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The human genome project has attracted a great deal of attention in recent years among the general public as well as the scientific community. Although it is likely to be a number of years before many of the expected benefits of the genomics revolution are realized, the impact of these scientific breakthroughs on medicine is likely to become apparent quickly and will transform the entire scene within a generation. Recent advances in genomic and proteomic technologies open up new avenues in the diagnoses and management of human diseases, and the application of these techniques may initiate a paradigm shift in clinical medicine. Initially, polymerase chain reaction tests were performed only in highly specialized or research laboratories. Presently, routine molecular assays are widely performed in virtually all sections and specialties of the traditional clinical laboratory, including oncology, hematology, immunology, and blood transfusion. Evolving techniques of nucleic acid and protein microarrays may follow a similar path to the clinician in the hospital. In human genetics, molecular techniques have brought forth new procedures for increasingly specific, sensitive, fast, simple, reliable, automatable, and cost-effective diagnostic and predictive DNA analysis. All of these modern nucleic acid technologies have significantly simplified the routine assessment of patients in the genetics clinic. For instance, advances in molecular biology and in genomics have made possible the early identification of persons at increased risk of, e.g., a thrombophilic state, developing certain forms of cancer, or degenerating neurological disorders.
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