Early Genomic Testing for Inherited Bleeding Disorders

The investigators aim to test the introduction of genomic testing early in the diagnostic pathway for inherited bleeding disorders in patients who have not received a diagnosis after first-line testing. The goal of this clinical trial is to test the introduction of genomic testing early in the diagnostic pathway for patients referred to Hematology for a suspected inherited bleeding disorder. The main questions it aims to answer are: 1. Does adding early genomic testing increase the number of patients who are diagnosed? 2. Does adding early genomic testing decrease the overall time to diagnosis? 3. Is it cost-effective to include early genomic testing in the diagnostic pathway? The investigators will compare with a control group of participants who are receiving standard care (no early genomic testing). Participants will randomized to a standardized diagnostic testing plus early genomic testing group or to the standardized diagnostic testing group only (with the possibility of being offered genomic testing after 1 year in the study).

NCT Number	NCT06736158
Lead Sponsor	Queen's University Collaborators: Unity Health Toronto, The Ottawa Hospital
Conditions	Bleeding Disorder
Enrollment	212 participants
Start Date	2025-05-31
Primary Completion	2026-12-31 (estimated)
Study Completion	2027-04-30 (estimated)
Updated on ClinicalTrials.gov	2025-07-31