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 remain in the dark for too long, limited by the scope and speed of current genetic testing. The goal of this clinical trial is to learn if performing genome sequencing (a comprehensive genetic test) as soon as a rare genetic disease is suspected is more effective than usual care, where a person waits to see a genetics specialist and then typically gets offered more targeted testing. Researchers will compare a "genome-sequencing first" approach to the standard-of-care in individuals who were referred to the Genetics Clinic at either SickKids or CHEO and recently had their referral accepted by the clinic. The main questions this clinical trial aims to answer are: 1. Are there more and faster diagnoses with a "genome sequencing first" approach compared to standard-of-care? 2. What do patients, families, and healthcare providers think about a "genome sequencing first" approach compared to standard-of-care? 3. What is the financial impact of a "genome sequencing first" approach compared to standard-of-care on the healthcare system? Participants will be asked to: * Let us review their medical records. * Complete up to 5 questionnaires over the course of the study. * Give a blood sample for clinical genome sequencing (if in the genome sequencing first group). This study aims to provide the robust evidence needed to improve care pathways for rare disease diagnosis in Canada. The findings also promise to help translate new genetic technologies into the clinic. Earlier diagnosis is a key first step towards personalized care, targeted treatments, and better outcomes.
Age range
18 Years
Sex
ALL
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A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Determine the time-to-event (diagnosis or no active follow-up) of a GS-first (pre-geneticist evaluation) outpatient care model for rare disease compared to standard of care.
Timeframe: From date of randomization until the date of the disclosure of diagnosis/plan, up to 18 months.
Compare clinical utility of GS-first to standard of care from the perspectives of care teams.
Timeframe: 0-2 weeks after the first results disclosure to the participant/family.
Compare personal utility of GS-first to standard-of-care from the perspectives of patients, families, and care teams.
Timeframe: 0-2 weeks after the first results disclosure to the participant/family.
Assess cost-effectiveness as the incremental cost per additional case detected for GS-first compared to standard-of-care from a healthcare system payer perspective.
Timeframe: Overall during the study period (up to 18 months).