Genetic Conditions

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