Dudziro yeMabhuku
Ongororo ichangobva kuitwa pamusoro pekuitwa kwekuongororwa kwemishonga inorapa magenetiki (PGx) muItaly, yakaburitswa muEuropean Journal of Human Genetics, inotsanangura zvakarongeka kugoverwa kwemasevhisi ekuongororwa kwePGx, mashandisirwo ehunyanzvi, kuiswa kwekiriniki, mutsauko wenzvimbo, nematambudziko aripo muItaly, zvichipa humbowo hwakavakirwa pahumbowo hwekusimudzirwa kwakajairika kwemishonga inorapa magenetiki muItaly nedzimwe nyika dzeEurope.
I. Mavambo uye Chinangwa
Parizvino, kushandiswa kwetekinoroji yePGx muItaly kwakaparara, pasina kubatana kwakabatana munyika uye nzira yekuzivana. Kuti vajekese mamiriro ekuyedza mishonga munyika, timu yekutsvagisa yakaita ongororo yerabhoritari yenyika yese kubva muna Ndira kusvika Gumiguru 2025. Zvinangwa zvikuru zvaive:
-Kugadzira mepu yekugoverwa uye mepu yebasa remarabhoritari ekuongorora pharmacogenetic muItaly;
-Kujekesa mashandiro ekuedza, mapaneru ejini, nzira dzehunyanzvi, uye mwero wekududzira;
-Kuratidza musiyano wematunhu uye zvipingamupinyi zvekushandisa, kupa rutsigiro rwedata rekugadzirisa mamiriro epasi rose.
II. Mhedzisiro Yakakosha
Hunhu hwekutanga hwemarabhoritari
Hunhu hwesangano: Masangano makumi mana nemapfumbamwe akapinda, ayo 82% aive masangano ehurumende uye 18% chete aive ega.
-Madhipatimendi anoita basa: Madhipatimendi ezvemajini ekurapa ndiwo aive nechikamu chikuru (39%), achiteverwa nemadhipatimendi ezvirwere zvepfungwa nemakemikari emuviri (18%), uye madhipatimendi emishonga yekurapa (12%).
Kuedza mashandisirwo uye zvinangwa zvemajini
Mamiriro ezvinhu makuru ekushandisa:Kuongororwa kwePGx muItaly kwakanyatso shandiswa pakuongorora oncology. 94% (marabhoritari makumi mana nematanhatu) vakaedza dihydropyrimidine dehydrogenase gene (DPYD) ine chekuita nekushandiswa kwefluoropyrimidine, uye 84% (marabhoritari makumi mana nerimwe) vakaedza uridine diphosphate glucuronosyltransferase 1A1 gene (UGT1A1) ine chekuita nekushandiswa kweirinotecan.
Mimwe miedzo:Marabhoritari aiita bvunzo dzemajini ane chekuita neazathioprine, clopidogrel, warfarin, nezvimwewo. (TPMT, CYP2C19, CYP2C9, VKORC1, nezvimwewo) aisawanzoitika.
Tekinoroji uye kutevedzera mitemo
Maitiro ekuyedza: 100% yeDPYD uye 97% yebvunzo dzeUGT1A1 dzaive bvunzo dzisati dzaitwa kurapwa; CYP2C19 neHLA B dzaive bvunzo dzisati dzaitwa kurapwa; CYP2D6 bvunzo dzaive dzakawanda dzichiitwa mushure mekunge paitika zviratidzo zvisina kunaka.
Nzira dzehunyanzvi:Nzira yekuongorora chirwere che "Real time PCR" ndiyo yainyanya kushandiswa; NGS ndiyo yainyanya kushandiswa kuona jini reHLA B; pakati pemasangano akapa mhinduro, rabhoritari imwe chete ndiyo yakashandisa whole exome sequencing (WES).
Kutevedzera kwakajairika:Chikamu chikuru chemarabhoritari chakatevedzera gwara reItalian Society of Pharmacology/Italian Association of Medical Oncology (SIF/AIOM) pamwe negwara reClinical Pharmacogenetics Implementation Consortium (CPIC)/Dutch Pharmacogenetics Working Group (DPWG).
Dudziro yemhedzisiro uye kubvunzana
Kusaina mushumo:65% yemishumo yekuyedzwa yakasainwa nenyanzvi dzezvemajini, 31% nenyanzvi dzezvezvirwere zvemakiriniki/zvemakemikari emuviri.
Dudziro yekiriniki: 90% yemarabhoritari yakapa tsananguro, 73% yakaratidza njodzi yekukuvadzwa/kusashanda zvakanaka, asi 24% chete ndiyo yakapa mazano chaiwo ekushandisa mishonga.
Kubvunzana nezvemishonga:29% chete yemarabhoritari ndiyo yaipa mazano ekurapa nekurapa, uye aya aingowanikwa chete nemadhipatimendi ekurapa nekurapa - madhipatimendi ezvemajini nezvirwere akapa mashoma kwazvo.
Kubvumirana kwakanyatsojekeswa:73% yemarabhoritari akaisa mvumo chaiyo kana kuti yakajairika yekushandiswa kwemishonga.
Kugoverwa kwematunhu:Basa rekuyedza raive rakanyanya kupararira kuchamhembe kweItaly. Pakati pemarabhoritari ane huwandu hwebvunzo dzegore negore dzinopfuura 200, 23 aive kuchamhembe, 4 pakati, uye 6 kumaodzanyemba nezvitsuwa - kugoverwa kwenzvimbo dzekuyedza kwakaenzana zvakanyanya.
Vhoriyamu yekuedza:69% yemarabhoritari yaive nehuwandu hwebvunzo dzegore negore dzinopfuura 200, 19% yaive ne100 200.
Mutemo wekudzoserwa kwemari:Pakati pemarabhoritari akaongororwa, 73% yakagamuchira mari yese kubva kuNational Health System (NHS), 22% yemubhadharo wechikamu, uye 4% hapana mubhadharo. Mitemo yemubhadharo wedunhu yakanga isingaenderane. Parizvino, Italy haina kodhi chaiyo yekubhadhara/kudzoserwa kwemari yekuyedza mishonga, zvichikonzera kuvhiringidzika kukuru mukushandiswa kwayo munzvimbo dzakasiyana.
III. Kukurukurirana uye Mhedziso Dzakakosha
Nzvimbo inotungamira ye oncology– Kuongororwa kweDPYD neUGT1A1 kwakapararira nekuda kwekusimudzirwa kwemitemo kubva kuEuropean Medicines Agency (EMA) neItalian Medicines Agency (AIFA). Zvisinei, kushandiswa kwekuyedzwa kwemishonga munzvimbo dzisiri dzekenza hakuna kukwana zvachose.
Tekinoroji isina kufanana uye dudziro- Hapana mwero wakabatana wekuongorora mapaneru, ma reagents, maturusi e bioinformatics, kana nzira dzekududzira, zvichiita kuti mhedzisiro isakwanise kuenzaniswa zvakanaka.
Kushanda pamwe chete kwenyanzvi dzakasiyana-siyana kusina kukwana- Kusabatanidzwa kwakawanda kwenyanzvi dzemishonga uye kusawana rubatsiro rwakakwana rwekubvunzana nezvemishonga yekiriniki.
Kusawirirana kwakakosha kwenzvimbo- Zvishandiso zvekuyedza zvePGx zvinonyanya kuwanikwa muzvipatara zvekuchamhembe, zviine zviwanikwa zvishoma munzvimbo dzepakati nedzekuchamhembe - kushomeka kwemari.
Rutsigiro rwemitemo rusina kusimba- Italy haina hurongwa hwakabatana hwenyika hwekuyedzwa kwemishonga, zvichikonzera hurongwa hwakakwana hwekubhadharwa mari, mitemo, kudzidziswa, nezvimwewo.
Pfupiso
Chidzidzo ichi ndicho chekutanga munyika yese chekuongorora mamiriro ekushandiswa kwemishonga muItaly. Chinosimbisa kuti mishonga muItaly yakatanga kushandiswa mumunda wekenza, asi zvakazara haina kupatsanurwa, haina kuenzana, haina kufanana munharaunda, uye haina kubatana nedzimwe nzvimbo dzakawanda. Nokudaro, kugadzira hurongwa hwekudyidzana kwenyika, kubatanidza tekinoroji nekududzira, uye kuvandudza marongero nekudzidziswa ndizvo zvinodiwa neItaly mune ramangwana kuti iwane kushandiswa kwakajairika kwekuyedzwa kwemishonga mukurapa, zvichipa humbowo hwakakosha kune dzimwe nyika dzeEurope.
Macro & Micro-Test'sMhinduro Yese Yekushandisa Otomatiki yePharmacogenomics
-Zviri nyore: Kurodha sampuro nemachubhu ekutanga, kiyi imwe chete, otomatiki yesampuro kubva kumhedzisiro, kubatanidzwa zvakanaka neLIS/HIS.
-Kukurumidza: Mhedzisiro inowanikwa muinenge awa imwe chete yemaitiro ese, ichitungamira chaizvo nzira dzekurapa dzakagadzirirwa iwe pachako.
-Inochinjika: Nepuratifomu yeHWTS AIO800, kuyedzwa kwePGx hakuchaganhurwi nezvirambidzo zvesaiti - zvinochinjika uye zvinochinjika.
-Zvakakwana: Matrix yezvigadzirwa zvakawanda zvinofukidza zvirwere zvemwoyo netsinga dzeropa, zvirwere zvepfungwa, kurapwa kwekenza, kuberekwa, gynaecology & kubereka, nedzimwe nzvimbo.
-Kuenderana:Inoongorora zvizere zveNucleic Acid Amplification Analyzer HWTS AIO800 uye masisitimu ePCR enguva chaiyo.
Chinyorwa Chekuwedzera:ZvakafananaZvirwerees, Mishonga Yakabatana, uye Zvinangwa Zvinoenderana Nekuongororwa Kwemajini
Nguva yekutumira: Chivabvu-11-2026