Boycott, Kym M

Published purpose

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.