Multigene panel for thrombophilia testing in venous thromboembolism

Area of Science:

• Genetics
• Hematology
• Molecular Biology

Background:

• Conventional inherited thrombophilia tests identify causative genetic variants in only about 40% of venous thromboembolism (VTE) patients.
• Next-generation sequencing (NGS) enables the detection of variants across numerous coagulation genes, but its clinical utility for VTE diagnosis is not well-established.

Purpose of the Study:

• To evaluate the findings from a multigene coagulation panel for VTE diagnosis.
• To assess the complementarity of this panel to conventional thrombophilia testing in clinical practice.

Main Methods:

• A retrospective analysis of 194 VTE patients tested with the Thrombosis-Hemostasis multigene (THG) panel (31 genes) between January 2019 and December 2023.
• Comparison of THG panel results with conventional thrombophilia tests.
• Analysis of patient characteristics associated with positive THG panel findings.

Main Results:

• The THG panel detected genetic variants in 63% of VTE patients, with half classified as (likely) pathogenic variants ((L)PVs).
• The panel identified (L)PVs or variants of unknown significance in 41% of patients whose results would have been missed by conventional testing.
• Genetic variants in multiple genes were found in 19% of patients.

Conclusions:

• The multigene THG panel significantly increases the detection rate of genetic thrombophilia in VTE patients compared to conventional methods.
• While the THG panel offers broader insights into VTE-related genetic predispositions, its direct impact on patient management warrants further clinical investigation.