Genome-First approach could end the diagnostic odyssey for kids with rare diseases
NCT ID NCT06935019
First seen Apr 30, 2026 · Last updated May 24, 2026 · Updated 4 times
Summary
This study compares doing comprehensive genome sequencing right away versus waiting for a genetics specialist and standard tests in 200 children with suspected rare genetic diseases. The goal is to see if the genome-first approach leads to faster and more accurate diagnoses. Participants will provide blood samples and complete questionnaires to help researchers understand the benefits, costs, and experiences of this new testing strategy.
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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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Genom att skicka in godkänner du våra Användarvillkor
Contacts and locations
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Genom att skicka in godkänner du våra Användarvillkor
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
Conditions
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