Genome sequencing may be offered to you if you participate in this study.
The standard or usual process when someone is referred to the Genetics Clinic is for them to wait for an appointment with a medical geneticist (a genetics doctor). When the genetics doctor meets the patient, they decide what genetic (or other) tests to do. Typically, the genetic test(s) that the genetics doctor orders is/are targeted for specific types of genetic variants or specific genetic conditions. Sometimes, multiple genetic tests are done before a diagnosis is found.
Genome sequencing is a type of genetic test used to find multiple different types of genetic variants. Genome sequencing allows us to take a detailed look at a person’s entire genome (all their genetic material). Genome sequencing can be performed in Ontario through Genome-wide Sequencing Ontario (GSO) but is not yet available for most people in Ontario.
In this study, half of the participants will go through the standard or usual process in Genetics Clinic, where they will wait to meet with a genetics doctor before any genetic tests are ordered. The other half of the participants will undergo genome sequencing through GSO while they are still waiting for their appointment with a genetics doctor.
At the end of the study, participants that have not already had genome sequencing and do not yet have a genetic diagnosis will be offered genome sequencing through GSO.