Naslov
Application of Molecular Diagnostics in Clinical Practice

Autori
Glavaš-Obrovac, Ljubica

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
40 YEARS OF NUCLEAR MEDICINE IN OSIJEK, Scientific Symphosium with international participation / Mihaljević, Ivan - Osijek, 2007

Skup
40 godina nuklearne medicine u Osijeku, Znanstveni simpozij s međunarodnim sudjelovanjem. 40 YEARS OF NUCLEAR MEDICINE IN OSIJEK, Scientific Symphosium with international participation

Mjesto i datum
Osijek, Hrvatska, 15.11.2007. - 17.11.2007

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
molecular diagnostics; clinical practice

Sažetak
Molecular biologic discoveries have great implications for disease prevention, detection, and targeted therapy. The deciphering of the human genome sequence, together with the expansion of our knowledge on the molecular basis of human inherited disorders, as well as successive development of diverse high-throughput analytical approaches, have enabled implementation of acquired knowledge in clinical praxis. Currently, molecular diagnostics is an important part of the mainstream healthcare worldwide in diagnostics and treatment of diseases. Almost all clinical centers in developed countries have a molecular diagnostic unit or department. By molecular diagnostics methods, or molecular genetic testing, is facilitated the detection and characterization of disease, monitoring of the drug response, as well as the identification of genetic modifiers and disease susceptibility. A wide range of molecular based test is available to assess DNA variation and changes in gene expression. Genotyping can be done using different approaches, diverse amplification-based technologies, various means for labeling (radioactive, fluorescent, chemiluminescent, or enzymatic substances), and different separation techniques (such as blotting, capillary electrophoresis, microarrays, and mass spectroscopy). The use of polymerase chain reaction - PCR in molecular diagnostics is considered as the gold standard for nucleic acid detecting. Real time PCR has engendered wider acceptance of the PCR due to its improved rapidly sensitivity, and reproducibility. The chromatographic detection of polymorphic changes of disease-causing mutations using denaturing high performance liquid chromatography is one of the new approaches in molecular diagnostics. The DNA microarray-based genotyping approach offers simultaneous analysis of many polymorphisms and sequence alteration. In recent years, there has been a significant development of proteomics and useful repertoire of proteomic techniques, which has the potential to become an indispensable tool for molecular diagnostics. In addition, robust and high throughput mass spectrometry as well as protein microarray using auto-antigen arrays should be methods of choice assessing protein expression profiles in cancer and autoimmune population. Molecular diagnostics are sensitive prognostic tools but not specific to predict the treatment outcome of the disease. Though the specificity could be improved by combining these tools with other molecular markers, yet the sensitivity of the molecular diagnostics would be altered. In vivo molecular imaging agents are able to provide cellular and molecular information. Positron emission tomography - PET is a good example of imaging technique that produces images of biochemical and physiologic processes in tissues by radiotracers using. Although in recent years the molecular diagnostics has increasingly gained interest, genetic tests are still not generally used for population screening, but rather disease diagnosis, carrier screening, prenatal diagnosis, and on limited basis only. For that reason, the ultimate goal in healthcare over the next decade will be the efficient integration of molecular diagnostics with therapeutics.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti

POVEZANOST RADA