Author/Editor		Gregorič, A
Title		Predsimptomatska genetska diagnostika pri otrocih: etične dileme
Translated title		Presymptomatic genetic testing in children: ethical dilemmas
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 5, št. Suppl 2
Publication year		1998
Volume		str. 47-50
Language		slo
Abstract		The guidelines for correct proceeding in the field of presymptomatic genetic testing (predictive genetic testing) in children (and adults) are stated in the Convention for the protection of human rights and dignity of the human being with regard to the application of biology and medicine of the Council of Europe. For Slovenia as a signing state, the principles of this Convention are binding. The mentioned testing procedures are not allowed if the disease can not be delayed, mitigated or prevented. As an exception they are allowed for research purposes or in cases of family planing. When children are concerned, special regard must be paid to the princiles of free consent and substituional informed consent to treatment and research. Also the child's personal autonomy and strictly confidential data protection should be kept in mind. After the age of 12, the child's wishes should have a particular weight. In case of differences inopinion between the child and its parents, as a rule the physician should intervene on behalf of the child. More Complicated cases of presymptomatic genetic testing in children should be dealt with individually by national medical ethics committees. As example of such investigation, this paper presents the Maribor study entitled ACE/ID polymorphism as a cardiovascular risk factor in children. Abuse in the of genetics is best avoided by strict consideration of the laws based on the Convention and by suitable education of the population. The encouraging development of bioethics during the past decades fills us with optimistic thought that the good "spiritual gene", transmitted unchanged from generation to generation, will prevail in people after all.
Summary		Smernice za pravilno ukrepanje na področju predsimptomatske genetske diagnostike (napovednih genetskih preiskav) pri otrocih (in pri odraslih) so zapisane v Konvenciji Sveta Evrope o varovanju človekovih pravic in človekovega dostojanstva v zvezi z uporabo biologije in medicine. Načela Konvencije so za Slovenijo kot državo podpisnico obvezujoča. Omejnjena diagnostika ni dovoljena, če bolezni ni mogoče odložiti, omiliti ali preprečiti. Izjemoma je to dovoljeno v znanstveni namen ali če gre za načrtovanje družine. Kadar gre za otroke, je treba še posebej upoštevati načela ustrezne privolitve in nadomestnega soglasja k zdravljenju in raziskavi. Prav tako je treba vedno paziti na otrokovo osebno avtonomijo in strogo zaupno varovanje podatkov. Po dvanajstem letu naj bi imele mladostnikove želje še posebno težo. Če pride do razhajanja mnenj med starši in otroki, naj bi zdravnik načeloma zagovarjal otrokove koristi. Vsekakor pa naj bi bolj zapletene primere napovedanih genetskih preiskav pri otrocih individualno obravnavale državne komisije za medicinsko etiko.V članku je kot vzorec take raziskave prikazana mariborska študija Polimorfizem ACE/ID kot srčnožilni dejavnik tveganja pri otrocih. Zlorabam na področju genetike se bomo najbolje izognili tako, da bomo dosledno spoštovali zakone, temelječe na Konvenciji in z ustrezno vzgojo pebivalstva. Razveseljiv razoj bioetike v zadnjih desetletjih nas navdaja z optimizmom, da bopri ljudeh le prevladal dobri "duhovni gen", ki se nespremenljiv prenaša iz roda v rod.
Descriptors		ETHICS, MEDICAL GENETIC TECHNIQUES GENETIC COUNSELING ATHEROSCLEROSIS CHILD