Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial

What this Trial Is About

Researchers are evaluating the use of early genomic testing in patients suspected of having inherited bleeding disorders who have not received a diagnosis after initial standard testing. This study aims to find out if adding genomic testing early in the diagnostic process increases diagnosis rates, reduces time to diagnosis, and is cost-effective compared to standard testing alone. The trial will compare two groups: one receiving standard testing plus early genomic testing, and the other receiving standard testing with optional genomic testing after one year. Participants randomly assigned to the early genomic testing group will undergo genetic analysis using a panel of genes associated with rare coagulation, platelet, connective tissue, and bleeding disorders. The control group will receive the standard diagnostic evaluation but may be offered genomic testing after twelve months if still undiagnosed. This setup allows researchers to directly compare outcomes between early and delayed genomic testing. During the study, participants will be monitored for diagnostic outcomes, including the number of confirmed diagnoses within one year, time taken to reach diagnosis, patient burden, and quality of life related to health. Economic evaluations such as cost-effectiveness and budget impact will be assessed over two years. The total participation duration includes follow-up assessments to evaluate these outcomes and support understanding of the value of early genomic testing in this patient population.

Early Genomic Testing for Inherited Bleeding Disorders