Brz razvoj genetike kao znanosti pridonio je boljem poznavanju molekularnih osnova bolesti, što je omogućilo razvoj pouzdane dijagnostičke metode – DNA testiranja. Cilj je DNA testiranja otkriti genetičku promjenu – mutaciju, koja je po molekularnoj logici bolesti metoda izbora u dijagnostici genetički uvjetovanih bolesti. Nužno je poznavati kompleksnosti upotrebe genetičkog testiranja, jer je osim racionalne indikacije važan i izbor odgovarajućeg testa, pravilna
interpretacija rezultata, poznavanje njegovih ograničenja, specifičnosti te poznavanje etičkih, legalnih i socijalnih implikacija. Genetičko savjetovanje stoga treba biti integralni dio svakog
procesa genetičkog testiranja.The rapid development of genetics as a science has brought with it an increasing knowledge of the molecular bases of diseases, which in turn has allowed the development of better and more accurate diagnostic test – DNA analysis. The goal of DNA analysis in medicine is to detect genetic changes (mutations) which, by molecular logic, is the most accurate way to confirm the presence of genetic disease. It is important to understand the complexity of the use of genetic testing as there are (besides the importance of indicating the appropriate analysis, correct interpretation of any results, an understanding of the limits of testing and its specifity) 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
