An accurate and timely diagnosis for every Ontarian with a rare genetic disease.


To integrate genome-wide sequencing into the clinical care pathway for rare disease.


To deliver an equitable and sustainable genome-wide sequencing service for Ontarians through a partnership between the Ontario Ministry of Health, The Hospital for Sick Children (SickKids), CHEO, and clinical genetics centres across Ontario.


As a harmonized system for integrating genome-wide sequencing for rare disease diagnosis across Ontario, GSO has a mandate to:

  • Ensure access to high quality genome-wide sequencing for eligible patients in Ontario
  • Perform ongoing quality assurance, quality improvement, and system performance evaluations to ensure that GSO is operating effectively and meeting established standards
  • Provide educational support, information, and transparency for healthcare providers, patients, and families to aid in informed decision-making
  • Measure the effectiveness, timeliness and cost-effectiveness of a provincial genome-wide sequencing system
  • Offer patients the opportunity to participate in rare disease research