Turashaka gushiraho kuki yinyongera kugirango twumve uburyo ukoresha GOV.UK, ibuka igenamiterere ryawe kandi utezimbere serivisi za leta.
Wakiriye kuki ziyongera.Wahisemo kuki zitabishaka.Urashobora guhindura igenamiterere rya kuki igihe icyo aricyo cyose.
Keretse niba byavuzwe ukundi, iki gitabo cyatanzwe munsi yuburenganzira bwa leta v3.0.Kureba uruhushya, sura nationalarchives.gov.uk/doc/open-government-licence/version/3 cyangwa wandike kuri Politiki yamakuru, National Archives, Kew, London TW9 4DU, cyangwa imeri: psi @ nationalarchives.gov.UBWONGEREZA BUKOMEYE.
Niba tumenye amakuru yandi makuru yuburenganzira bwa muntu, uzakenera kubona uruhushya rutangwa na nyirubwite.
Igitabo kiraboneka kuri https://www.gov.uk/ubutegetsi/ibitangaza/genomika-bidasanzwe-ubuzima/genomika-bidasanzwe-ubuzima-yuzuye-amakuru-yashoboka-urubuga.
ADN niyo shingiro ryubuzima bwibinyabuzima kandi yavumbuwe bwa mbere mu 1869 n’umuhanga mu bya shimi w’umusuwisi Friedrich Miescher.Ikinyejana cyavumbuwe cyiyongereye cyatumye James Watson, Francis Crick, Rosalind Franklin, na Maurice Wilkins mu 1953 bategura icyitegererezo kizwi cyane cyitwa "double helix", kigizwe n'iminyururu ibiri.Hamwe no gusobanukirwa bwa nyuma imiterere ya ADN, byatwaye indi myaka 50 mbere yuko genome yuzuye yumuntu ikurikiranwa mumwaka wa 2003 numushinga wa muntu.
Urukurikirane rwa genomuntu yumuntu mugihe cyimyaka igihumbi ni impinduka mugusobanukirwa kwimiterere yabantu.Hanyuma, dushobora gusoma igishushanyo mbonera cya kamere.
Kuva icyo gihe, tekinoroji dushobora gukoresha kugirango dusome genome yumuntu yateye imbere byihuse.Byatwaye imyaka 13 kugirango ukurikirane genome ya mbere, bivuze ko ubushakashatsi bwinshi bwa siyansi bwibanze gusa kubice bimwe na bimwe bya ADN.Genome yumuntu yose irashobora gukurikiranwa mumunsi umwe.Iterambere muri ubu buryo bukurikirana ryatumye habaho impinduka zikomeye mubushobozi bwacu bwo gusobanukirwa genomuntu.Ubushakashatsi bunini bwa siyansi bwaduteye gusobanukirwa isano iri hagati y ibice bimwe na bimwe bya ADN (genes) na bimwe mubiranga.Nyamara, ingaruka za gen ku mico itandukanye ni urujijo rutoroshye: buri wese muri twe afite genes zigera ku 20.000 zikorera mu miyoboro igoye igira ingaruka ku mico yacu.
Kugeza ubu, ubushakashatsi bwibanze ku buzima n’indwara, kandi rimwe na rimwe twateye intambwe igaragara.Aha niho genomics iba igikoresho cyibanze mu gusobanukirwa ubuzima niterambere ryiterambere.Ibikorwa remezo bya genomika mu Bwongereza biza ku isonga ku isi bishyira ku mwanya wa mbere ku isi mu bijyanye n’imibare n’ubushakashatsi.
Ibi byagaragaye mu cyorezo cya COVID, Ubwongereza buza ku isonga mu gukwirakwiza genome virusi ya SARS-CoV-2.Ikirangantego cyiteguye kuzaba inkingi nkuru y’ubuvuzi bw’Ubwongereza buzaza.Igomba kurushaho gutanga kumenya hakiri kare indwara, gusuzuma indwara zidasanzwe kandi bigafasha kwita kubuzima bwiza kubantu.
Abahanga basobanukiwe neza uburyo ADN yacu ifitanye isano nibintu bitandukanye biranga ubuzima butandukanye, nk'akazi, siporo n'uburere.Ubu bushakashatsi bwakoresheje ibikorwa remezo bya genomic byatejwe imbere mubushakashatsi bwubuzima, bihindura imyumvire yacu yukuntu ibintu byinshi biranga abantu bibaho kandi bigatera imbere.Mugihe ubumenyi bwa genomique bwimico itari myiza bugenda bwiyongera, busigaye inyuma yimico myiza.
Amahirwe n'imbogamizi tubona muri genomika yubuzima, nko gukenera ubujyanama bwa geneti cyangwa mugihe ibizamini bitanga amakuru ahagije kugirango yemeze imikoreshereze yabyo, fungura idirishya mubihe bizaza bya genomika itari iy'ubuzima.
Usibye gukoresha ubumenyi bwa genomic mu rwego rwubuzima, umubare w’abantu ugenda wiyongera bamenya ubumenyi bwa genomique binyuze mu bigo byigenga bitanga serivisi zita ku baguzi.Kubwishyu, ibigo biha abantu amahirwe yo kwiga ibisekuruza byabo no kubona amakuru ya genomique kubyerekeye imico itandukanye.
Gukura ubumenyi mubushakashatsi mpuzamahanga byafashije iterambere ryiterambere ryikoranabuhanga rishya, kandi ubunyangamugayo dushobora guhanura ibiranga abantu muri ADN buragenda bwiyongera.Usibye kubyumva, ubu birashoboka tekiniki yo guhindura genes zimwe.
Mugihe genomics ifite ubushobozi bwo guhindura ibintu byinshi bya societe, imikoreshereze yayo irashobora kuzana imyitwarire, amakuru ndetse n’umutekano.Ku rwego rw’igihugu ndetse no ku rwego mpuzamahanga, ikoreshwa rya genomics ritegekwa n’amabwiriza menshi y’ubushake n’andi mategeko rusange atagenewe umwihariko wa genomika, nk’amategeko rusange yo kurinda amakuru.Uko imbaraga za genomics zigenda ziyongera kandi ikoreshwa ryayo rikaguka, guverinoma zigenda zihura n’ihitamo niba ubu buryo buzakomeza kwinjiza umutekano muri sosiyete.Gukoresha imbaraga zitandukanye z’Ubwongereza mu bikorwa remezo n’ubushakashatsi bwa genomika bizasaba imbaraga za leta n’inganda.
Niba ushobora kumenya niba umwana wawe ashobora kuba indashyikirwa muri siporo cyangwa amasomo, wabikora?
Ibi nibimwe mubibazo dushobora guhura nabyo mugihe cya vuba kuko siyanse ya genomic iduha amakuru menshi kandi menshi yerekeye genomuntu yumuntu nuruhare igira muguhindura imico n'imyitwarire yacu.
Amakuru ajyanye na genomuntu yumuntu - idasanzwe ya deoxyribonucleic acide (ADN) - isanzwe ikoreshwa mugupima indwara zimwe na zimwe no kwivuza.Ariko natwe dutangiye kumva uburyo genome igira ingaruka kumico nimyitwarire yabantu birenze ubuzima.
Hariho ibimenyetso byerekana ko genome igira ingaruka kubidafite ubuzima nko gufata ibyago, gushiraho ibintu no gukoresha.Mugihe twiga byinshi kubyerekeranye nuburyo gen zigira ingaruka kumico, turashobora guhanura neza uburyo bishoboka kandi nuburyo umuntu azamura iyo mico ukurikije uko genome ikurikirana.
Ibi bitera kwibaza ibibazo byinshi.Aya makuru akoreshwa ate?Ibi bivuze iki kuri societe yacu?Nigute politiki ishobora guhinduka mubice bitandukanye?Dukeneye amabwiriza menshi?Nigute tuzakemura ibibazo byimyitwarire yavuzwe, dukemura ingaruka zivangura nibishobora guhungabanya ubuzima bwite?
Mugihe bimwe mubishobora gukoreshwa muri genomics bidashobora kugaragara mugihe gito cyangwa no hagati, uburyo bushya bwo gukoresha amakuru ya genomic burimo gushakishwa muri iki gihe.Ibi bivuze ko ubu arigihe cyo guhanura imikoreshereze yigihe kizaza.Tugomba kandi gutekereza ku ngaruka zishoboka niba serivisi za genomic zigera kubaturage mbere yuko siyanse iba yiteguye.Ibi bizadufasha gusuzuma neza amahirwe ningaruka izi porogaramu nshya za genomics zishobora kwerekana no kumenya icyo twakora mugusubiza.
Iyi raporo itangiza genomics kubatari inzobere, ikora uko siyanse yagiye ihinduka, kandi igerageza gusuzuma ingaruka zayo mubice bitandukanye.Raporo ireba ibishobora kuba ubu n'ibishobora kubaho mu gihe kizaza, ikanasuzuma aho imbaraga za genomics zishobora gukabya.
Genomics ntabwo ari ikibazo cya politiki yubuzima gusa.Ibi birashobora kugira ingaruka kuri politiki zitandukanye, uhereye ku burezi n'ubutabera mpanabyaha kugeza ku kazi n'ubwishingizi.Iyi raporo yibanze kuri genomics yabantu itari ubuzima.Arimo kandi akora ubushakashatsi ku mikoreshereze ya genome mu buhinzi, ibidukikije na biologiya ya sintetike kugira ngo yumve ubugari bw’ibishobora gukoreshwa mu tundi turere.
Nyamara, ibyinshi mubyo tuzi kuri genomics yabantu biva mubushakashatsi busuzuma uruhare rwayo mubuzima n'indwara.Ubuzima nabwo ni ahantu hashobora gutezwa imbere ibyifuzo byinshi.Aho niho tuzatangirira, kandi Igice cya 2 nicya 3 byerekana siyanse niterambere rya genomika.Ibi bitanga ibisobanuro kubijyanye na genomics kandi bitanga ubumenyi bwa tekiniki bukenewe kugirango twumve uburyo genomics igira ingaruka kubitari ubuzima.Basomyi badafite tekiniki ya tekinike barashobora gusimbuka neza iyi ntangiriro mugice cya 4, 5, na 6, byerekana ibikubiye muri iyi raporo.
Abantu kuva kera bashimishijwe na genetics yacu n'uruhare igira mu miterere yacu.Turashaka kumva uburyo ibintu bikomoka kumiterere bigira ingaruka kumiterere yacu, ubuzima, imiterere, imico nubuhanga, nuburyo bigira ingaruka kubidukikije.
Miliyari 4, imyaka 13 yikiguzi nigihe cyo guteza imbere genome yambere yumuntu (igiciro cyahinduwe nifaranga).
Ikirangantego ni ubushakashatsi kuri genome y'ibinyabuzima - uko ADN ikurikirana - hamwe n'ingirabuzimafatizo zacu zose zikorana muri sisitemu y'ibinyabuzima.Mu kinyejana cya 20, ubushakashatsi bwakozwe kuri genome muri rusange bwagarukiraga gusa ku kureba impanga kugira ngo bige uruhare rw'umurage n'ibidukikije mu miterere y'umubiri n'imyitwarire (cyangwa “kamere n'uburere”).Nyamara, hagati ya 2000 yaranzwe no gutangaza bwa mbere genome yumuntu no guteza imbere ikoranabuhanga ryihuse kandi rihendutse.
Ubu buryo busobanura ko abashakashatsi amaherezo bashobora kwiga kode ya genetike itaziguye, ku giciro gito kandi mugihe gito.Urutonde rwa genome rwabantu, rwatwaraga imyaka kandi rugatwara amamiliyaridi yama pound, ubu rutwara munsi yumunsi kandi rugura amapound 800.Abashakashatsi ubu barashobora gusesengura genome yabantu babarirwa mu magana cyangwa bagahuza na biobanks ikubiyemo amakuru ajyanye na genoside yabantu ibihumbi.Nkigisubizo, amakuru ya genomic arimo gukusanywa kubwinshi kugirango akoreshwe mubushakashatsi.
Kugeza ubu, genomics yakoreshejwe cyane cyane mubuvuzi nubushakashatsi bwubuvuzi.Kurugero, kumenya ahari genetike zifite inenge, nka BRCA1 ihinduka ifitanye isano na kanseri yamabere.Ibi birashobora kwemerera kuvura hakiri kare, bidashoboka utabanje kumenya genome.Ariko, uko imyumvire yacu ya genomika yateye imbere, byarushijeho kugaragara ko ingaruka za genome zirenze kure ubuzima nindwara.
Mu myaka 20 ishize, gushaka gusobanukirwa imiterere yimiterere yacu byateye imbere cyane.Dutangiye gusobanukirwa imiterere n'imikorere ya genome, ariko haracyari byinshi byo kwiga.
Twese tuzi kuva 1950 ko ADN ikurikirana ari code ikubiyemo amabwiriza yukuntu selile zacu zikora proteyine.Buri gene ihuye na poroteyine itandukanye igena ibiranga ibinyabuzima (nk'ibara ry'amaso cyangwa ubunini bw'indabyo).ADN irashobora guhindura imico binyuze muburyo butandukanye: gene imwe irashobora kumenya ikiranga (urugero, ubwoko bwamaraso ABO), genes nyinshi zirashobora gukora hamwe (urugero, gukura kwuruhu na pigmentation), cyangwa genes zimwe zirashobora guhuzagurika, zihisha ingaruka zitandukanye. genes.genes.izindi genes (nk'uruhara n'umusatsi).
Imico myinshi iterwa nigikorwa gihuriweho na benshi (wenda ibihumbi) mubice bitandukanye bya ADN.Ariko ihinduka ryimiterere muri ADN yacu ritera impinduka za poroteyine, zishobora gutuma imico ihinduka.Numushoferi nyamukuru wibinyabuzima bihindagurika, bitandukanye nindwara.Guhinduka birashobora guha umuntu inyungu cyangwa ibibi, kuba impinduka zidafite aho zibogamiye, cyangwa nta ngaruka namba.Birashobora gutangwa mumiryango cyangwa biva mu gusama.Ariko, iyo bibaye mubukure, mubisanzwe bigabanya guhura kwabantu aho kuba urubyaro rwabo.
Guhindagurika mu mico birashobora kandi guterwa nuburyo bwa epigenetike.Barashobora kugenzura niba gen zifunguye cyangwa zizimye.Bitandukanye n’imihindagurikire y’irondakoko, birashobora guhinduka kandi biterwa n’ibidukikije.Ibi bivuze ko gusobanukirwa nimpamvu yimico atari ikibazo cyo kwiga gusa urukurikirane rw'ibinyabuzima rugira ingaruka kuri buri kintu.Birakenewe gusuzuma genetika muburyo bwagutse, kugirango dusobanukirwe imiyoboro n'imikoranire muri genome yose, ndetse n'uruhare rw'ibidukikije.
Ikoranabuhanga rya genomic rirashobora gukoreshwa kugirango hamenyekane urutonde rwumuntu.Ubu buryo bukoreshwa cyane mubushakashatsi bwinshi kandi buragenda butangwa namasosiyete yubucuruzi kugirango ubuzima cyangwa isesengura ryabakurambere.Uburyo bwakoreshejwe namasosiyete cyangwa abashakashatsi kugirango bamenye uko umuntu akurikirana bikurikirana, ariko kugeza vuba aha, tekinike yitwa microarraying ya ADN yakoreshejwe cyane.Microarray ipima ibice bya genomuntu aho gusoma ibyiciro byose.Amateka, microchips yabaye yoroshye, yihuta, kandi ihendutse kuruta ubundi buryo, ariko imikoreshereze yayo ifite aho igarukira.
Iyo amakuru amaze gukusanywa, arashobora kwigwa ku gipimo akoresheje ubushakashatsi bwa genome-bugari (cyangwa GWAS).Ubu bushakashatsi burimo gushakisha ubwoko butandukanye bujyanye nibiranga.Nyamara, kugeza ubu, nubushakashatsi bunini bwerekanye igice gusa cyingaruka zishingiye ku ngirabuzimafatizo zishingiye ku mico myinshi ugereranije n’ibyo twakwitega ku bushakashatsi bw’impanga.Kunanirwa kumenya ibimenyetso byose byerekeranye na genetike biranga bizwi nkikibazo cya "kubura umurage".Akajambo k'epfo
Nyamara, ubushobozi bwa GWAS bwo kumenya ubwoko bujyanye nubwoko buratera imbere hamwe namakuru menshi, bityo ikibazo cyo kubura umurage gishobora gukemuka kuko hakusanyijwe amakuru menshi ya genomic.
Byongeye kandi, uko ibiciro bikomeza kugabanuka kandi ikoranabuhanga rikomeza gutera imbere, abashakashatsi benshi kandi benshi bakoresha tekinike yitwa genome ikurikirana aho gukoresha microarray.Ibi bisoma mu buryo butaziguye genome zose uko zikurikirana aho kuba igice.Urukurikirane rushobora gutsinda imbogamizi nyinshi zijyanye na microarray, bikavamo amakuru akize kandi menshi.Aya makuru kandi arafasha kugabanya ikibazo cyo kutaragwa, bivuze ko dutangiye kwiga byinshi kubyerekeranye na genes zikorana kugirango bigire ingaruka kumico.
Mu buryo nk'ubwo, icyegeranyo kinini cya genome zose zikurikirana muri iki gihe ziteganijwe kubikorwa byubuzima rusange bizatanga imibare ikize kandi yizewe kubushakashatsi.Ibi bizagirira akamaro abiga imico myiza kandi itari myiza.
Mugihe twiga byinshi kubyerekeranye nuburyo gen zigira ingaruka kumico, turashobora guhanura neza uburyo genes zitandukanye zishobora gukorera hamwe kubintu runaka.Ibi bikorwa muguhuza ingaruka ziterwa na genes nyinshi murwego rumwe rwinshingano za genetike, izwi nkamanota menshi.Amanota ya polygene akunda kuba abahanuzi neza byerekana ko umuntu ashobora kugira imico kuruta ibimenyetso bya genetike.
Amanota ya polygeneque ubu arimo kwamamara mubushakashatsi bwubuzima hagamijwe umunsi umwe kuyikoresha mu kuyobora ibikorwa byubuvuzi kurwego rwumuntu.Nyamara, amanota menshi afite aho agarukira na GWAS, kuburyo benshi batarahanura neza intego zabo neza, kandi amanota menshi yo gukura agera kuri 25% gusa.3] Ibi bivuze ko kubimenyetso bimwe bishobora kuba bidasobanutse nkubundi buryo bwo gusuzuma nko gupima amaraso cyangwa MRI.Nyamara, uko amakuru ya genomic agenda atera imbere, ibigereranyo bya polygenicity nabyo bigomba kunozwa.Mu bihe biri imbere, amanota menshi ashobora gutanga amakuru kubyerekeye ingaruka z’amavuriro hakiri kare kuruta ibikoresho bisanzwe byo gusuzuma, kandi muri ubwo buryo birashobora gukoreshwa mu guhanura ibimenyetso bitari ubuzima.
Ariko, nkuburyo ubwo aribwo bwose, bufite aho bugarukira.Inzitizi nyamukuru ya GWAS ni itandukaniro ryamakuru yakoreshejwe, atagaragaza ubudasa bwabaturage muri rusange.Ubushakashatsi bwerekanye ko GWAS igera kuri 83% ikorerwa mu matsinda akomoka mu Burayi gusa.Ibi bigaragara ko ari ikibazo kuko bivuze ko GWAS ishobora gusa kuba ifitanye isano nabantu bamwe.Kubwibyo, guteza imbere no gukoresha ibizamini byateganijwe bishingiye ku kubogama kwabaturage ba GWAS bishobora gutera ivangura rikorerwa abantu hanze yabaturage ba GWAS.
Kubiranga ubuzima buzira umuze, guhanura gushingiye ku manota ya polygeneque kuri ubu ntabwo bitanga amakuru menshi kuruta amakuru adahari.Kurugero, amanota menshi yo guhanura ibyagezweho mu burezi (rimwe mu manota akomeye ya polygeneque aboneka) ntabwo atanga amakuru menshi kuruta ingamba zoroshye zuburere bwababyeyi.Imbaraga zo guhanura amanota menshi azabura kwiyongera uko igipimo n’ubudasa bw’ubushakashatsi, kimwe n’ubushakashatsi bushingiye ku mibare ikurikirana ya genome, byiyongera.
Ubushakashatsi bwa genome bwibanze kuri genomika yubuzima nindwara, bifasha kumenya ibice bya genome bigira ingaruka kumyanya yindwara.Ibyo tuzi ku ruhare rwa genomika biterwa n'indwara.Ku ndwara zimwe na zimwe, nk'indwara ya Huntington, turashobora guhanura neza ko umuntu ashobora kwandura iyo ndwara dukurikije imibare yabo.Ku ndwara ziterwa na genes nyinshi zifatanije n’ibidukikije, nk'indwara z'umutima zifata umutima, ukuri kw'ibyahanuwe ni bike cyane.Akenshi, uko indwara cyangwa imiterere bigoye, niko bigoye kubyumva neza no guhanura.Nyamara, ubuhanuzi bwo guhanura buratera imbere uko cohort yize igenda iba nini kandi itandukanye.
Ubwongereza buri ku isonga mu bushakashatsi bwerekeranye n’ubuzima.Twateje imbere ibikorwa remezo binini mu ikoranabuhanga rya genomic, ububiko bwubushakashatsi nimbaraga zo kubara.Ubwongereza bwagize uruhare runini mu bumenyi bwa genome ku isi, cyane cyane mu cyorezo cya COVID-19 ubwo twayoboraga inzira mu buryo bukurikirana virusi ya SARS-CoV-2 hamwe n’ubundi buryo bushya.
Genome UK n’ingamba zikomeye z’Ubwongereza ku buzima bw’ubuzima rusange, hamwe na NHS ihuza urutonde rwa genome mu buvuzi busanzwe bwo kuvura indwara zidasanzwe, kanseri cyangwa indwara zanduza.6]
Ibi bizanatuma ubwiyongere bugaragara bwumubare wabantu baboneka mubushakashatsi.Ibi bigomba kwemerera ubushakashatsi bwagutse no gufungura uburyo bushya bwo gukoresha genomika.Nkumuyobozi wisi yose mugutezimbere amakuru yibikorwa remezo nibikorwa remezo, Ubwongereza bufite amahirwe yo kuba umuyobozi wisi yose mumyitwarire no kugenzura siyanse ya genomic.
Ibikoresho byo gupima mu buryo butaziguye (DTC) bigurishwa mu buryo butaziguye ku baguzi batabigizemo uruhare n'abashinzwe ubuzima.Amacandwe ya saliva yoherejwe kubisesengura, biha abakiriya ubuzima bwihariye cyangwa isesengura ryinkomoko mubyumweru bike gusa.Iri soko riratera imbere byihuse, miriyoni mirongo n’abaguzi ku isi hose batanga urugero rwa ADN kugira ngo bakurikirane ubucuruzi kugira ngo bamenye ubuzima bwabo, ibisekuruza byabo ndetse n’imiterere y’imiterere y’imiterere.
Ubusobanuro bwibintu bimwe na bimwe bishingiye ku isesengura ritanga serivisi ku baguzi birashobora kuba bike cyane.Ibizamini birashobora kandi guhindura ubuzima bwite binyuze mugusangira amakuru, kumenyekanisha abavandimwe, hamwe nibishobora guterwa muri protocole yumutekano wa cyber.Abakiriya ntibashobora kumva neza ibyo bibazo mugihe ubaze isosiyete ikora ibizamini bya DTC.
Kwipimisha rusange kwa DTC kubiranga ubuvuzi nabyo ntibisanzwe.Barenga ku mategeko agenga ibizamini byo kwa muganga kandi bashingira aho kwigenga ku bushake bw'abatanga ibizamini.Amenshi muri ayo masosiyete nayo ashingiye hanze y'Ubwongereza kandi ntabwo agengwa mu Bwongereza.
Urutonde rwa ADN rufite imbaraga zidasanzwe mubumenyi bwubucamanza bwo kumenya abantu batazwi.Isesengura ryibanze rya ADN ryakoreshejwe cyane kuva ADN yatangira gutunga urutoki ADN mu 1984, naho Ububiko bw’igihugu bw’Ubwongereza (NDNAD) bukubiyemo imyirondoro ya miliyoni 5.7 hamwe n’ibyaha byakorewe 631.000.8]
Igihe cyo kohereza: Gashyantare-14-2023