biostudies-literatureChaigneau MCanadian Institute of Health Researche102041https://www.ebi.ac.uk/biostudies/studies/S-EPMC12015236biostudies-literatureUnknown15(4)<h4>Introduction</h4>The current diagnostic pathway for patients with a suspected inherited bleeding disorder is long, costly, resource intensive, emotionally draining for patients and often futile, as half of patients will remain without a diagnosis and be labelled 'bleeding disorder of unknown cause'. Advances in understanding the genetic basis of the inherited bleeding disorders, coupled with both increasing infrastructure for genetic/genomic testing and decreasing costs, have increased the feasibility of introducing genomic testing into the clinical diagnostic pathway as a potential solution to improve the care of these patients. Yet, there remain evidence gaps on the optimal integration of genomic analysis into the diagnostic pathway.<h4>Methods and analysis</h4>Using a multicentre raBMJ openGenomic testing for bleeding disorders (GT4BD): protocol for a randomised controlled trial evaluating the introduction of whole genome sequencing early in the diagnostic pathway for patients with inherited bleeding disorders as compared with standard of care.PMC12015236RDP-193724Bowman MConboy MJames PDLeung JDinchong RMahar APaterson ASholzberg MKhalife RJohnson AThorpe KGrabell JGood DLillicrap DChaigneau MGuerin AWheaton LCallum JfalseGenomic testing for bleeding disorders (GT4BD): protocol for a randomised controlled trial evaluating the introduction of whole genome sequencing early in the diagnostic pathway for patients with inherited bleeding disorders as compared with standard of care.<h4>Introduction</h4>The current diagnostic pathway for patients with a suspected inherited bleeding disorder is long, costly, resource intensive, emotionally draining for patients and often futile, as half of patients will remain without a diagnosis and be labelled 'bleeding disorder of unknown cause'. Advances in understanding the genetic basis of the inherited bleeding disorders, coupled with both increasing infrastructure for genetic/genomic testing and decreasing costs, have increased the feasibility of introducing genomic testing into the clinical diagnostic pathway as a potential solution to improve the care of these patients. Yet, there remain evidence gaps on the optimal integration of genomic analysis into the diagnostic pathway.<h4>Methods and analysis</h4>Using a multicentre ra2025-01-01T00:00:00Z2025 Apr2026-07-15T11:03:38.92Z2025-07-03T03:05:12.689ZS-EPMC120152364024655810.1136/bmjopen-2025-102041