engleski

Molecular diagnostics: challenges and possibilities

Modern laboratory diagnostics is characterized by a number of processes, like computerization and robotization, significant development of point-of-care testing (POCT) and molecular diagnostics, application of small amounts of sample (microsampling) and increasingly short turnaround time. Molecular diagnosis and POCT are two segments of laboratory medicine that allow individualized medical approach and high quality of treatment, but also reduce the possibility for diagnostic errors and turnaround time and costs. The quality of laboratory tests is to be implemented at European level by standardization of methods, coordination of activities related to ISO standards, and harmonization of accreditation standards. The application of new technologies in molecular analysis (from PCR to Biochip) allows the diagnosis of an entire range of conditions and diseases, including blood groups, HIV and hepatitis, HLA-typing, prenatal and early diagnosis of hereditary monogenic and polygenic diseases, analysis of tumor markers, diagnosis of infective diseases, hemato-oncologic and coagulation diagnosis and pharmacogenetics. Interindividual differences regarding efficacy and toxicity of pharmacotherapy are often based on genetic variabilities of metabolic enzymes, transport proteins and receptors. Pharmacogenetic analysis may contribute to therapy individualization and optimization. At the end of 2004, AmpliChip CYP450 was approved for use and thus contributed to effective application of various medications. Microsampling, individual approach and possibility of early molecular diagnostics may together contribute to high quality healthcare and reduced therapy costs.

molecular diagnostics; hemato-oncology; pharmacogenetics; monogenic and polygenic diseases

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