international standards* The main functions of the PCGL allow studies with genomic and phenotypic data to archive and facilitate the responsible use and sharing of the genomic data they have generated. Access to data will always respect the participant’s consent and be guided by the projects who contributed data. Specific PCGL services include: 1) Secure and sustainable data storage 2) Data discovery and access facilitation 3) Global Alliance for Genomics and Health (GA4GH) standards implementation and international linkages 4) Access to the PCGL to build community or commercial portals and 5) Centralized DAC (where possible).

Together these developments will ensure efficient and secure integration of the CPHI datasets into the PCGL, to facilitate long-term storage, responsible use and ultimately maximize the added-value of this national data asset.

*E.g., FAIR Guiding Principles for scientific data management and stewardship (Findability, Accessibility, Interoperability, and Reuse of digital assets), CARE Principles for Indigenous Data Governance (Collective Benefit, Authority to Control, Responsibility, Ethics), the First Nations principles of OCAP (Ownership, Control, Access and Possession) and GA4GH (Global Alliance for Genomics and Health) standards