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Pollitt, Rodney J.
Journal of Medical Biochemistry, 10/2014, Volume: 34, Issue: 1Journal Article
Newborn blood-spot screening to detect potentially treatable disorders is widely practiced across the globe. However, there are great variations in practice, both in terms of disorders covered, screening technologies, disease definition, information provision, parental informed consent, and storage and disposal of residual specimens, partly reflecting the degree to which screening is the subject of explicit legislation (and thus public and media pressure) or is embedded in a general health care system and managed at an executive level. It is generally accepted that disorders to be screened for should comply with the ten Wilson and Jungner criteria, but the way that compliance is assessed ranges from broadly-based opinion surveys to detailed analysis of quantitative data. Consequently, even countries with comparable levels of economic development and health care show large differences in the number of disorders screened for. There are several areas on which there are no generally accepted guidelines: how should parents be informed about screening and to what extent should they be encouraged to regard screening as an option to choose to refuse? Is DNA mutation analysis acceptable as part of a screening protocol? How soon should the blood samples be destroyed once screening has been completed? As technology advances and the potential scope of screening expands at both the metabolite and genome level, challenging policy issues will have to be faced. Testiranje uzoraka krvi iz pete kod novo - ro|enčadi radi otkrivanja potencijalno izlečivih bolesti pri me - njuje se širom planete. Me|utim, prakse testiranja se umnogome razlikuju, kako u pogledu poremećaja koji se mogu otkriti, tehnologija testiranja, definicije bolesti, pru `anja informacija, informisanog pristanka roditelja, tako i što se tiče čuvanja i eliminisanja preostalih uzoraka, što donekle odra - `ava u kojoj je meri ova oblast testiranja predmet za konske regulative (a time i javnog i medijskog pritiska) ili je ugra|ena u zdravstveni sistem i njom se upravlja na izvršnom nivou. U načelu je prihvaćeno da poremećaji koji se mogu otkriti testiranjem treba da ispunjavaju deset kriterijuma Wilsona i Jun - gnera, ali postoje razni načini pomoću kojih se to utvr|uje, od uopštenih anketa do detaljne analize kvantitativnih poda - taka. Usled toga, broj poremećaja obuhvaćenih testiranjem veoma se razlikuje čak i u zemljama sa uporedivim nivoima ekonomskog razvoja i zdravstvene nege. Postoji nekoliko oblasti za koje nema opšteprihvaćenih smernica: kako in - formisati roditelje o testiranju i koliko ih treba podsticati da testiranje posmatraju kao opciju koju, ako `ele, mogu odbiti? Da li je analiza DNK mutacija prihvatljiva kao deo protokola za testiranje? Koliko brzo posle završetka testiranja treba uništiti uzorke krvi? Pošto se tehnologija stalno una pre |uje a potencijalni obim testiranja se širi na nivou metabolita kao i genoma, biće potrebno suočiti se s problematičnim pitanjima vezanim za praksu testiranja.
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