Clinical Research Directory

Observational Study of Advanced Data Analytics in Genetic Conditions

Background: The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect. Researchers have already made great strides in understanding how some genes cause disease. But they would like to have even better tools to analyze and understand genetic data. To create these new tools, they need to gather health and genetic data from a lot of people. Objective: This natural history study will gather medical information from people with genetic conditions. Eligibility: People of any age who (1) are known or suspected to have a genetic condition or (2) have a family member with a known or suspected genetic condition. Design: Participants will come to the clinic for up to 4 days. Tests to be performed will vary depending on the nature of each participant s health issue. The tests may include: Blood and saliva. Blood may be drawn from a vein; cells and saliva may be collected by rubbing the inside of the cheek with a swab. These would be used for genetic testing. Imaging scans. Participants may have X-rays or other scans of their bodies. They may lie still on a table while a machine records the images. Heart tests. Participants may lie still while a technician places a probe on their chest. They may also have stickers attached to wires placed on their chest. Photographs and recordings. Pictures may be taken of facial features, skin changes, or other effects of the genetic condition. Video and audio recordings may also be made. Some people may be able to participate via telehealth.

TRIAGE-GS: Towards Reducing Inefficiencies Affecting Genetics Encounters Through Genome Sequencing

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.