Much change is anticipated in the area of coagulation testing. The "uncoding" of the human genome will continue to provide an important amount of information that will likely affect the diagnostic approach to various diseases, including coagulation disorders. Currently, most of the applications of molecular diagnostics in coagulation have been confined to the analysis of one gene and its corresponding mutation or polymorphism. New technology based on DNA microchips, in which different genes could be looked at simultaneously, might provide a more complete genetic profile of coagulation disorders.
The role of molecular diagnostics for the hemophilias might extend beyond carrier detection and prenatal diagnosis; the identification of specific subgroups of hemophiliac patients with distinct clinical syndromes might be clinically relevant. Likewise, the use of molecular diagnostics in Von Willebrand disease is currently limited and remains fertile ground for potential applicability of routine molecular genetic testing for the diagnosis and subclassification of this disorder.
Molecular diagnostics in thrombophilia work-up will continue to expand. A gene panel in which patterns of multiple genes are evaluated could provide a more complete assessment of thrombotic risk in a given patient compared to analysis of one or two individual gene defects. Multigene platforms such as DNA microchips may become available for evaluation of thrombophilia.
Furthermore, many genes have shown a highly heterogeneous mix of mutations for which testing by the traditional methods is difficult, expensive, and sometimes inconclusive. Protein C deficiency is known to be associated with more than 100 mutations; it is conceivable that in a gene chip all known mutations could be tested. Identifying a specific type of mutation might correlate with the severity of the disease. Likewise, determining which genetic risk factor an individual patient has inherited might also be clinically relevant.
However, whether analysis of an entire set of expressed genes offers another diagnostic perspective for disorders of hemostasis and thrombosis and allows for a more complete classification of coagulation disorders remains to be determined. Meanwhile, automation of DNA technology along with combination of multiple genetic markers in a single assay will continue to reduce the costs of molecular tests and make a strong case for PCR-based and non-PCR-based molecular assays to replace many traditional coagulation tests.
In light of the increasing number of genetic mutations and polymorphisms being described in coagulation disorders, the challenge for the coagulation and molecular diagnostics laboratory together will be to determine what test(s) to offer and how to best test for these defects in a manner relevant to patient care.
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