Team Grant: Improving Diagnosis for Rare Disease Patients

The specific objectives of this funding opportunity are to:

• Generate high quality evidence required to optimize the RD diagnosis pathway in Canada;
• Evaluate the health outcomes associated with RDs via the ‘genomics first’ diagnosis pathway compared to the current approach (i.e., genomic testing performed later);
• Determine the economic impact to the health care system for the ‘genomics first’ diagnosis pathway and compare to current diagnostic pathways for RDs;
• Evaluate the socioeconomic and psychological impacts of delays in the diagnosis on patients/families with RDs from a diversity of population groups and communities in Canada using the ‘genomics first’ diagnostic paradigm as a comparator; and
• Mobilize knowledge to facilitate the implementation, scale and spread of best practices for diagnosing RDs in Canada.