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.