CHEO and SickKids are two paediatric hospitals in Ontario. Each site has been assigned a catchment area defined by the location of the ordering provider. While each site accepts samples independently, this program is a full collaboration between the two GSO sites; the analytical, interpretation and reporting protocols were developed in collaboration and are harmonized across both sites to ensure consistency across the province.
Clinical whole exome sequencing (WES) will be available to Ontarians who meet the eligibility criteria previously defined by the Ontario Ministry of Health (MOH). Additionally, some patients from CHEO and SickKids will be randomized to receive WES or whole genome sequencing (WGS), allowing for a comparative analysis of the two testing strategies.