PT  - JOURNAL ARTICLE
AU  - Chaigneau, Megan
AU  - Bowman, Mackenzie
AU  - Grabell, Julie
AU  - Conboy, Megan
AU  - Johnson, Ana
AU  - Thorpe, Kevin
AU  - Guerin, Andrea
AU  - Dinchong, Rachelle
AU  - Paterson, Andrew
AU  - Good, David
AU  - Mahar, Alyson
AU  - Callum, Jeannie
AU  - Wheaton, Laura
AU  - Leung, Jennifer
AU  - Khalife, Roy
AU  - Sholzberg, Michelle
AU  - Lillicrap, David
AU  - James, Paula D
TI  - 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
AID  - 10.1136/bmjopen-2025-102041
DP  - 2025 Apr 01
TA  - BMJ Open
PG  - e102041
VI  - 15
IP  - 4
4099  - http://bmjopen.bmj.com/content/15/4/e102041.short
4100  - http://bmjopen.bmj.com/content/15/4/e102041.full
SO  - BMJ Open2025 Apr 01; 15
AB  - Introduction 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.Methods and analysis Using a multicentre randomised-controlled trial design, we will evaluate an early genomic testing strategy for the diagnosis of newly referred patients with a suspected inherited bleeding disorder. Eligible participants will be randomised to early genomic testing diagnostic pathway (intervention) or standard diagnostic pathway (control) and will be followed for a 12-month period. Patients in the control group who remain undiagnosed at study end will be offered identical early genomic testing to ensure equitable access to the intervention. The study will follow a parallel fixed design with waitlist control group and a 1:1 allocation ratio. The study will be conducted at three tertiary care centres in Ontario, Canada, with a target sample size of 212 participants. Clinical utility will be evaluated via the primary outcome of diagnostic yield, as well as the secondary outcome of time to diagnosis. Additional secondary outcomes will allow for assessment of patient impact via health-related quality of life and patient burden measures, as well as evaluation of economic impact through a cost-effectiveness analysis and budget impact analysis.Ethics and dissemination This investigator-initiated study was approved by the Queen’s University Health Sciences and Affiliated Teaching Hospitals Research Ethics Board through Clinical Trials Ontario (CTO-4909). Participant informed consent/assent is required. Findings will be disseminated through academic publications.Trial registration number ClinicalTrials.gov, NCT06736158.