Kev Txhais Lus Txog Kev Sau Ntawv
Tsis ntev los no, kev tshawb fawb txog kev siv tshuaj pharmacogenetic (PGx) hauv Ltalis, luam tawm hauv European Journal of Human Genetics, piav qhia txog kev faib cov kev pabcuam kuaj PGx, kev siv tshuab, kev siv kho mob, kev sib txawv hauv cheeb tsam, thiab cov teeb meem tam sim no hauv Ltalis, muab cov pov thawj raws li lub hauv paus rau kev txhawb nqa tus qauv ntawm pharmacogenetics hauv Ltalis thiab lwm lub tebchaws European.
I. Keeb Kwm thiab Lub Hom Phiaj
Tam sim no, kev siv tshuab PGx hauv Ltalis yog fragmented, tsis muaj kev sib koom tes hauv tebchaws thiab kev lees paub sib koom tes. Txhawm rau kom meej meej txog lub tebchaws cov kev sim tshuaj pharmacogenetic, pab pawg tshawb fawb tau ua kev tshawb fawb hauv chaw kuaj mob thoob tebchaws txij lub Ib Hlis mus txog Lub Kaum Hli 2025. Lub hom phiaj tseem ceeb yog:
-Txhawm rau daim ntawv qhia kev faib khoom thiab kev pabcuam ntawm cov chaw kuaj mob pharmacogenetic hauv Ltalis;
-Txhawm rau kom meej txog cov txheej txheem kev sim, cov vaj huam sib luag gene, cov txheej txheem kev siv tshuab, thiab cov qauv txhais lus;
-Txhawm rau qhia txog qhov sib txawv ntawm cheeb tsam thiab cov teeb meem kev siv, muab kev txhawb nqa cov ntaub ntawv rau kev ua tus qauv hauv tebchaws.
II. Cov Txiaj Ntsig Tseem Ceeb
Cov yam ntxwv tseem ceeb ntawm cov chaw kuaj mob
Tus cwj pwm ntawm lub koom haum: Muaj 49 lub koom haum koom nrog, uas 82% yog cov koom haum pej xeem thiab tsuas yog 18% yog cov koom haum ntiag tug.
-Cov chav ua haujlwm: Cov chav kho mob caj ces suav nrog feem pua ntau tshaj plaws (39%), ua raws li cov chav kho mob pathology thiab biochemistry (18%), thiab cov chav kho mob pharmacology (12%).
Kev sim cov ntawv thov thiab cov hom phiaj gene
Cov xwm txheej tseem ceeb ntawm daim ntawv thov:Kev kuaj PGx hauv Ltalis muaj ntau yam hauv kev kho mob qog nqaij hlav. 94% (46 lub chaw kuaj mob) tau ua kev kuaj dihydropyrimidine dehydrogenase gene (DPYD) ntsig txog kev siv fluoropyrimidine, thiab 84% (41 lub chaw kuaj mob) tau ua kev kuaj uridine diphosphate glucuronosyltransferase 1A1 gene (UGT1A1) ntsig txog kev siv irinotecan.
Lwm yam kev ntsuam xyuas:Cov chaw kuaj mob uas ua kev kuaj rau cov noob caj noob ces uas cuam tshuam nrog azathioprine, clopidogrel, warfarin, thiab lwm yam (TPMT, CYP2C19, CYP2C9, VKORC1, thiab lwm yam) tsis tshua muaj.
Kev siv tshuab thiab kev ua raws li tus qauv
Txoj kev sim: 100% ntawm DPYD thiab 97% ntawm UGT1A1 kev ntsuam xyuas yog kev ntsuam xyuas ua ntej kev kho mob; CYP2C19 thiab HLA B feem ntau yog kev ntsuam xyuas semi preemptive; CYP2D6 kev ntsuam xyuas feem ntau yog reactive, ua tom qab muaj kev tsis haum tshuaj tshwm sim.
Cov txheej txheem kev txawj ntse:PCR lub sijhawm tiag tiag yog txoj kev siv ntau tshaj plaws; NGS feem ntau yog siv los ntes cov noob HLA B; ntawm cov tsev kawm ntawv uas tau tshaj tawm cov txiaj ntsig, tsuas yog ib lub chaw kuaj mob siv tag nrho cov exome sequencing (WES).
Kev ua raws li tus qauv:Muaj ntau lub chaw soj nstuam ua raws li Italian Society of Pharmacology/Italian Association of Medical Oncology (SIF/AIOM) cov lus qhia thiab Clinical Pharmacogenetics Implementation Consortium (CPIC)/Dutch Pharmacogenetics Working Group (DPWG) cov lus qhia.
Kev txhais lus thiab kev sab laj txog cov txiaj ntsig
Daim ntawv qhia txog kev kos npe:65% ntawm cov ntawv qhia kev kuaj tau kos npe los ntawm cov kws tshwj xeeb txog noob caj noob ces, 31% los ntawm cov kws tshwj xeeb txog kev mob nkeeg/kev tshawb fawb txog tsiaj txhu.
Kev txhais lus kho mob: 90% ntawm cov chaw kuaj mob tau muab kev txhais lus, 73% qhia txog kev pheej hmoo ntawm kev lom / tsis muaj txiaj ntsig, tab sis tsuas yog 24% tau muab cov lus qhia tshwj xeeb txog kev noj tshuaj.
Kev sab laj txog kev siv tshuaj:Tsuas yog 29% ntawm cov chaw soj nstuam muab cov kev pab tswv yim txog tshuaj, thiab cov no yuav luag tsuas yog muab los ntawm cov chaw kho mob tshuaj - cov chaw kho mob noob caj noob ces thiab kab mob tau muab tsawg heev.
Kev pom zoo uas tau qhia ua ntej:73% ntawm cov chaw soj nstuam tau siv cov lus pom zoo tshwj xeeb lossis dav dav rau pharmacogenetics.
Kev faib tawm hauv cheeb tsam:Kev ua ub ua no ntawm kev kuaj mob tau muaj ntau heev nyob rau sab qaum teb Ltalis. Ntawm cov chaw kuaj mob uas muaj kev kuaj mob txhua xyoo ntau dua 200, 23 nyob rau sab qaum teb, 4 nyob rau hauv nruab nrab, thiab 6 nyob rau sab qab teb thiab cov kob - qhov kev faib tawm ntawm cov chaw kuaj mob hauv cheeb tsam tsis sib xws.
Ntsuas qhov ntim:69% ntawm cov chaw soj nstuam muaj qhov ntim kuaj txhua xyoo > 200, 19% muaj 100 200.
Txoj cai them rov qab:Ntawm cov chaw soj nstuam uas tau soj ntsuam, 73% tau txais nyiaj rov qab tag nrho los ntawm Lub Tsev Haujlwm Saib Xyuas Kev Noj Qab Haus Huv Hauv Tebchaws (NHS), 22% tau txais nyiaj rov qab ib nrab, thiab 4% tsis tau txais nyiaj rov qab. Cov cai them nyiaj rov qab hauv cheeb tsam tsis sib xws. Tam sim no, Ltalis tsis muaj tus lej them nqi / them rov qab tshwj xeeb rau kev kuaj tshuaj pharmacogenetic, ua rau muaj kev tsis meej pem ntau hauv kev siv thoob plaws thaj tsam.
III. Kev Sib Tham thiab Cov Lus Xaus Tseem Ceeb
Txoj haujlwm tseem ceeb ntawm oncology- Kev kuaj DPYD thiab UGT1A1 tau dav dav vim yog kev txhawb nqa cov lus qhia los ntawm European Medicines Agency (EMA) thiab Italian Medicines Agency (AIFA). Txawm li cas los xij, kev siv cov kev kuaj pharmacogenetic hauv cov teb uas tsis yog oncology tsis txaus.
Kev siv tshuab thiab kev txhais lus tsis sib xws- Tsis muaj tus qauv sib koom ua ke rau cov vaj huam sib luag kuaj, cov tshuaj reagents, cov cuab yeej bioinformatics, lossis cov qauv txhais lus, ua rau tsis muaj kev sib piv zoo ntawm cov txiaj ntsig.
Kev koom tes ntawm ntau lub koom haum tsis txaus- Kev koom tes tsawg ntawm cov kws muag tshuaj thiab tsis txaus kev pab tswv yim txog kev kho mob.
Kev tsis sib npaug ntawm cheeb tsam tseem ceeb- Cov peev txheej kuaj PGx feem ntau yog nyob rau sab qaum teb cov tsev kho mob, nrog rau cov peev txheej tsawg nyob rau hauv thaj chaw nruab nrab thiab sab qab teb - qhov tsis muaj peev txheej.
Kev txhawb nqa txoj cai tsis muaj zog- Ltalis tsis muaj lub moj khaum hauv tebchaws rau kev kuaj tshuaj pharmacogenetic, ua rau muaj qhov system tsis tiav rau kev them rov qab, kev tswj hwm, kev cob qhia, thiab lwm yam.
Kev Txheeb Xyuas
Txoj kev tshawb fawb no yog thawj qhov kev ntsuam xyuas thoob tebchaws ntawm kev siv tshuaj pharmacogenetic hauv Ltalis. Nws lees paub tias pharmacogenetics hauv Ltalis tau raug siv ua ntej hauv kev kho mob oncology, tab sis feem ntau nws yog fragmented, tsis standardized, cheeb tsam tsis sib xws, thiab ntau yam kev kawm sib cais. Yog li ntawd, tsim kom muaj lub moj khaum kev sib koom tes hauv tebchaws, kev sib koom ua ke ntawm cov qauv thev naus laus zis thiab kev txhais lus, thiab kev txhim kho cov cai thiab kev cob qhia yog cov kev xav tau yav tom ntej rau Ltalis kom ua tiav kev siv tshuaj pharmacogenetic, muab cov ntaub ntawv tseem ceeb rau lwm lub tebchaws European.
Kev Ntsuas Macro & Micro'sKev daws teeb meem Pharmacogenomics tag nrho uas tsis siv neeg
-Yooj yim: Kev thauj cov qauv nrog cov raj qub, ib qho kev khiav ceev, kev ua haujlwm tsis siv neeg ntawm cov qauv mus rau qhov tshwm sim, kev sib koom ua ke nrog LIS / HIS.
-Sai sai: Cov txiaj ntsig yuav pom tau li ntawm 1 teev rau tag nrho cov txheej txheem, qhia meej txog cov kev kho mob uas haum rau tus kheej.
-Yooj yim hloov pauvNrog lub platform HWTS AIO800, kev kuaj PGx tsis txwv los ntawm qhov chaw txwv lawm - hloov pauv tau thiab siv tau ntau yam.
-Kev Paub Txog: Cov khoom lag luam nplua nuj suav nrog cov kab mob plawv thiab cov hlab ntsha hauv lub hlwb, cov kab mob puas siab puas ntsws, kev kho mob oncology, kev yug menyuam, kev kho mob poj niam thiab kev yug me nyuam, thiab lwm yam.
-Kev Sib Xws:Lub Tshuab Ntsuas Nucleic Acid Amplification Analyzer HWTS AIO800 thiab cov tshuab PCR tiag tiag.
Cov Lus Qhia Ntxiv:Muaj feem xyuamKab mobes, Cov Tshuaj Txheeb Ze, thiab Cov Hom Phiaj Ntsuas Genetic
Lub sijhawm tshaj tawm: Tsib Hlis-11-2026