Introducere. Testarea genetică este una din cele mai importante aplicaţii ale cunoştinţelor obţinute din Proiectul Genomului Uman şi reprezintă analiza ADN-ului şi ARN-ului, proteinelor şi a unor metaboliţi umani pentru stabilirea constituţiei genetice a unor indivizi şi/sau familiilor interesate. Aceasta poate detecta bolile transmise ereditar, identifica purtătorii de mutaţii patologice, preciza diagnosticul unor boli la orice vârstă, face posibil screeningul, prognosticul şi monitoringul adecvat familial şi populaţional. Scopul lucrării. Evidenţierea indicaţiilor şi limitelor testelor genetice, precum şi metodelor şi materialelor utilizate în efectuarea acestora în laboratoarele din RM. Material şi metode. Analiza indicaţiilor şi limitelor testelor genetice prin prisma diferitor forme de testare genetică: diagnostic prenatal şi genetic preimplantaţional, screening neonatal, diagnostic de confirmare, diagnosticul purtătorilor heterozigoţi, diagnostic predictiv/presimptomatic, farmacogenetică, dactiloscopie genomică. Evaluarea aspectelor etice şi legale ca limite a testării genetice prin analiza actelor legislative din RM. Rezultate. În RM sunt înregistrate 20 centre de servicii genetice, dintre care: 1 – dactiloscopie genomică, 3 – diagnostic genetic de confirmare şi prenatal, 5 – diagnostic preimplantaţional, 3 – screening neonatal, 1 – diagnostic presimptomatic/predictiv, 1 – farmacogenetică, >20 – diagnostic boli infecţioase. Concluzii. (1) Încorporarea unei componente genetice în politica sanitară a RM devine un obiectiv valabil cu un impact important asupra sănătăţii populaţiei. (2) Implicaţiile etice şi juridice ale testelor genetice prevăzute in legislaţia RM corespund actelor internaţionale. (3) Laboratoarele din RM prezintă o perspectivă promiţătoare pentru o abordare genetică în practica medicală.

Introduction. Genetic testing is one of the most important application of obtained knowledge from the Human Genome Project and it represents the DNA, RNA, chromosomes, proteins and some human metabolites analysis in the genetic constitution establishment of some persons and/or interested families. It can detect hereditary transmited diseases, identify the pathologic mutation carriers, establish the diagnosis of some diseases during the life and permit familial and population screening, prognosis and monitoring. Objective of the study. To emphasize the indications and genetic limits as well as the methods and materials that were used in their performing in the laboratories from RM. Material and methods. The analysis of genetic testing indications and limits by different genetic testing forms: prenatal and genetic preimplantation diagnosis, neonatal screening, testing diagnosis, heterozygous carriers diagnosis, predictive/presymptomatic diagnosis, pharmacogenetics, genomic dactiloscopy. Assessment of the ethical and legal aspects as genetic testing limits by legislative acts analyzing from RM. Results. In the RM are registered 20 genetic services centers: 1 – genomic dactiloscopy, 3 – prenatal and confirmation diagnosis, 5 – preimplantation diagnosis, 3 – neonatal screening, 1 – presymptomatic/predictive diagnosis, 1 – pharmacogenetic test, >20 infectious diseases diagnosis. Conclusions. (1) Incorporation of genetic component in the health policy of the RM became a valid objective with a significant influence on health. (2) Ethical and legal implications of genetic tests provided in the RM legislation correspond to international acts. (3) Laboratories from RM represents a promising perspective for genetic approach in medical practice.

Introduction. Genetic testing is one of the most important application of obtained knowledge from the Human Genome Project and it represents the DNA, RNA, chromosomes, proteins and some human metabolites analysis in the genetic constitution establishment of some persons and/or interested families. It can detect hereditary transmited diseases, identify the pathologic mutation carriers, establish the diagnosis of some diseases during the life and permit familial and population screening, prognosis and monitoring. Objective of the study. To emphasize the indications and genetic limits as well as the methods and materials that were used in their performing in the laboratories from RM. Material and methods. The analysis of genetic testing indications and limits by different genetic testing forms: prenatal and genetic preimplantation diagnosis, neonatal screening, testing diagnosis, heterozygous carriers diagnosis, predictive/presymptomatic diagnosis, pharmacogenetics, genomic dactiloscopy. Assessment of the ethical and legal aspects as genetic testing limits by legislative acts analyzing from RM. Results. In the RM are registered 20 genetic services centers: 1 – genomic dactiloscopy, 3 – prenatal and confirmation diagnosis, 5 – preimplantation diagnosis, 3 – neonatal screening, 1 – presymptomatic/predictive diagnosis, 1 – pharmacogenetic test, >20 infectious diseases diagnosis. Conclusions. (1) Incorporation of genetic component in the health policy of the RM became a valid objective with a significant influence on health. (2) Ethical and legal implications of genetic tests provided in the RM legislation correspond to international acts. (3) Laboratories from RM represents a promising perspective for genetic approach in medical practice.

Introduction. Genetic testing is one of the most important application of obtained knowledge from the Human Genome Project and it represents the DNA, RNA, chromosomes, proteins and some human metabolites analysis in the genetic constitution establishment of some persons and/or interested families. It can detect hereditary transmited diseases, identify the pathologic mutation carriers, establish the diagnosis of some diseases during the life and permit familial and population screening, prognosis and monitoring. Objective of the study. To emphasize the indications and genetic limits as well as the methods and materials that were used in their performing in the laboratories from RM. Material and methods. The analysis of genetic testing indications and limits by different genetic testing forms: prenatal and genetic preimplantation diagnosis, neonatal screening, testing diagnosis, heterozygous carriers diagnosis, predictive/presymptomatic diagnosis, pharmacogenetics, genomic dactiloscopy. Assessment of the ethical and legal aspects as genetic testing limits by legislative acts analyzing from RM. Results. In the RM are registered 20 genetic services centers: 1 – genomic dactiloscopy, 3 – prenatal and confirmation diagnosis, 5 – preimplantation diagnosis, 3 – neonatal screening, 1 – presymptomatic/predictive diagnosis, 1 – pharmacogenetic test, >20 infectious diseases diagnosis. Conclusions. (1) Incorporation of genetic component in the health policy of the RM became a valid objective with a significant influence on health. (2) Ethical and legal implications of genetic tests provided in the RM legislation correspond to international acts. (3) Laboratories from RM represents a promising perspective for genetic approach in medical practice.