Avtor/Urednik		Rudolf, Gorazd; Peterlin, Borut
Naslov		Uporaba DNK genetskega testa v medicini
Prevedeni naslov		Practical considerations of DNA testing in medicine
Tip		članek
Vir		Zdrav Vestn
Vol. in št.		Letnik 78, št. 2
Leto izdaje		2009
Obseg		str. 65-71
Jezik		slo
Abstrakt		Background The rapid development of genetics has brought an increasing knowledge of the molecular bases of diseases, which in turn has allowed for the development of accurate diagnostic test ‐ DNA analysis. The goal of DNA analysis in medicine is to detect genetic changes which by molecular logic is the most accurate way to confirm the presence of genetic disease. Conclusions In the article we try to highlight the complexity of the use of genetic testing, as, besides the importance of indicating the appropriate analysis, correct interpretation of any results, an understanding of the limits of testing and its specificity, there are many legal and ethical implications connected with genetic testing. It therefore follows that genetic counseling should be an integral part of the process of genetic testing. At the end of the article we describe the organization of genetic testing in Slovenia and try to give some recommendations regarding the use of genetic testing in clinical medicine.
Izvleček		Izhodišča Razvoj genetike je privedel do boljšega poznavanja molekularnih osnov bolezni in posledično do razvoja zanesljivega diagnostičnega DNK testiranja, katerega cilj je odkriti genetsko spremembo. DNK testiranje ima v medicini vse pomembnejše mesto v klinični uporabi. Zaključki V prispevku poskušamo osvetliti kompleksnost uporabe genetskega testiranja, saj je poleg racionalne/prave indikacije pomemben izbor ustreznega testa, pravilna interpretacija rezultata, poznavanje njegovih omejitev in njegovih specifičnosti ter poznavanje etičnih, legalnih in socialnih razsežnosti ob tem. Poudarimo pomembnost genetskega svetovanja, saj je genetsko svetovanje integralni del vsakega procesa genetskega testiranja. Na koncu prispevka na kratko opišemo organizacijo genetskega testiranja v Sloveniji in podamo nekaj glavnih priporočil za uporabo genetskega testiranja.
Deskriptorji		GENETIC SCREENING GENETIC COUNSELING DNA PEDIGREE HEREDITARY DISEASES PRENATAL DIAGNOSIS