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Precision Health Initiative – Rare Diseases: Clinical Implementation Projects

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Please refer to the Genomic Applications Partnership Program for details.

Revised July 5, 2018


Genome Canada has launched a national initiative for the clinical implementation of precision health, focusing on a rare disease pilot program as a foundational step. This initiative features three main components:  

  1. national rare disease cohort is envisioned to be established through the collection and sequencing of 30,000 samples from rare disease patients and their families.
  2. national platform is being set up to provide mechanisms and best practices for the collection and sharing of data, including privacy policies, informed consent and other ethical and legal frameworks.
  3. Clinical implementation will advance through working with provincial and regional centres and partners to establish clinical sites and achieve regulatory approval and accreditation.

In order to initiate this ambitious program, Genome Canada is encouraging the submission of projects to the Genomic Applications Partnership Program (GAPP) that will translate research into clinical implementation with the goal of having genome sequencing offered as a clinical genetic test within an established diagnostic and clinical care pathway for rare diseases. The other activities in the Precision Health Initiative – Rare Diseases will be advanced through other funding mechanisms.

Eligibility Criteria

  1. Applications will be required to meet the eligibility criteria for GAPP funding in general. That is, projects must:
  • develop and apply a genomics-derived tool, product or process to an opportunity or need defined by the Receptor(s);
  • focus on late stage R&D that will position the innovation for near term implementation / commercialization;
  • be co-led by an Academic and a Receptor organization in partnership, with active and necessary roles for both; and,
  • have the potential to generate significant social and/or economic benefits for Canada.

Full information on the GAPP can be found at:

  1. Furthermore, in order to be considered eligible as a Rare Diseases Clinical Implementation Project, projects must also:  
  • focus on using precision health approaches in rare diseases that are ready to be implemented in partnership with an existing publicly funded health care delivery organization (at the provincial or regional level that has the technological and organizational infrastructure needed to support the project).  The organization should have the capabilities to implement clinical and laboratory workflows; install or upgrade local informatics systems linked to a central data repository; and, validate/benchmark technology platforms.
  • analyze province specific health technology assessment data to determine the clinical utility, cost utility and cost effectiveness of genomic sequencing. 
  • commit to working with other rare disease clinical implementation projects funded through this mechanism to share best practices and harmonize data capture.
  • commit to data sharing, data standards, consents and other policies that comply with the guidelines for the overall initiative and are consistent with the principles and policies of the Global Alliance for Genomics and Health, the International Rare Diseases International Research Consortium and the FAIR Guiding Principles for scientific data management and stewardship.