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A Precision Health Strategy for Canada: Think big, start small, learn fast

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:

Phase 1. Laying the Foundation - Precision Health Large-Scale Applied Research Projects: 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: The second phase involves the clinical implementation of a national precision health program for rare diseases. Genome sequencing for rare diseases is already occurring in research settings across the country; however, clinical-specific processes, policies and infrastructure are needed to properly apply the results in the clinic. Ultimately, this phase of the project will allow every Canadian with a rare disease the opportunity for a diagnosis and hope of an effective treatment. A National Advisory Committee has been established to serve as an interim body to provide advice as the partnership progresses, and a Mission Statement has been developed.

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.

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[1] 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.

National Strategy for Clinical Implementation of Precision Health: Rare Disease Pilot
Genome Canada’s National Advisory Committee

Laura Arbour
Professor Medical Genetics
University of Victoria 

François Bernier
Professor and Head, Department of Medical Genetics
University of Calgary
Section Chief, Clinical Genetics
Alberta Health Services 

Kym Boycott
Medical Geneticist, Regional Genetics Program
Children's Hospital of Eastern Ontario
Associate Professor
University of Ottawa

Andrew Casey
President and CEO

Jan Friedman
Medical Genetics
University of British Columbia 
Peter Goodhand
The Global Alliance for Genomics and Health (GA4GH)

Bettina Hamelin 
President and CEO 
Ontario Genomics

Bartha Maria Knoppers
Director, Canada Research Chair in Law and Medicine
Centre of Genomics and Policy
Faculty of Medicine
McGill University

Christopher McMaster
Professor and Department Head
Department of Pharmacology and Department of Pediatrics
Dalhousie University 

Jacques Michaud
Scientific Director
CHU Sainte-Justine and
Génome Québec Integrated Clinical Genomics Centre in Pediatrics 

Martin Somerville
Head of Division of Genome Diagnostics
The Hospital for Sick Children
University of Toronto

Durhane Wong-Rieger
President and CEO
Canadian Organization for Rare Disorders 
Rob Annan
President and CEO
Genome Canada

Cindy Bell
Executive VP, Corporate Development
Genome Canada 

Wyeth Wasserman
Executive Director
BC Children's Hospital Research Institute
Associate Dean for Research, Faculty of Medicine
University of British Columbia 





[1] Cohort in this context refers to a collection of patient or subject data and not an epidemiological construct.