Grant: Doctoral Research Award: Canada Graduate Scholarships

The inherited bleeding disorders are a group of rare diseases characterized by abnormal bleeding symptoms, ranging from mild nuisance bleeding to life-threatening hemorrhage. The current diagnostic journey for these patients is lengthy, costly, resource intensive, and emotionally draining. Several challenges including symptom dismissal and difficulties with laboratory testing result in long delays in diagnosis (7-12 years). During this waiting time, patients report high anxiety, preventable bleeding episodes and decreased quality of life. First-line testing is effective for only 30% of new patients and testing must be done in specialist laboratories which are not always accessible to patients. Additionally, testing can be affected by things such as stress, hormones, and medication. The remaining 70% of patients will undergo many rounds of testing, requiring many hospital visits, blood draws and a high patient burden. Many patients will not be able to complete the full range of tests because of their medical situation (i.e. medications, pregnancy). Ultimately, 50% of patients will end up with no clear diagnosis and be classified as "bleeding disorder of unknown cause". A new care pathway with early genetic testing could significantly improve diagnosis, reduce delays, alleviate patient anxiety, allow for prompt symptom recognition, targeted treatment, and reduce overall healthcare costs. In this study, we will introduce a new early genomic testing pathway to see if we are able to diagnose more patients with an inherited bleeding disorder more quickly. We will also look at socioeconomic and psychological effects for patients, and evaluate if the new diagnostic pathway is cost-effective. Earlier, more accurate diagnosis would help patients get the right treatment and prevent abnormal bleeding symptoms, with additional positive effects on the quality of life and mental well-being of patients and families