Overview
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:
- Does adding early genomic testing increase the number of patients who are diagnosed?
- Does adding early genomic testing decrease the overall time to diagnosis?
- 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).
Description
With the current standardized diagnostic testing process up to 50% of people referred with significant bleeding symptoms will be classified as bleeding disorder of unknown cause (BDUC), defined as those with a positive bleeding score but in whom all current diagnostic test results are repeatedly normal. Incorporating genomic testing early in the diagnostic pathway could significantly improve diagnostic yield, reduce diagnostic delay, alleviate patient anxiety, and allow for more prompt symptom recognition and targeted treatment.
Eligibility
Inclusion Criteria:
- New patient referred for abnormal bleeding.
- Hemostasis expert clinician determined abnormal bleeding history AND family history of bleeding
- OR no family history of bleeding but hemostasis expert clinician determined severe bleeding history.
Exclusion Criteria:
- Prior diagnosis of an inherited bleeding disorder.
- Acquired cause of bleeding (i.e., medication known to cause bleeding, significant renal or hepatic disease)