La ukutholwa kusenesikhathi kwezifo ezingavamile Sekuyiyona nto eza kuqala ezinhlelweni eziningana zokunakekelwa kwempilo eSpain, kanti i-Andalusia kanye neCastilla-La Mancha ziyizifunda ezimbili ezithatha izinyathelo ezibonakala kakhulu. Ngezinhlelo ezintsha, ukuhlolwa kwezakhi zofuzo okuthuthukisiwe, kanye namaphrojekthi okuhlola ukulandelana kwezakhi zofuzo eziphelele ezinganeni ezisanda kuzalwa, abaphathi bafuna ukunciphisa izikhathi zokuxilonga nokuthuthukisa izinketho zokwelapha. izidakamizwa zezintandane ezixhaswe eSpain.
Lezi zinhlelo azihlose nje ukuqinisa izinhlelo zokuhlola izingane ezisanda kuzalwa kanye nokuhlolwa kwezakhi zofuzokodwa futhi nokunikeza ukunakekelwa okuphelele ezigulini kanye nemindeni yazo, ngokubonisana ngemikhakha eminingi, amathuluzi ezokwelapha ngocingo, kanye nokuxhumana okuseduze nocwaningo. Konke lokhu ngenhloso ecacile: ukuqinisekisa ukuthi labo abaphila nesifo esingavamile abasasekho labo abakhohliwe ohlelweni.
I-Andalusia iqinisa ukutholakala kusenesikhathi ngohlelo olusha lwezifo ezingavamile
Uhulumeni Wesifunda sase-Andalusia wethule uhlelo Uhlelo Lokunakekelwa Olubuyekeziwe Lwabantu Abathintekile Yizifo Ezingavamile evuselela isu elaqalwa ngo-2008 futhi elivumelanisa nentuthuko yesayensi nezobuchwepheshe yamanje. Lolu hlelo luhloselwe cishe abantu base-Andalusia abayingxenye yesigidi abahlushwa yizifo ezingasabalali kahle futhi bagxile, ngendlela ekhethekile, ekuxilongweni kwezifo ezizuzwe njengefa kusenesikhathi.
Umongameli wase-Andalusia, Juanma MorenoUchaze eVirgen del RocÃo University Hospital eSeville ukuthi uhlelo luzofaka phakathi utshalomali olungaphezu kwama-euro ayizigidi ezingu-8,5 kuze kube ngu-2029Lolu xhaso luzosetshenziswa, phakathi kwezinye izinjongo, ukwandisa izinhlelo zokuhlola nokwethula ukuhlolwa okuthuthukisiwe kokuthola izinguquko zofuzo futhi udale izindawo zokunakekelwa okuhlelekile kwalezi ziguli.
Ngokusho kukahulumeni wesifunda, lolu hlelo luhlose ukusiza abantu abanezifo ezingavamile ungahlali ungabonakali ohlelweni lwezempilo noma emphakathini wonke. Ngakho-ke, kugxilwe ekuqiniseni izinsiza zochwepheshe asebevele besebenza kulo mkhakha nasekuthuthukiseni izindlela zokudlulisela ukuze ukuxilongwa kwenziwe ngokushesha nangokunembile.
Lolu hlelo lusekelwe ekutholakaleni okwamukelwa yiziphathimandla zezempilo: Ingxenye enkulu yezifo ezingavamile inemvelaphi yezakhi zofuzo. futhi kubonakala ebuntwaneni, ngakho-ke ukubona izinguquko ngokushesha okukhulu kungenza umehluko esibikezelweni, ikhwalithi yokuphila kanye nokufinyelela ekwelashweni okuthile.
UMoreno ugcizelele ukuthi lesi sinyathelo senzelwe "ngeziguli futhi ngenxa yazo" futhi wagcizelela isidingo sokubhekana nalezi zifo ngozwela, uzwela kanye nombono wesikhathi eside, kungagcini nje esenzweni esithile sezokwelapha lapho kuxoxwa.
Ukuhlolwa kofuzo okuthuthukisiwe kanye nokuhlolwa okwandisiwe ohlelweni lwe-Andalusian
Phakathi kwezinyathelo eziphawuleka kakhulu zohlelo olusha lwase-Andalusia yi- ukufakwa kwamasu okuhlola izakhi zofuzo asezingeni eliphezulu ukuhlonza izifo ezingavamile ezizuzwe njengefa kusenesikhathi. Lokhu kuhilela ukudlulela ngale kokuhlolwa kwamakhemikhali okuvamile nokuhlanganisa izivivinyo ezikwazi ukuthola izinhlobo ezahlukene zofuzo ezingaholela ezifweni ezinkulu kodwa ezingelapheka uma zixazululwa ngesikhathi.
I-Andalusian Health Service isiqalile ukwandisa izinhlelo zokuhlolwa kwezinsana kanye nokukhulelwaLokhu kufaka phakathi ukwengezwa kwezifo ezintsha ekuhlolweni okudumile "kokugawula isithende" kanye nokwandiswa kokuhlolwa kwabesifazane abakhulelwe abanezici eziyingozi. Ngaphezu kwalokho, ukukhulisa i- Ukubonisana ngaphambi kokukhulelwa ekunakekelweni okuyisisekeloukuhlola isizinda kanye nezingozi ezingaba khona zofuzo ngaphambi kokukhulelwa.
Omunye umsebenzi ukuthuthukisa ukuphathwa kolwazi lwezokwelaphaIzicelo zokuhlolwa kwezakhi zofuzo zizofakwa kurekhodi lezempilo le-elekthronikhi, okwenza kube lula ngamathimba ezempilo ukuba abe nayo yonke idatha efanele ngaphandle kokuphinda izivivinyo noma ukuchitha isikhathi emaphepheni. I-Telemedicine nayo ibhekwa njengethuluzi elibalulekile lokuletha ukunakekelwa okukhethekile ezindaweni ezingenazo izikhungo zokudlulisela.
Uhlelo lwase-Andalusia alugcini nje ngezifo esezitholakale kakade. Luhlanganisa Izenzo ezithile zamacala angenaso isifoIqembu elikhulu leziguli selineminyaka lihlolwa ngaphandle kwempendulo ecacile. Inhloso ukuqinisa izindlela zokwelashwa zalezi zimo eziyinkimbinkimbi nokwenza kube lula ukudluliselwa kwazo emaqenjini anolwazi oluphezulu lwezakhi zofuzo nezifo ezingavamile.
Ngesikhathi esifanayo, umphakathi ugcina inethiwekhi yezikhungo zokubhekisela ezingu-23 ezixhumene nezifo ezingavamileLokhu kugcwaliswa ngamayunithi akhethekile ezifunda. Isu lamanje lihlose ukuhlanganisa nokuxhumanisa le nethiwekhi, ukuze iziguli zikwazi ukuhamba ohlelweni ngezithiyo ezimbalwa zokuphatha kanye nokuhlukaniswa okuncane kokunakekelwa.
Ukubonisana ngemikhakha eminingi kanye nokusekelwa okuphelele kwemindeni
Esinye sezici eziphindaphindayo esulweni lase-Andalusia ukudalwa ukubonisana kwemikhakha eminingi lapho, ngaphakathi kwesakhiwo esifanayo, ochwepheshe abavela emikhakheni ehlukene behlangana khona: ochwepheshe bezokwelapha, abasebenzi abahlengikazi, isayensi yezengqondo, umsebenzi wezenhlalo ngisho namaphrofayili ezemfundo lapho isimo sidinga lokho.
Umqondo uwukuthi iziguli kanye nemindeni yazo zithola impendulo ephelele engenzeka kusekethe eyodwaLokhu kugwema ukuhamba okungadingekile phakathi kwezinsizakalo futhi kunciphisa uhlu lokulinda izivivinyo noma ukuhlolwa okubalulekile. Lawa mayunithi ahlose ukuhlanganisa izici zezempilo, ezenhlalo, kanye nezemfundo, ngokugxila kakhulu emisebenzini kanye nokufakwa kwesikole.
Uhlelo luhlanganisa futhi izinhlelo ezithile zezifo ezingakahlolwakanye nokuvuselelwa kwezinqubo zofuzo kanye nokufakwa kwamaphrofayili amasha ochwepheshe kuphothifoliyo yomphakathi, njengokwelashwa kwezinyawo, ukubhekana nezinkinga ezithile ezihlobene nezifo ezithile ezingavamile.
IBhodi ligcizelela ukuthi ukuthuthukisa ukunakekelwa akukwazi ukuhlukaniswa ukwesekwa ngokomzwelo nangokwengqondoImindeni eminingi ibekezelela iminyaka yokungaqiniseki, umthwalo wezezimali, kanye nokucindezeleka komuntu siqu, ngakho-ke kuhlelwe ukuqinisa izinsiza zempilo yengqondo kanye neziteshi zokweluleka kokubili ngesikhathi senqubo yokuxilonga kanye nasezigabeni zokwelashwa kanye nokulandelela.
Ukuqinisekisa ukuthi izinyathelo azihlali zisephepheni nje kuphela, uhlelo luzofaka phakathi ithimba lokuqapha Lo mzimba uzokwengamela ukuqaliswa kwawo, uhlole imiphumela, futhi ugcine ukuxhumana okuqhubekayo nezinhlangano zeziguli kanye nezinhlaka zomkhakha. Uzoba nomthwalo wemfanelo wokuhlonza izinkinga ekusetshenzisweni okusebenzayo kohlelo kanye nokusikisela ukulungiswa uma kudingeka.
Iphrojekthi ye-GENEBORN: Ukuhlolwa Kwezakhi Zofuzo Zezinsana Ezisanda Kuzalwa eSpain
Ngenkathi i-Andalusia iqinisa isu layo lokuzimela, Isibhedlela saseYunivesithi saseToledo uhlanganyela njengeqembu elihlangene ku- Iphrojekthi ye-Genome ye-Genema ye-Neonatal Neonatalisinyathelo sombuso wonke esihlose ukuhlanganisa ukuhlolwa kwe-genomic ekunakekelweni kwezingane ezisanda kuzalwa yoHlelo Lwezempilo Lukazwelonke.
Lo msebenzi wokuhlola, ohlelwe yi- Isikhungo Senethiwekhi Yocwaningo Lwezokwelapha Sezifo Ezingavamile (i-CIBERER) futhi ixhaswe yi- I-Ramón Areces Foundation, icabanga ngokulandelana kwe-genome yonke (WGS) okungaphezu kancane Izinsana eziyi-1.000Inhloso ukuhlola ukuthi le modeli yokuhlola ivumela yini ukutholwa kusenesikhathi izifo zofuzo ezingase zithathelwe izinyatheloeziningi zazo azivamile, ngaphambi kokuba kuvele izimpawu.
Insizakalo ye-Genetics yesikhungo saseToledo, eholwa yi UCarles de DiegoUhlanganyela nethimba elihlanganisa izazi zezakhi zofuzo zezokwelapha, odokotela bezifo zemizwa, odokotela bezingane ezisanda kuzalwa, kanye nochwepheshe be-pharmacogenetic. Umsebenzi wakhe ukabili: ngakolunye uhlangothi, ukusebenzisa ubuchwepheshe bokulandelana, kanti ngakolunye uhlangothi, ukuhumusha lolo lwazi lube yizinqumo zezokwelapha eziwusizo zokuqapha usana olusanda kuzalwa.
Intsha enkulu ye-GENEBORN ilele eqinisweni lokuthi, ngokusebenzisa indlela eyodwa, kungenzeka hlaziya amakhulu ezakhi zofuzo ezihlotshaniswa nezifo ezingathi sÃna kodwa ezingelapheka uma zitholakale kusenesikhathi. Ngokwemininingwane yephrojekthi, zizocwaningwa Izakhi zofuzo ezingama-481 kuxhunywe ku- Izifo ezingama-508 ezingathathelwanaeziningi zazo ze-metabolic, okukhona kuzo izidakamizwa ezingu-183 lokho kungathuthukisa isibikezelo.
Le ndlela ihlose ukuhamba phambili kunezindlela zendabuko zokwelapha ngamakhemikhali, inikeza ulwazi olubanzi nolunemininingwane eminingi. Ngaphezu kwalokho, i-pharmacogenomics Kuvela njengethuluzi elibalulekile lokulungisa kangcono ukwelashwa nokunciphisa ukusabela okubi kwemithi, inkinga eholela ekubonisaneni okwengeziwe, ukulaliswa esibhedlela kanye nezinkinga ezingagwenywa.
Kusukela ku-IMPaACT kuya ku-1 Million Genomes: ukuxhumana neYurophu kanye nemithi yokunemba
I-GENEBORN ayiveli ezeni, kodwa isebenzisa ingqalasizinda eyenzelwe lo msebenzi. I-IMPaACT, eqhutshwa yi I-Carlos III Health Institute ukufaka imithi ye-genomic ngaphakathi koHlelo Lwezempilo Lukazwelonke. Lesi sinyathelo sangaphambilini sigxile ku ukuxilongwa kwezifo ezingavamile ngokwe-genomic kubantu abadala nasezinganeni, kukhiqiza amathuluzi, izizindalwazi kanye nezinqubo ezisetshenziswa manje ekuhlolweni kwezinsana.
Ngaphezu kwalokho, lo msebenzi ugcina ukugxila okucacile eYurophu. Enye yezinhloso zawo sungula amanethiwekhi nezinye izikhungo zomhlaba wonke abathuthukisa izinhlelo ezifanayo, ezizovumela ukwabelana ngolwazi ngezifo ezingavamile, ukwelashwa okusha, kanye nezinhlobo zofuzo ezingachazwanga kahle.
Kulesi simo, iSpain nayo ihlanganyela kuphrojekthi enkulu yaseYurophu Ama-Genome ayisigidi esisodwaLe phrojekthi ihlose ukuqoqa ulwazi lwe-genomic oluvela kubantu abayisigidi baseYurophu ukuze sijulise ukuqonda kwethu i-genome yomuntu futhi senze lula ukuthuthukiswa kwezindlela zokwelapha ezintsha. Umqondo uwukuthi idatha ekhiqizwayo izosetshenziselwa izinjongo zezokwelapha nezesayensi, njalo ngaphansi kwezindinganiso zokuziphatha eziqinile kanye nokuvikelwa kwedatha.
Izinhlelo ezifanayo seziqalisiwe kwamanye amazwe, njenge I-BabySeq kanye ne-Guardian e-United States noma Ucwaningo Lwezakhi Zofuzo Ezisanda Kuzalwa e-United Kingdom, lapho kulandelana khona i-genome 100.000 abasanda kuzalwaUmgomo walezi zinhlelo ukuhlola ukuthi ukuhlolwa kwezakhi zofuzo kungagcina kuthathe indawo yokuhlolwa kwe-metabolic okuvamile, into abagqugquzeli be-GENEBORN abayibheka njengengenzeka ngokwengeziwe.
Ukuze siqhubekele phambili kulokhu, kuye kwadingeka ukuthi ukubuyekezwa okuphelele kwamakomidi okuziphatha kanye nokuthuthukiswa kwamafomu okuvuma anolwazi oluningiliziwe, ahambisana nemithethonqubo yokuvikela idatha yaseSpain neyaseYurophu. Kuhlaziywa izakhi zofuzo ezinezinga eliphezulu lobufakazi besayensi kanye nokungena okuphezulu, futhi kuphela izinhlobo ezihlukaniswe njengezifo noma mhlawumbe ezibangela izifo ezibikwayo, kulandela imigomo ye-American College of Medical Genetics and Genomics.
Uma kubhekwa konke, izinhlelo eziqalwe e-Andalusia kanye namaphrojekthi e-genomic afana ne-GENEBORN zibonisa indlela uhlelo lwezempilo lwaseSpain oluthatha ngayo izinyathelo eziqinile zokuqinisekisa ukuthi ukutholwa kusenesikhathi kwezifo ezingavamile Kufanele kuyeke ukuba yinto ehlukile futhi kube yingxenye yomkhuba wokunakekelwa kwempilo ojwayelekile. Kusukela ekwandiseni ukuhlolwa nokuhlolwa kofuzo kuya ekudaleni imitholampilo eminingi kanye nokuxhumana namanethiwekhi ezokwelapha aseYurophu ngokunemba, konke kukhomba imodeli lapho ukuxilongwa kuza khona kusenesikhathi, ukwelashwa kulungiselelwe kangcono, futhi imindeni izizwa ingakhululekile lapho ibhekene nezifo ezingavamile, nakuba zingavamile, ezinomthelela omkhulu empilweni yazo yansuku zonke.
