Status:
ENROLLING_BY_INVITATION
TRIAGE-GS: Towards Reducing Inefficiencies Affecting Genetics Encounters Through Genome Sequencing
Lead Sponsor:
The Hospital for Sick Children
Collaborating Sponsors:
Children's Hospital of Eastern Ontario
Toronto Metropolitan University
Conditions:
Genetic Conditions
Eligibility:
All Genders
Up to 18 years
Phase:
NA
Brief Summary
Individually rare genetic diseases are collectively common, and affect many Canadian families. Making the right diagnosis is both important and challenging. Healthcare providers and families often rem...
Detailed Description
This is a multi-centre, prospective, interventional, open randomized controlled trial that compares patient outcomes generated by clinical whole genome sequencing (GS) initiated at time of referral tr...
Eligibility Criteria
Inclusion
- Referral accepted to the Genetics Clinic at SickKids or CHEO within 7 days of screening for study eligibility.
- Referral is for a patient that is ≤18 years old.
- Reason for referral is a suspected but as-yet-undiagnosed RD
- A genetic aetiology is a possible explanation for the phenotype such that genetic testing is likely to be offered in Genetics Clinic, as determined by the research team.
Exclusion
- Patient has a known or suspected clinical diagnosis using established criteria of a genetic condition with low locus heterogeneity (e.g., HHT, fCCM, NF1, TSC, others)
- Referral considered "Urgent" using established site criteria.
- Genome-wide sequencing (exome sequencing or GS) or a comprehensive panel that encompasses all genes relevant for the reported phenotype previously completed on a clinical or research basis.
- Patient or family member previously assessed by a medical geneticist within the last 2 years for the same phenotype(s).
- Patient lacks Ontario Health Insurance Plan (OHIP) or comparable coverage (as this will limit options for standard genetic testing).
- Referral is solely to facilitate familial variant testing or for genetic counselling.
- A family member is already enrolled in the study and was referred for the same indication.
- Patient/family does not provide informed consent to participate within 2 weeks of being approached.
Key Trial Info
Start Date :
May 14 2025
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
May 1 2028
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT06935019
Start Date
May 14 2025
End Date
May 1 2028
Last Update
July 11 2025
Active Locations (2)
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1
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada, K1H 5B2
2
The Hospital for Sick Children
Toronto, Ontario, Canada, M5G 0A4