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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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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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
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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