Grant: Doctoral Award - Frederick Banting and Charles Best Canada Graduate Scholarships

Rare diseases affect as many as one in twelve Canadians. Many of these individuals experience a diagnostic odyssey; they are evaluated by multiple medical professionals, but lack an accurate diagnosis and treatment plan. Rare diseases are often caused by mutations in an individual's DNA. Currently, these patients are evaluated in the Medical Genetics clinic and between one and ~50 genes which may be responsible for their clinical symptoms are tested for mutations. However, this testing is expensive and is often unsuccessful as there are over 3,500 genes currently linked to disease. New technologies have been developed which can simultaneously test every gene in the genome in a cost-efficient manner. These technologies have been highly successful in research to diagnose rare disease patients, and are now being tested for use as clinical testing. This project will evaluate the success rate and cost effectiveness of these new genome sequencing technologies for the diagnosis of rare disease patients. For patients, an accurate genetic diagnosis informs patient care and facilitates the development and use of more targeted effective treatments. Within the healthcare system, accurate diagnoses bypass the waste of health care resources on unnecessary treatments and continued diagnostic testing. Overall, establishing the effectiveness of this new technology as a diagnostic tool for rare diseases will improve the care of these patients and make better use of the limited resources within our publically funded healthcare system.