Njengoko izenzululwazi neziphumo zonyango zisinceda siqonde indlela ukuveliswa kwemizimba yethu kuchaphazela ngayo imizimba yethu kunye nempilo yethu, iimvavanyo ezitsha ziye zaphuhliswa ukunceda abantu bazi ukuba iizakhi zazo zihambelana nezifo okanye imeko ezithile. Abantu baye baqala ukuzibuza ukuba ngaba kufuneka bafumane ukuhlolwa kofuzo . Esi sinqumo singenziwa ngokuqonda ukuba ziphi iimvavanyo zofuzo zizonke kwaye zihlolisise iingxaki kunye neengxaki zokuhlolwa kofuzo.
Kutheni Uhlalutya Iimvelaphi Zesizwe?
Amawaka eminyaka, imizimba yabantu ikhulise izifo okanye iimeko kunye nolwazi oluncinane malunga nokuba kutheni. Kutheni enye ibhinqa iveza umdlavuza webele, kodwa enye ingenayo? Kutheni umntu omnye ehlakulela isifo sikaParkinson , kodwa enye ingenzi? Nangona iimeko zokusingqongileyo zingachaza inxalenye yebali, kwaqatshelwa ukuba kufuneka kukho into emalunga nomzimba womntu owaba negalelo ekuphuhlisweni kwezi ngxaki zonyango.
Ukuphuhliswa kokuqala kwenzululwazi yezokwelapha kwakujoliswe ekuqinisekiseni ukuba izifo kunye neemeko zinokuphiliswa okanye ziphiliswe. Ngexesha elidluleyo kwiminyaka engama-50 okanye engama-60, isayensi yaqalisa ukujonga ukuveliswa kwemfuza yomntu njengendlela yokuphendula imibuzo ebalulekileyo malunga nokuba kutheni abantu bahluke ekuphuhlisweni kwezi ngxaki.
Eminye imibuzo yomzimba yomntu yaphuhliswa ngokuhamba kwesikhathi, kwakhona, ngokuphindaphindiweyo ekuphenduleni imibuzo yomthetho. Imibuzo enje, ngubani owazala umntwana othile? Okanye igazi lalo lifunyenwe kwisixhobo sokubulala?
Ukususela kuma-1950 kunye nama-60 xa i- DNA yafunyanwa njengesiseko seeseli zabantu, kwaye izazi zegazi zafunyanwa njengesiseko se-DNA kunye ne-heredity, ngoko ke akukho bantu ababini babenalo i-gene okanye i-DNA efanayo, izazinzulu ziyazi ukuba ziqala uphendule enye yale mibuzo. Ngokomzekelo, ukuba bahlolisise i-genetic makeup yeqela labantu ababenesifo esifanayo, bangafikelela kwizigqibo ezithile malunga nokufana kwezifo zabo, nokuba kutheni amajeni abo ahluke nomntu ongenalo sifo. Okanye, ukuba bafaka imephu yeDNA yomntu, bayayiqhathanisa nomnye umntu weDNA kwaye bazi ukuba ngaba bantu babini bahlobene.
Ngo-2003, iProjekthi ye-Human Genome yagqitywa, kwaye izazinzulu zakwazi ukufumanisa yonke imfuza emzimbeni womntu. Ezinye izazinzulu zaqala ukuzibamba ngeengxaki zonyango abazibangelayo. Phakathi kwezifo zokuqala ezibonakalayo zezifo ziyi-gene ze- BRCA , ezaziwa ngokuba nefuthe ekuphuhliseni umdlavuza webele . Ukuqatshelwa kwamanani omtsha-izifo zenziwa rhoqo imihla.
Njengoko ezi zibini zifunyenwe, izazinzulu ziyaqala ukubona indlela ezichaphazela ngayo ukuphuhliswa kwezifo okanye iimeko, kwaye ngethemba, ngolunye usuku uze uhlakulele iindlela zokumisa ezo zengqungquthela kwiindawo zazo zokudala iingxaki zonyango. Le yimihla yokuqala yonyango . Iyeza elenziwe ngumntu lithetha ukuveliswa kwemfuzo yomntu yintoni echaphazelayo amanyathelo okukhusela ukukhusela izifo, okanye iziyobisi okanye ezinye izibonelelo zonyango ezixhomekeke kumntu ngokusekelwe kwimizimba yazo.
Ziziphi iintlobo zeeMvavanyo zoGenesis ezikhoyo?
Ezinye iimvavanyo zezofuzo ziye zadlulayo iminyaka emashumi. Ukuvavanywa kwegazi, i-saliva, iinwele kunye nesikhumba sele zenzelwe amashumi eminyaka ukucacisa yonke into ephuma "whodunnit?" kubantwana.
Amanye asetyenziswe iminyaka emininzi. Iimvavanyo zokuhlola i-Genetic zenzeke ngaphambi kokuba umntwana ekhulelwe ukuba enze izigqibo malunga nokuba inzala yabazali iya kulungele ukuphuhlisa izifo okanye imeko. Ngaphambi kokusatshalaliswa, ibhinqa kunye nomntu baya kuhlola uvavanyo lwezofuzo ukuqinisekisa ukuba okanye umntwana wabo uya kuhlakulela isifo somzimba njenge-cystic fibrosis, isalle cell, okanye isifo sikaHuntington. Xa bekwazi amathuba, banokuqonda ukuba ingaba bafanele balelwe umntwana.
Namhlanje uvavanyo olutsha luye lwaphuhliswa kwiintlobo ezininzi zezifo ezinokuphucula ulwazi lwethu lweembali zethu zempilo kwaye mhlawumbi ziqikelele ikusasa lethu lempilo. Uvavanyo luye lwaphuhliswa ukuze lube nomngcipheko womntu wokuphuhlisa isifo se-Alzheimer , uxinzelelo oluphezulu lwegazi , okanye umhlaza womphunga , okanye umzekelo. Ezi ntlobo zeemvavanyo zisencinane, kwaye ininzi, izazinzulu azivumelani nokuchaneka kwazo.
Kutheni Kukhona Imibuzo Ngeziphumo Neengxaki Zokuhlolwa Kwemvelo?
Kukho imibuzo embalwa malunga nokuthembeka kovavanyo lwezofuzo kubungqina begazi, ukuchongwa kwabazali okanye izigqibo zokuqala ngaphambi kokuzalwa ngenxa yokuba zichanekile kwaye sele zibonakalise zisebenzisekile.
Imibuzo ivela kwiimvavanyo ezingakhange zibonise ixabiso. Nangona i-gene ingadibaniswa nesifo esithile, kwaye nangona ingaqulunqwa ukuba umntu unaloo nguqu yegenesis, engaqinisekisi ukuba umntu uya kuhlakulela eso sifo. Nangona oko kungabonisa ukuba umntu uya kuhlakulela eso sifo, kunokungabi nanye indlela yokuguqula olo phuhliso okanye ubenokuyiphatha xa beyihlakulela. Ezi zizinto ezichaphazela ixabiso leemvavanyo.
Inzululwazi nabaphandi banomdla kakhulu ekuqinisekiseni ukuba ukuhlolwa kofuzo kuqhutyelwa njengoko behlakulela iindlela ezininzi nangakumbi kwiyeza elenziwe ngabanye. Ukuvavanya okwenzekayo, ubungqina obuninzi malunga neenkqubo, iinkqubo kunye neyeza zonyango ezingasebenza okanye ezingasebenzi.
Kodwa namhlanje, kunenani elincinci lezonyango kwizigulane ukuba zihlolwe iigeni zazo malunga nokuphuhliswa kwesifo esizayo. Kukho izinto ezimbalwa-ezijoliswe ekuboneni ibele kunye nezinye iisetyana zomhlaza, umzekelo. Ngokuhamba kwexesha, amatsha, iimvavanyo ezichanekileyo kunye namanyathelo alandelayo aya kuphuhliswa kwizifo nezimo ezininzi.
Ngako-ke, kuphakama imibuzo malunga nokuba ngaba umntu akufanele abe neengcambu zakhe ezihlolwe ezi ntlobo zezifo namhlanje. Uya kufuna ukuqonda i-pros and cons to testing tests.
Ziziphi iinjongo zovavanyo lweGenesis?
Kule mvavanyo esele isetyenziswa ngokuqhelekileyo, njengobuncwane okanye ukuhlolwa kofuzo lwangaphambi kokubeletha, kukho iziphumo ezintle zengxelo. Babeka abantu ekulawuleni ulwazi olubanceda benze izigqibo ezinzulu malunga nexesha labo elizayo, ngokusemthethweni nangokwemali. Ukuba nolwazi oluchanekileyo luhlobo olucacileyo kubantu abaninzi.
Oku kuyinyaniso nakwiimvavanyo zezofuzo ezisetyenziselwa ezinye izibikezelo zezifo, ezifana nokuhlolwa kwe-BRCA. Abasetyhini abafundayo banezibonakaliso ezithile kunye nethuba elihle lokuba baya kuphuhlisa eso sifo bangenza izigqibo ngokusekelwe kulolo lwazi.
Kwaye oko kubaluleke kakhulu "kwiprogram" kwiphina i-test-knowledge-gene. Ukuba ungumntu ofuna nje ukwazi malunga namathuba ukuze wenze izigqibo, ngoko ufuna ukuvavanywa. Ngokomzekelo, unokuba uvavanyo lweempawu zezofuzo ze-Alzheimer's's disease. Ukuba ufunda umzimba wakho uya kuba nethuba lokuphuhlisa izifo ze-Alzheimer's, ungenza ukhetho olukhuselekileyo kwiminyaka yakho emncinci ukunika ithuba elihle lokungawuchule.
Enye enye imiphumo emihle kukuba ukuba iifayile zakho zihlolwe, ulwazi lwakho luya kufakwa kwiziko leenkcukacha ezingabelana ngabaphandi kunye nososayensi emhlabeni jikelele. Bafunda ngokubanzi malunga nendlela yokusebenzisa olu lwazi ukuphuhlisa unyango ukunceda abantwana bethu, abantwana babo kunye nokunye esikhathini esizayo. Enyanisweni, abanye abantu bazimisele ukuvavanya nje ukuqhubela phambili isayensi, benethemba lokuthi baya kuzuza inzala yabo.
Ziyintoni i-Cons Cons of Genetic Testing?
Ngenxa yokuba ezininzi zehlabathi zovavanyo lwezofuzo kunye neyeza ezenziwe ngabanye zintsha, kunemibuzo emininzi ayinakuyenza. Kwakhona, ekubeni iimvavanyo ezininzi zofuzo ziphakamisa imibuzo engakumbi, endaweni yokunika iimpendulo, inokwenene idale iingxaki ezininzi kunokuba ixazululwe. Ukongezelela, kukho imilinganiselo yezomthetho neyokuziphatha echaphazela ukuvavanywa kwemizimba, eninzi incike kwizinto ezimbi.
Nayi le mibuzo ephakamisa iingxaki ezinokuthi:
- Iimvavanyo ezichanileyo? Ayikho imilinganiselo yokuchaneka eninzi inxaxheba, ngokukodwa, abo baqikelela ikusasa lakho lempilo. Yithi uhlolwe ukuba unomdlavuza wemiphunga uze ufunde ukuba unokuhlakulela ngolunye usuku. Unquma ukungafumi kwaye awuyi kuwuhlakulela. Kodwa awukwazi ukuba ngaba uvavanyo lukulungile okanye lungalunganga ukuqala ngoba uthathe amanyathelo okungawuphuhlisi.
- Ngubani onokuguqulela ulwazi? Ugqirha unokuyalela uvavanyo oluthile lomzimba, okanye unokuyilungisa ngokwakho kwi-Intanethi, okanye ukuthenga enye esitolo. Ngubani onokuziphonononga iziphumo kuwe? I-Geneticists iqeqeshelwa ukwenza loo nguqulelo, kwaye xa nje usebenzisa ixesha kunye nokufunda ukuba zeziphumo zithini, unokufunda okuthile kubo. Kodwa oogqirha abaqeqeshelwa ukuba baqonde. Ukuba iziphumo zifika kwi-imeyile, kuya kufuneka wenze uphando lwakho ukuqonda iimpendulo. Ngokuqinisekileyo, amaphepha aya kubandakanya abachasayo ukuba ukuchaneka akunakuqinisekiswa. Ngaphezulu, kukho iimpazamo ekuzivivinyeni ngokwayo.
- Ngubani ophethe ulwazi lofuzo? Ingaba ngumnini wakho, isigulane, kodwa ilawulwa ngabanye. Okanye unokuba ngumnini-velisi bokuvavanya, apho banokukwenza oko bafuna khona - gcina, uthengise, wabelane ngawo-nantoni na ayifunayo. Kukho imithetho embalwa kakhulu echaphazela ulwazi lwezofuzo ngoku. Imithetho ekhoyo, i-GINA, idibanisa ubandlululo kunye nekhowudi yemfuza kuphela.
- Ubungakanani benkcazelo eyimfihlo? Ngenxa yokuba ukuvavanya kutsha, imigaqo ayisayi kubakho ukuqinisekisa ukuba ingcaciso ingasetyenziselwa njani, ngoko ke nangona i-HIPAA yobumfihlo nemithetho yokhuseleko iya kusetyenziswa.
- Uza kwenza ntoni ngolwazi? Izimbalwa zezi ziphumo zengxelo yokugula zivelisa iziphumo ezinokuthi zenzeke, kunye neendlela ezikhuselekileyo zokuthintela isisindo somzimba, ukungabhiyi, ukufumana umthamo wokuzivocavoca kunye nabanye - onke amanyathelo amhle ngaphandle kokufumana iziphumo zokuhlolwa komzimba. Akukho zonyango ezicetyiswayo uninzi lwale mvavanyo-ezi vavanyo eziza kubakhokelela kwiindlela ezizimeleyo zezigulane. Ngaphandle kwemibandela embalwa, ezo zonyango zodwa azifumanekanga okwamanje.
Njengoko ixesha liqhubeka, iimvavanyo ezininzi ziya kuphuhliswa, imithetho emininzi iya kudalwa ukuze idibane nabo, kwaye unyango olumntu luya kuba yindlela efanelekileyo yokuphatha abantu ngenxa yeengxaki zonyango. Kodwa ngoku, izigulane kufuneka zihlolisise iimpawu kunye neengxaki zokuhlolwa kofuzo ngokwabo ukuba zenze isigqibo sokuba ingaba isinyathelo esifanelekileyo kubo.