Genome-First approach could speed up rare disease diagnoses for kids
NCT ID NCT06935019
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study compares doing a full genome sequencing test as soon as a rare genetic disease is suspected (genomics-first) versus the usual process of waiting to see a specialist first. About 200 children referred to genetics clinics at SickKids or CHEO will take part. Researchers want to see if the genomics-first approach leads to more and faster diagnoses, and if it is cost-effective.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Children's Hospital of Eastern Ontario
Ottawa, Ontario, K1H 5B2, Canada
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The Hospital for Sick Children
Toronto, Ontario, M5G 0A4, Canada
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