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The genomes of many organisms, including humans, are now largely known. In the wake of this there is a need to identify and measure all proteins that are encoded by the genome (proteomics). This need leads to turbulent developments in the area of analytical techniques, such as two-dimensional electrophoresis, mass spectrometry, and protein chips. The rapidity of advancements justifies the expectation that in the next 5-10 years it will indeed become possible to determine the proteome of an organism or its components such as plasma, serum, or tissues. In combination with information on initiation and progress of disease, proteomics will contribute to improving health and to better primary and secondary prevention.

Venous thromboembolic disease is an important clinical entity, in which both acquired and genetic risk factors play a causative role. Genetic factors which increase thrombotic risk consist of rare heterogeneous loss-of-function mutations in coagulation-inhibitory factors, such as antithrombin, protein S and C, and more common, but unique, gain-of-function mutations in coagulation factors V and II, so-called factor V-Leiden and prothrombin 20210A. The genetic defect underlying factor V-Leiden is a guanine (G) to adenine (A) mutation in the factor V gene, causing substitution of arginine at position 506 by glutamine, thereby providing resistance to proteolytic cleavage by activated protein C (APC). In the prothrombin 20210A allele a G to A mutation at nucleotide 20210 in the 3'-untranslated region of the prothrombin gene is associated with increased prothrombin levels. The APC-resistance assay is used to screen for the presence of factor V-Leiden. Both factor V-Leiden and prothrombin 20210A are diagnosed by DNA analysis.