Abstract

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.

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