Molekularno-genetički markeri kao osnov za personalizovanu medicinu
Molecular genetic markers as a basis for personalized medicine
Abstract
Genetika i genomika su danas potpuno integrisane u medicinsku praksu. Personalizovana medicina, poznata i kao medicina zasnovana na genomu, koristi znanja o genetičkoj osnovi bolesti da bi se individualizovalo lečenje svakog pacijenta. Veliki broj genetičkih varijanti, molekularno-genetičkih markera, već se koristi u kliničkoj praksi za dijagnozu, prognozu i praćenje bolesti (monogenska nasledna oboljenja, fuzioni geni i rearanžmani u pedijatrijskim i adultnim leukemijama) i presimptomatsku procenu rizika od obolevanja (BRCA1/2 za kancer dojke). Osim toga, primena farmakogenomike u kliničkoj praksi značajno je doprinela individualizaciji terapije u skladu sa genotipom i profilom ekspresije gena pacijenta. Genetičko testiranje za nekoliko farmakogenomičkih markera (TPMT, UGT1A1, CYP2C9, VKORC1) obavezno je ili se preporučuje pre započinjanja terapije. Najvažniji doprinos medicine zasnovane na genomu je ciljana molekularna terapija, prilagođena genetskom profilu bolesti. Testiranje genet...ičkih varijanti u malignim oboljenjima (BCR-ABL, PML/RARa, RAS, BCL-2, KIT, PDGFR, EGF) doprinosi tačnijoj stratifikaciji različitih kancera i adekvatnom izboru terapije. Krajnji cilj medicinske nauke je da primeni gensku terapiju koja bi eliminisala uzrok bolesti ili prevenirala bolest, ciljajući genetički defekt koji leži u osnovi bolesti. Tehnologija koja prati gensku terapiju veoma se brzo razvija i već se uspešno primenjuje. Iako je medicina oduvek suštinski bila "personalizovana", prilagođena svakom pacijentu, personalizovana medicina danas koristi modernu tehnologiju i znanja iz oblasti molekularne genetike i genomike, omogućujući stepen personalizacije koji vodi ka značajnom napretku medicinske prakse.
Nowadays, genetics and genomics are fully integrated into medical practice. Personalized medicine, also called genome-based medicine, uses the knowledge of the genetic basis of disease to individualize treatment for each patient. A number of genetic variants, molecular genetic markers, are already in use in medical practice for the diagnosis, prognosis and follow-up of diseases (monogenic hereditary disorders, fusion genes and rearrangements in pediatric and adult leukemia) and presymptomatic risk assessment (BRCA 1/2 for breast cancer). Additionally, the application of pharmacogenomics in clinical practice has significantly contributed to the individualization of therapy in accordance with the patient's genotype and gene expression profile. Genetic testing for several pharmacogenomic markers (TPMT, UGT1A1, CYP2C9, VKORC1) is mandatory or recommended prior to the initiation of therapy. The most important achievement of genome-based medicine is molecular-targeted therapy, tailored to th...e genetic profile of a disease. Testing for gene variants in cancer (BCR-ABL, PML/RARa, RAS, BCL-2) is part of the recommended evaluation for different cancers, in order to achieve better management of the disease. The ultimate goal of medical science is to develop gene therapy which will fight or prevent a disease by targeting the disease-causing genetic defect. Gene therapy technology is rapidly developing, and has already been used with success. Although medicine has always been essentially "personal" to each patient, personalized medicine today uses modern technology and knowledge in the field of molecular genetics and genomics, enabling a level of personalization which leads to significant improvement in health care.
Keywords:
personalizovana medicina / molekularno-genetički markeri / molekularna dijagnostika / genska terapija / farmakogenomika / ciljana molekularna terapija / pharmacogenomics / personalized medicine / molecular-targeted therapy / molecular genetic markers / molecular diagnosis / gene therapySource:
Journal of Medical Biochemistry, 2014, 33, 1, 8-21Publisher:
- Društvo medicinskih biohemičara Srbije, Beograd i Versita
Funding / projects:
- Rare Diseases:Molecular Pathophysiology, Diagnostic and Therapeutic Modalities and Social, Ethical and Legal Aspects (RS-MESTD-Integrated and Interdisciplinary Research (IIR or III)-41004)
DOI: 10.2478/jomb-2013-0035
ISSN: 1452-8258
WoS: 000326578500003
Scopus: 2-s2.0-84904647198
Collections
Institution/Community
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Pavlović, Sonja AU - Zukić, Branka AU - Stojiljković, Maja PY - 2014 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/771 AB - Genetika i genomika su danas potpuno integrisane u medicinsku praksu. Personalizovana medicina, poznata i kao medicina zasnovana na genomu, koristi znanja o genetičkoj osnovi bolesti da bi se individualizovalo lečenje svakog pacijenta. Veliki broj genetičkih varijanti, molekularno-genetičkih markera, već se koristi u kliničkoj praksi za dijagnozu, prognozu i praćenje bolesti (monogenska nasledna oboljenja, fuzioni geni i rearanžmani u pedijatrijskim i adultnim leukemijama) i presimptomatsku procenu rizika od obolevanja (BRCA1/2 za kancer dojke). Osim toga, primena farmakogenomike u kliničkoj praksi značajno je doprinela individualizaciji terapije u skladu sa genotipom i profilom ekspresije gena pacijenta. Genetičko testiranje za nekoliko farmakogenomičkih markera (TPMT, UGT1A1, CYP2C9, VKORC1) obavezno je ili se preporučuje pre započinjanja terapije. Najvažniji doprinos medicine zasnovane na genomu je ciljana molekularna terapija, prilagođena genetskom profilu bolesti. Testiranje genetičkih varijanti u malignim oboljenjima (BCR-ABL, PML/RARa, RAS, BCL-2, KIT, PDGFR, EGF) doprinosi tačnijoj stratifikaciji različitih kancera i adekvatnom izboru terapije. Krajnji cilj medicinske nauke je da primeni gensku terapiju koja bi eliminisala uzrok bolesti ili prevenirala bolest, ciljajući genetički defekt koji leži u osnovi bolesti. Tehnologija koja prati gensku terapiju veoma se brzo razvija i već se uspešno primenjuje. Iako je medicina oduvek suštinski bila "personalizovana", prilagođena svakom pacijentu, personalizovana medicina danas koristi modernu tehnologiju i znanja iz oblasti molekularne genetike i genomike, omogućujući stepen personalizacije koji vodi ka značajnom napretku medicinske prakse. AB - Nowadays, genetics and genomics are fully integrated into medical practice. Personalized medicine, also called genome-based medicine, uses the knowledge of the genetic basis of disease to individualize treatment for each patient. A number of genetic variants, molecular genetic markers, are already in use in medical practice for the diagnosis, prognosis and follow-up of diseases (monogenic hereditary disorders, fusion genes and rearrangements in pediatric and adult leukemia) and presymptomatic risk assessment (BRCA 1/2 for breast cancer). Additionally, the application of pharmacogenomics in clinical practice has significantly contributed to the individualization of therapy in accordance with the patient's genotype and gene expression profile. Genetic testing for several pharmacogenomic markers (TPMT, UGT1A1, CYP2C9, VKORC1) is mandatory or recommended prior to the initiation of therapy. The most important achievement of genome-based medicine is molecular-targeted therapy, tailored to the genetic profile of a disease. Testing for gene variants in cancer (BCR-ABL, PML/RARa, RAS, BCL-2) is part of the recommended evaluation for different cancers, in order to achieve better management of the disease. The ultimate goal of medical science is to develop gene therapy which will fight or prevent a disease by targeting the disease-causing genetic defect. Gene therapy technology is rapidly developing, and has already been used with success. Although medicine has always been essentially "personal" to each patient, personalized medicine today uses modern technology and knowledge in the field of molecular genetics and genomics, enabling a level of personalization which leads to significant improvement in health care. PB - Društvo medicinskih biohemičara Srbije, Beograd i Versita T2 - Journal of Medical Biochemistry T1 - Molekularno-genetički markeri kao osnov za personalizovanu medicinu T1 - Molecular genetic markers as a basis for personalized medicine EP - 21 IS - 1 SP - 8 VL - 33 DO - 10.2478/jomb-2013-0035 ER -
@article{ author = "Pavlović, Sonja and Zukić, Branka and Stojiljković, Maja", year = "2014", abstract = "Genetika i genomika su danas potpuno integrisane u medicinsku praksu. Personalizovana medicina, poznata i kao medicina zasnovana na genomu, koristi znanja o genetičkoj osnovi bolesti da bi se individualizovalo lečenje svakog pacijenta. Veliki broj genetičkih varijanti, molekularno-genetičkih markera, već se koristi u kliničkoj praksi za dijagnozu, prognozu i praćenje bolesti (monogenska nasledna oboljenja, fuzioni geni i rearanžmani u pedijatrijskim i adultnim leukemijama) i presimptomatsku procenu rizika od obolevanja (BRCA1/2 za kancer dojke). Osim toga, primena farmakogenomike u kliničkoj praksi značajno je doprinela individualizaciji terapije u skladu sa genotipom i profilom ekspresije gena pacijenta. Genetičko testiranje za nekoliko farmakogenomičkih markera (TPMT, UGT1A1, CYP2C9, VKORC1) obavezno je ili se preporučuje pre započinjanja terapije. Najvažniji doprinos medicine zasnovane na genomu je ciljana molekularna terapija, prilagođena genetskom profilu bolesti. Testiranje genetičkih varijanti u malignim oboljenjima (BCR-ABL, PML/RARa, RAS, BCL-2, KIT, PDGFR, EGF) doprinosi tačnijoj stratifikaciji različitih kancera i adekvatnom izboru terapije. Krajnji cilj medicinske nauke je da primeni gensku terapiju koja bi eliminisala uzrok bolesti ili prevenirala bolest, ciljajući genetički defekt koji leži u osnovi bolesti. Tehnologija koja prati gensku terapiju veoma se brzo razvija i već se uspešno primenjuje. Iako je medicina oduvek suštinski bila "personalizovana", prilagođena svakom pacijentu, personalizovana medicina danas koristi modernu tehnologiju i znanja iz oblasti molekularne genetike i genomike, omogućujući stepen personalizacije koji vodi ka značajnom napretku medicinske prakse., Nowadays, genetics and genomics are fully integrated into medical practice. Personalized medicine, also called genome-based medicine, uses the knowledge of the genetic basis of disease to individualize treatment for each patient. A number of genetic variants, molecular genetic markers, are already in use in medical practice for the diagnosis, prognosis and follow-up of diseases (monogenic hereditary disorders, fusion genes and rearrangements in pediatric and adult leukemia) and presymptomatic risk assessment (BRCA 1/2 for breast cancer). Additionally, the application of pharmacogenomics in clinical practice has significantly contributed to the individualization of therapy in accordance with the patient's genotype and gene expression profile. Genetic testing for several pharmacogenomic markers (TPMT, UGT1A1, CYP2C9, VKORC1) is mandatory or recommended prior to the initiation of therapy. The most important achievement of genome-based medicine is molecular-targeted therapy, tailored to the genetic profile of a disease. Testing for gene variants in cancer (BCR-ABL, PML/RARa, RAS, BCL-2) is part of the recommended evaluation for different cancers, in order to achieve better management of the disease. The ultimate goal of medical science is to develop gene therapy which will fight or prevent a disease by targeting the disease-causing genetic defect. Gene therapy technology is rapidly developing, and has already been used with success. Although medicine has always been essentially "personal" to each patient, personalized medicine today uses modern technology and knowledge in the field of molecular genetics and genomics, enabling a level of personalization which leads to significant improvement in health care.", publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita", journal = "Journal of Medical Biochemistry", title = "Molekularno-genetički markeri kao osnov za personalizovanu medicinu, Molecular genetic markers as a basis for personalized medicine", pages = "21-8", number = "1", volume = "33", doi = "10.2478/jomb-2013-0035" }
Pavlović, S., Zukić, B.,& Stojiljković, M.. (2014). Molekularno-genetički markeri kao osnov za personalizovanu medicinu. in Journal of Medical Biochemistry Društvo medicinskih biohemičara Srbije, Beograd i Versita., 33(1), 8-21. https://doi.org/10.2478/jomb-2013-0035
Pavlović S, Zukić B, Stojiljković M. Molekularno-genetički markeri kao osnov za personalizovanu medicinu. in Journal of Medical Biochemistry. 2014;33(1):8-21. doi:10.2478/jomb-2013-0035 .
Pavlović, Sonja, Zukić, Branka, Stojiljković, Maja, "Molekularno-genetički markeri kao osnov za personalizovanu medicinu" in Journal of Medical Biochemistry, 33, no. 1 (2014):8-21, https://doi.org/10.2478/jomb-2013-0035 . .