Njengoba okutholakala kwesayensi nezokudokotela kusisiza ukuba siqonde kangcono ukuthi ukukhiqizwa kwethu kwezakhi zofuzo kuthinta kanjani imizimba yethu kanye nempilo yethu, ukuhlolwa okusha kubuye kwakhiwe ukuze kusize abantu bazi ukuthi izifo zabo zihambisana nezifo ezithile noma izimo ezithile. Abantu sebeqalile ukuzibuza ukuthi kufanele bahlolwe yini. Leso sinqumo singenziwa ngokuqonda ukuthi yiziphi izivivinyo zofuzo eziphathelene nazo futhi zibukeze izinzuzo nezingozi zokuhlolwa kofuzo.
Kungani Izivivinyo Zama-Genetic Zithuthukiswa?
Izinkulungwane zeminyaka, imizimba yabantu iye yahlakulela izifo noma izimo ngolwazi oluncane kakhulu ngokuthi kungani. Kungani owesifazane oyedwa ehlakulela umdlavuza webele, kodwa omunye akwenzi? Kungani umuntu oyedwa ehlakulela isifo sikaParkinson , kodwa omunye akwenzi? Ngenkathi izimo zezemvelo zingatshela ingxenye yendaba, kwaqaphela ukuthi kufanele kube khona okuthile ngomzimba womuntu owafaka isandla ekuthuthukiseni izinkinga zezokwelapha, futhi.
Ukuthuthukiswa kokuqala kwesayensi yezokwelapha kwakuhloselwe ukuqiniseka ukuthi izifo nemibandela kungelashwa noma kuphulukiswe. Phakathi neminyaka engama-50 noma engu-60 edlule, isayensi yaqala ukubheka ukwakheka kwezakhi zofuzo njengendlela yokuphendula imibuzo eyinhloko mayelana nokuthi kungani abantu behlukene ekuthuthukiseni lezi zinkinga.
Okunye imibuzo yomzimba yomuntu eyakhiwe ngokuhamba kwesikhathi, futhi, ngokuvamile ephendula imibuzo yomthetho. Imibuzo efana nayo, ngubani owazala umntwana othile? Noma igazi laso litholakala kusikhali sokubulala?
Kusukela kuma-1950s kanye no-60s lapho i- DNA itholwe njengesisekelo samangqamuzana omuntu, futhi izakhi zofuzo zatholwa njengesisekelo se-DNA nokuzalwa, ngakho-ke, akukho muntu ababili owayenezici ezifanayo noma i-DNA, ososayensi baqaphela ukuthi bangaqala phendula eminye yale mibuzo. Isibonelo, uma behlola izakhi zofuzo zeqembu labantu ababenesifo esifanayo, bangafinyelela kwezinye iziphetho ngokufana kwezakhi zofuzo zabo, nokuthi kungani izakhi zabo zofuzo zihlukile kumuntu ongenawo leso sifo. Noma, uma bebala i-DNA yomuntu, bangayilinganisa ne-DNA yomunye umuntu futhi bazi ukuthi ngabe laba bantu ababili bahlobene yini.
Ngo-2003, i-Human Genome Project yaqedwa, futhi ososayensi bakwazi ukubona zonke izakhi zofuzo emzimbeni womuntu. Abanye ososayensi baqala ukubambisana ngezinkinga zezokwelapha ezibangela. Phakathi kwezinhlobo zokuqala ezithathelwana nezifo yizakhi zofuzo ze- BRCA , ezaziwa ukuthonya ukuthuthukiswa komdlavuza webele . Izindlela zokuthola izakhi zofuzo eziningi zenziwa nsuku zonke.
Njengoba lezi zinto zifunyanwa, ososayensi bangaqala ukubona ukuthi bathinta kanjani ukuthuthukiswa kwezifo noma izimo, futhi ngelinye ilanga bangakwazi ukwenza izindlela zokuvimbela lezo zakhi zofuzo ekudaleni lezo zinkinga zezokwelapha. Lezi yizinsuku zokuqala zemithi yokwenza umuntu . Imithi yokwenza umuntu isho ukwakheka kwezakhi zofuzo yilokho okuthonya izinyathelo zokuvimbela ukugwema izifo, noma izidakamizwa noma ezinye izindlela zokwelashwa ezifanelwe nomuntu ngokusekelwe kwezakhi zofuzo.
Yiziphi izinhlobo zezilingo ze-Genetic ezikhona?
Ezinye izivivinyo zezakhi zofuzo ziye zadlula amashumi eminyaka. Ukuhlolwa kwegazi, amathe, izinwele nesikhumba sekuye kwenziwa amashumi eminyaka ukuze kunqume konke okuvela ku- "whodunnit?" kuya kubazali.
Ezinye ziye zasetshenziswa iminyaka eminingana. Izivivinyo zokuhlola i-Genetic zingase zenzeke ngaphambi kokuba ingane ikhulelwe ukwenza izinqumo mayelana nokuthi inzalo yabazali iyoba lula ukuthuthukisa izifo ezithile noma izimo ezithile. Ngaphambi kokuqothulwa, owesifazane nowomuntu bazohlolwa kokubili ukuhlolwa kofuzo ukuze banqume ukuthi ingane yabo izoba nesifo sofuzo njenge-cystic fibrosis, i-sickle cell, noma isifo sikaHuntington. Uma bekwazi amathuba, bangakwazi ukucacisa ukuthi kufanele bakhulelwe yini lowo mntwana.
Namuhla izivivinyo ezintsha zakhiwa izinhlobo eziningi zezifo ezingahle zithuthukise ulwazi lwethu ngemlando yethu yezempilo futhi mhlawumbe zibikezela ikusasa lethu lempilo. Izivivinyo zenzelwe ukunquma ingozi yomuntu yokuthuthukisa isifo se-Alzheimer , ukucindezeleka kwegazi , noma umdlavuza wamaphaphu , noma isibonelo. Lezi zinhlobo zokuhlolwa zisencane, futhi iningi, ososayensi abavumelani nokuqondile kwabo.
Kungani Kukhona Imibuzo Ngemayelana Nezidingo Nezivivinyo Zokuvivinya I-Genetic?
Kunemibuzo embalwa kakhulu mayelana nokuthembeka kokuhlolwa kofuzo kobufakazi begazi, ukuhlonza umzali noma izinqumo zangaphambi kokubeletha ngoba zicacile futhi sezibonakalise ziwusizo.
Kuphakama imibuzo kulezo zivivinyo ezingakabonakali ukubaluleka kwazo. Ngisho nalapho isakhi singahambisana nesifo esithile, ngisho noma kungenqunywa ukuthi umuntu unayo leyo nguqulo yegesi, lokho akuqinisekisi ukuthi umuntu uzokuthuthukisa lesi sifo. Ngisho noma kungabonisa ukuthi omunye uzokuthuthukisa lesi sifo, angeke kube khona indlela yokushintsha leyo ntuthuko noma ngisho nokuphatha uma beyihlakulela. Lezo yizici ezithinta inani lokuhlola.
Ososayensi nabacwaningi basuke benesithakazelo ekuqinisekiseni ukuthi ukuhlola izakhi zofuzo kwenzeka njengoba behlakulela izindlela eziningi ngokwengeziwe kumuthi owodwa. Ukuhlolwa okunengi okukwenzekayo, ubufakazi obuningi ababenakho mayelana nezinqubo, izinqubo, kanye nokwelashwa okungase noma kungasebenzi.
Kodwa namuhla, kunenani elincane lezokwelapha ezigulini ukuze izakhi zofuzo zihlolwe ngokuphathelene nokuthuthukiswa kwezifo zesikhathi esizayo. Kunezimbalwa ezimbalwa-ezihloswe ekuboneni ibele kanye nezinye izifo zomdlavuza wesifazane, isibonelo. Ngokuhamba kwesikhathi, ukuhlolwa okusha, okucacile nakwezinyathelo ezilandelayo kuzokwakhiwa ngezifo nakwezinye izimo.
Ngakho-ke, kuphakama imibuzo ngokuthi noma ngabe umuntu kufanele abe nezakhi zofuzo ezihlolwe lezi zinhlobo zezifo namuhla. Uzofuna ukuqaphela izinzuzo nokuqeda ukuhlolwa kofuzo.
Yiziphi Izinzuzo Zokuhlola I-Genetic?
Kulawo mavivinyo asevele asetshenziswe njalo, njengama-paternity noma ukuhlolwa kofuzo ngaphambi kokubeletha, kunemiphumela emihle yombhalo. Babeka abantu ekulawuleni ulwazi olubasiza ukuba benze izinqumo eziqinile mayelana nekusasa labo ngokwempilo, ngokwezezimali nangokusemthethweni. Ukuba nololu hlobo lwolwazi olucacile luyisimo esiqondile kubantu abaningi.
Lokhu kuyiqiniso nakulezo zivivinyo zofuzo ezisetshenziselwa ezinye izibikezelo zesifo, njengokuhlolwa kwe-BRCA. Abesifazane abafunda ukuthi banezinkomba eziqondile kanye nethuba elihle lokuthi bazokwakha lesi sifo bangenza izinqumo ngokusekelwe kulolo lwazi.
Futhi yilokho okubaluleke kunazo zonke "i-pro" kwanoma yikuphi ukuhlolwa kofuzo-ulwazi. Uma ungumuntu ofuna nje ukwazi ngamathuba ukuze wenze izinqumo, ungase ufune ukuhlolwa. Isibonelo, ungase uhlolwe ama-genetic markers ngezifo ze-Alzheimer's. Uma ufunda umzimba wakho uzoba nomkhuba wokuthuthukisa izifo ze-Alzheimer's, ungase wenze izinqumo zokuvimbela eminyakeni yakho encane ukuze uzinike ithuba elihle kakhulu lokungawuthuthuki.
Omunye umphumela omuhle wukuthi ngokufaka izakhi zakho zofuzo zihlolwe, ulwazi lwakho luzofakwa kwisitatimende solwazi olungabelwa abacwaningi kanye nososayensi emhlabeni jikelele. Bafunda kabanzi mayelana nendlela yokusebenzisa lolu lwazi ukuthuthukisa ukwelashwa ukusiza izingane zethu, izingane zabo nokunye esikhathini esizayo. Eqinisweni, abanye abantu bazimisele ukuhlolwa ukuze baqhubekisele phambili isayensi, benethemba lokuthi kuzozuzisa inzalo yabo.
Kuyini Umonakalo Wokuvivinya I-Genetic?
Ngenxa yokuthi iningi lezwe lokuhlolwa kwezakhi zofuzo kanye nemithi eyenziwe ngomuntu yinto emisha kangaka, kusekhona imibuzo eminingi engakwazi ukubhekana nayo. Futhi, njengoba ukuhlolwa okuningi kofuzo kuphakamisa imibuzo eminingi, esikhundleni sokunikeza izimpendulo, kungase kube ngempela ukudala izinkinga eziningi kunokuba zixazulule. Ngaphezu kwalokho, kunezinkinga eziningi zomthetho nezokuziphatha ezihambisana nokuhlolwa kofuzo, eziningi zazo ezixhomeke ekubhekeni okungalungile.
Nanka imibuzo ephakamisa lezo zinkinga ezingenzeka:
- Izivivinyo zinembile kangakanani? Azikho izinyathelo zokunemba ezenzelwe iningi, ikakhulukazi, lezo ezibikezela ikusasa lakho lezempilo. Yisho ukuthi uhlolwe ukuthi kungenzeka yini umdlavuza wamaphaphu futhi ufunde ukuthi ungayithuthukisa ngelinye ilanga. Unquma ukungabhemi futhi awuyikuyihlakulela. Kodwa awukwazi ukuthi ngabe ukuhlolwa kwakungalungile noma akulungile ukuqala ngoba uthathe izinyathelo zokungazithuthuki.
- Ubani ongahumusha ulwazi? Udokotela angakuyala uvivinyo oluthile lwezakhi zofuzo, noma ungahle uzilandise wena ku-intanethi, noma ngisho nokuthenga eyodwa esitolo. Ubani ongabuyekeza imiphumela kuwe? I-Geneticists iqeqeshwe ukwenza leyo nguqulo, futhi uma nje uchitha isikhathi nomunye ukuze ufunde ukuthi imiphumela yusho ukuthini, ungafunda okuthile kubo. Kodwa odokotela abaningi abaqeqeshelwe ukuwaqonda. Uma imiphumela ifika e-mail, kuzodingeka wenze ucwaningo lwakho ukuze uqonde izimpendulo. Yiqiniso, lezi zincwadi zizofaka phakathi ukuphazamiseka ukuthi ukunemba akuqinisekisiwe. Ngaphezu kwalokho, kube khona amaphutha ekuhlolweni ngokwawo.
- Ubani onolwazi lofuzo? Kungenzeka kube nguwe, isiguli, kodwa ilawulwa ngabanye. Noma kungase kube ngabanikeli bokuhlola, lapho bekwazi ukwenza lokho abakufunayo - gcina, uyithengise, wabelane ngakho - noma yini abayifunayo. Kunemithetho embalwa kakhulu ethinta ulwazi lwezofuzo kuze kube manje. Imithetho ekhona, i-GINA, ikheli lokubandlulula kanye nekhodi yezofuzo kuphela.
- Ukwaziswa okuyimfihlo kanjani? Ngenxa yokuthi ukuhlolwa kusha kakhulu, imithetho ayitholakali ukuze inqume ukuthi ulwazi lungasetshenziswa kanjani, ngakho-ke noma ngabe imithetho ye-HIPAA yobumfihlo nokuphepha ingasetshenziswa yini.
- Uzokwenzenjani ngolwazi? Zimbalwa zalezi zivivinyo zokubikezela isifo ziveza imiphumela ephathekayo, ngezinye izindlela zokuvimbela isisindo sokuvimbela isisindo somuntu, hhayi ukubhema, ukuthola umzimba wokuzivocavoca kanye nabanye - zonke izinyathelo ezinhle kungakhathaliseki imiphumela yokuhlolwa kofuzo. Futhi ayikho yokwelashwa okuphakanyisiwe kokuningi kwalokhu kuhlolwa -ukuhlolwa okuzogcina kuholele ezenzweni eziqondene neziguli. Ngaphandle kokunciphisa okuncane, lezo zokwelapha ezenziwe ngezifiso azitholakali okwamanje.
Njengoba isikhathi siqhubeka, ukuhlolwa okuningi kuzokwakhiwa, kube nemithetho eminingi ezobhekana nayo, futhi imithi yokwenza umuntu ibe yindlela ephumelelayo yokuphatha abantu ngezinkinga zezokwelapha. Kodwa okwamanje, iziguli kumele zibukeze izinzuzo nezingozi zokuhlolwa kofuzo ngokwabo ukuze zithole ukuthi yisinyathelo esifanele kubo.