{"id":2395,"date":"2019-02-01T00:00:00","date_gmt":"2019-02-01T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2395"},"modified":"2019-02-01T00:00:00","modified_gmt":"2019-02-01T00:00:00","slug":"nowe-ramy-walidacji-optymalizujace-swoistosc-i-czulosc-w-diagnostyce-opartej-na-wes","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/new-validation-framework-to-optimize-specificity-and-sensitivity-in-wes-based-diagnostics\/","title":{"rendered":"Nowe ramy walidacyjne optymalizuj\u0105ce swoisto\u015b\u0107 i czu\u0142o\u015b\u0107 w diagnostyce opartej na WES"},"content":{"rendered":"<p>CENTOGENE, firma zajmuj\u0105ca si\u0119 chorobami rzadkimi, kt\u00f3rej celem jest poprawa jako\u015bci \u017cycia pacjent\u00f3w cierpi\u0105cych na te choroby poprzez dostarczanie rozwi\u0105za\u0144 przyspieszaj\u0105cych rozw\u00f3j lek\u00f3w, opublikowa\u0142a opracowanie ramowych zasad optymalizacji czu\u0142o\u015bci i swoisto\u015bci diagnostyki opartej na sekwencjonowaniu ca\u0142ego eksomu (WES) w klinicznie heterogenicznej populacji pacjent\u00f3w z wykorzystaniem walidacji ortogonalnego sekwencjonowania Sangera.<\/p>\n<p>Chocia\u017c sekwencjonowanie nowej generacji (NGS) wyra\u017anie zast\u0119puje metod\u0119 sekwencjonowania DNA metod\u0105 Sangera nie tylko w badaniach naukowych, ale tak\u017ce w rutynowych testach diagnostyki genetycznej, badania wykaza\u0142y, \u017ce nie jest ono tak wiarygodne, jak samodzielny test genetyczny. Poniewa\u017c NGS generuje znaczn\u0105 liczb\u0119 wynik\u00f3w fa\u0142szywie dodatnich i fa\u0142szywie ujemnych, firma CENTOGENE opracowa\u0142a spos\u00f3b optymalizacji r\u00f3wnoleg\u0142ego sekwencjonowania ortogonalnego wariant\u00f3w metod\u0105 Sangera w przypadku przypadk\u00f3w granicznych. W styczniowym numerze czasopisma Genetics in Medicine z 2019 roku firma CENTOGENE przedstawi\u0142a w artykule zatytu\u0142owanym \u2018Opracowanie opartego na dowodach algorytmu optymalizuj\u0105cego czu\u0142o\u015b\u0107 i swoisto\u015b\u0107 w diagnostyce opartej na ES klinicznie heterogenicznej populacji pacjent\u00f3w\u2019 ramy, w kt\u00f3rych mo\u017cliwe jest sp\u00f3jne ocenianie i monitorowanie wariant\u00f3w NGS, co znacz\u0105co zmniejsza obci\u0105\u017cenie zwi\u0105zane z t\u0105 dodatkow\u0105 walidacj\u0105.<\/p>\n<p>Firma CENTOGENE opracowa\u0142a drzewo decyzyjne, kt\u00f3re uwzgl\u0119dnia trzy cechy charakterystyczne dla wariantu: wynik jako\u015bci, liczb\u0119 odczyt\u00f3w i cz\u0119sto\u015b\u0107 wyst\u0119powania. Dzi\u0119ki temu predyktorowi mo\u017cliwe jest sklasyfikowanie 91,7% wariant\u00f3w ze swoisto\u015bci\u0105 100% i czu\u0142o\u015bci\u0105 99,8%, pozostawiaj\u0105c jedynie 8,3% wariant\u00f3w do potwierdzenia dodatkowym sekwencjonowaniem Sangera. Ten wynik pozwala unikn\u0105\u0107 nadmiernego i niedostatecznego filtrowania wynik\u00f3w, umo\u017cliwiaj\u0105c postawienie trafniejszej diagnozy u pacjent\u00f3w cierpi\u0105cych na rzadkie choroby, kt\u00f3re w przeciwnym razie zosta\u0142yby pomini\u0119te. Implikacje tego wzrostu swoisto\u015bci i czu\u0142o\u015bci przek\u0142adaj\u0105 si\u0119 r\u00f3wnie\u017c na bardziej sp\u00f3jne mo\u017cliwo\u015bci monitorowania.<\/p>\n<p>\u201cNowe ramy, kt\u00f3re opracowali\u015bmy w celu optymalizacji czu\u0142o\u015bci i swoisto\u015bci diagnostyki opartej na WES, podkre\u015blaj\u0105 strategiczny cel CENTOGENE \u2013 transformacj\u0119 danych klinicznych i genetycznych w celu umo\u017cliwienia szybkiej diagnostyki chor\u00f3b dziedzicznych\u201d \u2013 powiedzia\u0142 profesor Peter Bauer, dr n. med., dyrektor naukowy CENTOGENE i g\u0142\u00f3wny autor badania. \u201cRamy te mo\u017cna zoptymalizowa\u0107 w przemy\u015ble, \u015brodowisku akademickim i klinice bez uszczerbku dla dok\u0142adno\u015bci diagnostyki genetycznej\u201d.\u201d<\/p>\n<p>Badanie przeprowadzono na rozleg\u0142ej, rzeczywistej populacji pacjent\u00f3w i obj\u0119\u0142o ono dane dotycz\u0105ce oko\u0142o 1000 potencjalnych wariant\u00f3w genomu. Pr\u00f3bki pacjent\u00f3w dostarczono w postaci krwi EDTA lub w postaci wysuszonych kropel krwi na kartach filtracyjnych, wykorzystuj\u0105c CentoCard\u00ae firmy CENTOGENE \u2013 globalne rozwi\u0105zanie logistyczne opracowane przez CENTOGENE w celu uproszczenia globalnego pobierania pr\u00f3bek.<\/p>","protected":false},"excerpt":{"rendered":"<p>CENTOGENE, a rare disease company committed to improving the lives of rare disease patients by providing solutions that accelerate the [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2395","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - 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