Genome-wide Sequencing Ontario: A pilot implementation for rare disease diagnostics is a two-year pilot project that has been co-developed by the Ontario Ministry of Health (MOH), The Hospital for Sick Children (SickKids), and CHEO, to offer clinical genome-wide sequencing (GWS) in Ontario. This project is supported by funding from the MOH.

Over a two-year period starting April 1, 2021, the GSO pilot project will deliver clinical-grade GWS to Ontario patients suspected of having a genetic condition. The pilot project will be used to inform the MOH’s decisions on establishing this service in Ontario long-term.

Genome-Wide Sequencing

Genome-wide sequencing (GWS) includes whole exome (WES) and whole genome sequencing (WGS). This type of analysis provides broad detection and evaluation of genetic variants. WES and WGS are currently the most comprehensive genetic tests available and are used to identify underlying genetic causes for conditions where traditional approaches have failed to find a diagnosis.

GWS can be offered to eligible patients suspected of having a genetic disorder. Obtaining a genetic diagnosis can improve patient health and family well-being by enabling informed care/treatment, providing emotional relief and closure, allowing for accurate recurrence risk counselling, and ending a diagnostic odyssey.