Precision health has the potential to transform the healthcare experience in Canada. By applying advances in genomics, precision health can improve patient health and increase efficiency of healthcare delivery.
Genome Canada is committed to maximizing the benefits of precision health and is laying the foundation for the implementation of precision health in clinics across Canada. This strategy currently focuses on the clinical diagnosis of rare diseases – an underserved but defined demographic of patients. This work will be supported by a collaborative and internationally recognized group of clinician-researchers. The focus on rare diseases will support the development of the necessary infrastructure, processes, policies, and partnerships required for a broader national initiative.
The Genome Canada precision health strategy comprises four phases:
The first phase has been advanced through Genome Canada investments in large-scale genomics research projects in human health, including the 2004 Applied Genomics and Proteomics Research in Human Health Competition, the 2012 Genomics and Personalized Health Competition and the 2017 Genomics and Precision Health Competition . Projects in the latter two competitions covered the entire spectrum of precision health, including health maintenance and disease prevention, early detection, and disease treatment and prognosis.
Phase 1 of the strategy focused on building capacity within the health research community and identifying those areas where genomics could directly impact a patients’ well-being. The results of these research projects are now being felt in research hospitals across the country but still need to be integrated into a comprehensive national approach available to all Canadians.
Phase 2. Into the Clinic - Rare Disease Clinical Implementation
Genome Canada’s All for One initiative. This clinical implementation project will facilitate the uptake of genome-wide sequencing as a standard of care for rare diseases by the relevant ministries of health. It is funded as part of the All for One initiative, the goal of which is to improve the health and wellness of Canadians with serious genetic conditions by enabling access to a timely and accurate genomic-based diagnosis. Moreover, All for One will enable patients to benefit while helping others through the sharing of their clinical and genomic data within a learning health system. It lays a foundation for precision health in Canada.
To support the evolution of precision health the program is focused on six domains:
1. Access to genome-wide sequencing
Access to clinical genomic testing across Canada is inconsistent. Different disease domains are operating independently, and access is often correlated with socioeconomic and/or regional differences. To ensure the benefits of precision health are properly deployed on a national scale, resources and best practices need to be deployed equitably. Genome Canada’s Genomic Applications Partnership Program (GAPP) is being used to develop clinical genomic testing sites across the country. Projects must have the support of the provincial or regional authority responsible for clinical implementation.
Active All for One projects:
- British Columbia: Implementation of Diagnostic Whole Genome Sequencing for Rare Diseases in British Columbia
- Alberta: TIGeR: Translational Implementation of Genomics for Rare diseases
- Prairies: Canadian Prairie Metabolic Network
- Quebec: Rapid Whole-Genome Sequencing in Acute Care Neonates and Infants
- Atlantic Canada: Implementation of Clinical Exomes in a Pre- and Peri-Natal Setting
- Data sharing: All for One Policy Toolkit
2. Data governance to tackle social, economic and policy issues
An individual’s genomic data must be treated with utmost privacy while also ensuring it can be fully realized to benefit the individual’s health. Canada has become a world leader on data governance policy, evidenced by its role at the Global Alliance for Genomics and Health.
3. A national data ecosystem for data sharing
Genome Canada is in the process of developing a pan-Canadian data ecosystem with the overarching goals of connecting data across clinical sites and leveraging clinical care data for use in research. The ecosystem will allow data sharing between institutions, across jurisdictional boundaries and between clinical and research settings. Three tiers are envisaged: local clinical sites, provincial staging areas for data harmonization, and a research cloud with de-identified and aggregated data.
A working group has convened Canadian and international experts to provide input on the model. A funding opportunity will also be launched to develop the ecosystem. A schematic view for the proposed data ecosystem:
4. A rare disease cohort to achieve necessary scale for utility and insight
Sequencing a large rare disease cohort will be a powerful tool for cementing genome-wide sequencing as a standard-of-care across the country. The rare disease cohort will include 30,000 individuals (10,000 rare disease patients and 20,000 parents). The cohort will initially be built through currently funded projects and the programs established through GAPP as described above.
5. Patient and community engagement
Patients and their families are at the core of the work being done in the research and clinical settings, which is why engagement with the community of stakeholders affected by rare diseases must be consulted. Robust consultation with patients and their families can help ensure that genomic solutions address current diagnostic and treatment concerns. Outreach programs are currently being developed with the Canadian Organization for Rare Diseases (CORD).
6. Engagement and education with healthcare professionals
For genomics to have an effect on clinical practice, the genomic literacy of healthcare professionals must be advanced, as well as seeking their input on the development of the program. Seminars and presentations in hospital settings and at meetings, such as the Canadian College of Medical Geneticists Annual Scientific Conference, will be used to enhance genomic literacy for these practitioners.
Presently, Genome Quebec offers a training program for healthcare professionals in the province of Quebec. The program focuses on training in genomics in clinical practices and is delivered in partnership with the Quebec Network for Personalized Health Care (QNPHC) and Health Education England (HEE). This unique opportunity may serve as a model for future training programs across Canada.
Phase 3. Beyond Rare Disease - Clinical Implementation of Other Disease Indications. The rare disease program will be a vehicle for creating a learning healthcare system and advancing the next generation of healthcare delivery. With the right foundations in place, clinical implementation will advance in other areas, such as pharmacogenomics and cancer. As initiatives in pharmacogenomics, oncology and other areas mature so will the need to establish mechanisms for aggregation of data across the country. The experience gained through the rare disease program will be relevant in organizing data, patient consent, access and governance.
Phase 4. This is Canada - Building a National Database through a Large-Scale Population Cohort: The health and wealth of a nation will increasingly be based on the management of large national data assets. These data sets are essential for the delivery of precision health as they provide the baseline and can serve as powerful engines for future innovation and economic development. In this phase, researchers will sequence a large national population cohort (e.g. 100,000+ Canadians) to fuel a robust adoption of precision health in Canada. Such a cohort would be representative across disease, demographic, ancestry and region and would capture the uniquely Canadian population.
For more information: Pathway to the Clinical Implementation of Genome-Wide Sequencing for Rare Disease (PDF)
Read the press release regarding the launch of our program.
 Cohort in this context refers to a collection of patient or subject data and not an epidemiological construct.