{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chaigneau M"],"funding":["Canadian Institute of Health Research"],"pagination":["e102041"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12015236"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(4)"],"pubmed_abstract":["<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 ra"],"journal":["BMJ open"],"pubmed_title":["Genomic 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."],"pmcid":["PMC12015236"],"funding_grant_id":["RDP-193724"],"pubmed_authors":["Bowman M","Conboy M","James PD","Leung J","Dinchong R","Mahar A","Paterson A","Sholzberg M","Khalife R","Johnson A","Thorpe K","Grabell J","Good D","Lillicrap D","Chaigneau M","Guerin A","Wheaton L","Callum J"],"additional_accession":[]},"is_claimable":false,"name":"Genomic 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.","description":"<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 ra","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-07-15T11:03:38.92Z","creation":"2025-07-03T03:05:12.689Z"},"accession":"S-EPMC12015236","cross_references":{"pubmed":["40246558"],"doi":["10.1136/bmjopen-2025-102041"]}}