Changing the course of rare diseases

Rare diseases are not actually rare. In fact, they affect one in twelve people in Canada. Many of these are children, whose families must often endure a long diagnostic odyssey before finding out they have one of thousands of rare diseases, many of which do not have treatment options.

Breakthroughs in precision health, which harnesses the power of genome sequencing for diagnosis and treatment of genetic conditions, are revolutionizing healthcare. But access to clinical genomic testing is inconsistent across Canada.

For over two decades, Genome Canada has invested in the power of genomic science across the country, to advance rare disease knowledge—from diagnostics to screening to treatment. And, through partnership and coordination, we are making a real impact in rare disease research and innovation.

Notably, over the past four years, Genome Canada has funded top clinical and research leaders across Canada with the goal of implementing genome sequencing as standard of care for the diagnosis of rare diseases. The All for One Precision Health Partnership was launched in 2022 with six important projects. These projects are benefiting patients and their families, driving impact by augmenting regional capacity, promoting equitable and ethical uptake, and bolstering data sharing. The projects include:

• Implementation of Diagnostic Whole Genome Sequencing for Rare Diseases in British Columbia led by Anna Lehman (University of British Columbia) in B.C.
• TIGeR: Translational Implementation of Genomics for Rare Diseases led by François Bernier (University of Calgary) in Alberta.
• Canadian Prairie Metabolic Network led by Cheryl Rockman-Greenberg (Max Rady College of Medicine, University of Manitoba) in the Prairies.
• Optimization and Implementation of a Clinical Genome-Wide Sequencing Service for Rare Disease Diagnosis in Ontario led by Kym Boycott (CHEO Research Institute, University of Ottawa) and Martin Somerville (SickKids Research Institute, University of Toronto) in Ontario.
• Rapid Whole-Genome Sequencing in Acute Care Neonates and Infants led by Jacques Michaud (CHU Sainte-Justine Research Center) in Quebec.
• Implementation of Clinical Exomes in a Pre- and Peri-Natal Setting led by Karen Bedard and Victor Martinez (IWK Health Centre, Dalhousie University) in the Maritimes.

In addition to these six projects, the All for One initiative is bolstered by the All for One Policy Toolkit, to ensure ethical, equitable collection of genomic and clinical data. Furthermore, the development of a Pan-Canadian Health Data Ecosystem supports the integration of genomic- and clinically-generated data to improve patient care and fuel scientific breakthroughs.

Genome Canada continues to partner with end users and those responsible for implementation, including provinces, businesses and industry partners to ensure a smooth transition from research to bedside.