Canada's rare disease landscape presents a unique opportunity for innovation and improvement. The country has made significant strides in developing foundational components for a learning health ecosystem, but these efforts are often hindered by short-term funding cycles and limited budgets. This article explores the importance of data sharing and discovery research in advancing rare disease diagnosis and care, and proposes a federated approach to building a sustainable and integrated system.
The Power of Data Sharing
The advent of genomic DNA sequencing has revolutionized the diagnosis of rare diseases. However, interpreting DNA variants requires access to large-scale datasets containing information on variant frequency, functional effect, familial inheritance, and clinical presentation. This necessitates data sharing, a process that enables the exchange of information from various sources. The All for One Data Sharing Agreement in Canada has established a framework for responsible data sharing between diagnostic laboratories, and many laboratories voluntarily contribute to the Canadian Open Genetics Repository (COGR). The Silent Genome's Indigenous Background Variant Library (IBVL) further highlights the importance of data sharing, particularly for Indigenous communities.
The Role of Discovery Research
Accurate diagnosis of rare diseases also relies on ongoing discovery research. Many patients harbor variants in genes not yet definitively linked to disease, or have insufficient evidence to support a diagnosis. Research initiatives like Care4Rare aim to uncover associations between uncharacterized genes and unsolved rare diseases. By linking participants' data to global genomic databases, these initiatives contribute to the development of crucial evidence for disease gene associations. The Pan-Canadian Genome Library (PCGL) plays a vital role in centralizing and sharing Canadian genomic data, enhancing accessibility for future research.
Building a Sustainable System
While Canada has impressive individual efforts, they are not enough to create a sustainable learning health system. A federated approach, where data remains within trusted institutions while becoming discoverable and usable through shared standards, governance, and infrastructure, is proposed. This aligns with the Expert Advisory Group's call for stronger health data foundations, including federated governance, interoperability, supportive policy, and public engagement.
Key Shifts for Data Sharing
To make responsible data sharing routine, Canada needs four critical shifts:
- Federal Leadership: Canada should follow the lead of countries like England, Australia, and Denmark, which have established national strategies or government bodies for genomic medicine and health data infrastructure, backed by substantial long-term investments.
- Core Diagnostic Infrastructure: Data sharing should be recognized as a core component of diagnostic infrastructure, and its costs should be integrated into funding models for genomic testing.
- National Standards: Clear pan-Canadian requirements for publicly funded genomic testing, including eligibility criteria, laboratory accreditation, and professional certification, are necessary. Standardized collection of phenotype, genotype, variant interpretation, consent, and outcomes data is also crucial.
- Patient Partnership: Patients, families, and communities should be active partners in governance, ensuring that data sharing is purposeful, transparent, secure, reciprocal, and aligned with their priorities.
In conclusion, Canada has the potential to create a more integrated and effective system for managing rare diseases. By embracing data sharing, discovery research, and a federated approach, the country can transform local successes into a comprehensive and equitable healthcare system. Sustained investment, policy alignment, and coordination across jurisdictions and sectors are essential to realizing this opportunity.
