Venous thromboembolism: implications for gene-based diagnosis and technology development

Venous thromboembolism is an hypercoagulable state that frequently reflects a complex interplay between inherited, acquired and environmental factors. The overall incidence of venous thromboembolism, which increases with age, is approximately 1:1000 in the US and Western Europe. In addition to known risk factors such as pregnancy and cancer, genetic variants can also increase the venous thromboembolism risk. Once such genetic variant, FV Leiden is characterized by single-point mutation and has been found in approximately 20% of idiopathic venous thromboembolism cases. The discovery of FV Leiden unleashed an increased interest in the genetics of venous thromboembolism as well as other cardiovascular diseases. Because FV Leiden was not only defined by only one common single nucleotide polymorphism but was also widely prevalent, impetus for the development of novel mutation detection methodologies and platforms for DNA analysis in both the clinical and research laboratory was greatly accelerated. An overview of this technology and its relationship to the genetics of venous thromboembolism is reviewed.