Xa i-market- time -to-consumer (DTC) ivela kwiimarike kuqala, i- Time yamaphephancwadi yababhiyozela njengokwakhiwa konyaka ngo-2008. Nangona kunjalo, phantse kwiminyaka elishumi kamva, ukuxhamla kwabo kubalulekile. Le teknoloji yezobugcisa yinxalenye yonyango elenziwe ngabanye. Ithembisa ukuqonda malunga neengcambu zezofuzo zempilo yethu, kunye nokusinceda senze izigqibo ezingcono.
Inombolo ekhulayo yeenkampani emhlabeni wonke ihambisa iikiti ze- DNA kwiimeko ezahlukeneyo nezifo. Abasebenzisi ngoku bayakwazi ukufikelela kwiingcaciso zabo zofuzo ngaphandle kokubandakanya ugqirha kunye / okanye inkampani yinshuwalense. Kodwa, ukwanelisa umdla wethu kunye neemvavanyo ze-genetic kwisigqibo esihle?
Nangona ukuvavanywa ekhaya kusetyenziswa indlela eninzi eyenza inzuzo, iingcali nazo ziyaxwayisa malunga nobungozi kunye nemingcipheko. Ngokuqhelekileyo, ezi mvavanyo zivelisa ulwazi olungaphelelanga okanye oluchanekileyo. Oku kukhanyeka ngakumbi kuba abathengi abasoloko beqonda kakuhle iziphumo zabo kwaye banokwenza izigqibo zempilo ezinzima ngaphandle kwekhokelo lobuchwepheshe. Ngaphezu koko, iimvavanyo zemizimba zibonelela ngokucacileyo.
Ukuze siqonde ngakumbi ukukhuselwa kwethu kwisifo, ezinye izinto kufuneka ziqwalaselwe ngokunjalo, njengendalo, imbali yentsapho kunye nokukhetha kwendlela yokuphila. Uninzi lweengcali ziyavuma ukuba iimvavanyo zokugqibela, ezinika abasebenzisi ulwazi malunga nomngcipheko wokuphuhlisa imeko yempilo, zinika iveli, iindlela zedemokhrasi yokuhlolwa kofuzo.
Nangona kunjalo, intsimi ihlala iguqulwe ngolwazi oluphikisanayo , kunye neengxoxo ezifudumeleyo phakathi kweenkampani kunye namaqela olawulo aqhubekayo.
Iimvavanyo ezizalisekayo kwiimvavanyo zokuhlaziya
Kwixesha elidlulileyo, sasiyazi kakuhle iimvavanyo zomzimba zokuzala, ezazisa ulwazi malunga neengozi yengane yengomso.
Ngoku, iimvavanyo zomntu siqu kunye neendlela eziqhelekileyo ziyaba zifana. Ukuhlolwa kwe-Presymptomatic inikezela ngolwazi malunga nelifa elizuze ilifa elinokuthi likhule kubantu abathwala i-gene. Ngokomzekelo, phantse bonke abantu abanama-40 okanye ngaphezulu okuphindaphinda kwicandelo le-CAG kwi-Huntington gene baza kuhlakulela isifo sikaHuntington (ukufikelela ngokupheleleyo). Ngaphandle kolunye uhlangothi, xela ngomngcipheko okhulayo wokuphuhlisa imeko ngenxa yokuguquka komzimba; ayikho into eqinisekileyo yokuba umntu ovavanywayo uya kuphuhlisa le meko kwikamva.
Iimvavanyo ze-DNA ekhaya-zithengiswa njengemvavanyo yomzimba kunye neenkqubo eziza kwenziwa ngaphandle kwenkqubo yokunakekelwa kwempilo kazwelonke. Ukuba uthatha le mvavanyo, kufuneka uqaphele ukuba iziphumo ngokuqhelekileyo azimnyama nomhlophe. Ininzi, abasebenzisi (kuphela) baya kufunda malunga nobungozi babo. Ngokweziphumo, banokufuna ukulungelelanisa ukuziphatha kwabo (umzekelo, batye ii-omega-3 fatty acids ngaphezulu) okanye bahambisane nokungenelela kwezonyango (umz.
Usebenza njani kwi-Home Home Genetic Test?
Emva kokuba uthenge uvavanyo lwezityalo zofuzo lwe-DTC, umgaqo-nkqubo wokuvavanya ngokubanzi ufuna ukuba uthathe isampuli yamathe okanye i-swab evela ngaphakathi kwesitram.
Ngaphandle koko, unokufuna ukutyelela iklinikhi yezempilo ukunika isampuli yegazi. Isampuli ithunyelwa kwiinkampani zokuvavanya kwaye emva kweentsuku ezimbalwa ukuya kwiiveki ezimbalwa, ufumana iziphumo zohlalutyo lwe-DNA kwimo yengxelo.
Iimvavanyo ze-DNA ekhayeni zinganika ulwazi oluninzi, ukusuka ekuthintekeni kwakho kwisifo kunye nesimo senkonzo (ingozi yokudlulisa i-disorder kwi-seed) kwizibikezelo zobuninzi kunye nohlobo lwe-earwax. Ukugqithiswa kakhulu kwimivavanyo ye-nutrigenetic, enokukunika ukutya okunokuthi uhambelana nawe ngokusekelwe kwi-DNA yakho.
Iindleko zovavanyo lwe-Genetic ziyancipha
Nangona i-genome yonke ilandelelana (WGS) isabiza, ukhetho oluthengathengekayo luyafumaneka.
Ngokomzekelo, kunokwenzeka ukuba ukhethe i-nucleotide polymorphism (SNP) yokwenza iindleko ze-nucleotide (SNP) ezenza iindleko zokusebenzisa i-nucleotide, ibalaphu kuphela iindawo ze-genome ezinxulumene nezifo. I-SNP i-genotyping inganika uqikelelo lomngcipheko wakho wokuphuhlisa iimeko ezithile.
Abahlalutyi bezeShishini beSizwe baqikelela ukuba ngo-2018, iimarike zomhlaba wonke ekuvavanyweni kwe-genetic kwi-home ziza kufinyelela ngaphezu kwezigidi ezingama-233 ezigidi. Iinkampani ezintathu zokuqhuba uvavanyo lwe-DTC zithathwa njengama-23, kunye ne-Family Tree DNA kunye ne-Ancestry. Ngo-2017, u-23 kunye noMeyikuqala ukufumana imvume ye-FDA ukwenza uhlalutyo lwe-DNA kwiimeko ezili-10 ngaphandle kokubandakanyeka kukagqirha.
Iinkampani ze-DTC zikhuthaza kakhulu iinkonzo zabo zokuzalwa. Iipakethi zolu hlobo lwenkonzo ziyafumaneka kwi-$ 100. Kubandakanya ulwazi lwezobugcisa ngokubanzi luzisa iindleko, umzekelo, 23nje ngoku kunikezela ngonyango lwezokwelapha + lwe-$ 199. Uninzi lweenkampani ze-DTC alinikeli iinkcukacha ezipheleleyo zeWGS.
Uvavanyo lwe-Genetic At Home vs. Testing kwi-Ofisi ye-Doc
Enye inzuzo yeemvavanyo zasekhaya ezibhenela abaninzi abathengi kukuba ayaziwa. Iziphumo azizenzeki ngokuzenzekelayo inxalenye yengxelo yakho yezokwelapha. "Ukucalulwa kwe-Genetic" into engakhange iqondwe ngokucacileyo. Ngokufanelekileyo, abanye abantu bakhathazeke ngengozi yokungacaluliyo olu hlobo lovavanyo olunokuthwala (umz. Ukusetyenziswa ekunyuseni iiproyamu zomshuwalense wobomi). Ukususela ngo-2009, uMthetho woLwazi lweNondiscrimination Information (Genetic Information Nondiscrimination Act) luye lwaseMelika, kodwa kukho iifowuni zakutshanje ukuyiqinisa. Ngoko ke, abaninzi bajonga iimvavanyo ezizimeleyo njengendlela yokugcina ulwazi lwabo lofuzo lwabucala.
Ukuhlolwa kwe-DTC kuye kwathengiswa njengendlela ekwazi ukukunika ulawulo phezu kwezinto zakho zempilo. Nangona kunjalo, uphando lubonisa ukuba abantu banokuqaphela ukuhlolwa kofuzo okungenziwanga ngabaqeqeshi bezempilo abaqeshwe kumaziko karhulumente. Ukungabikho komgaqo-karhulumente kunye nokuchazwa okungaqondakali kolwazi lwezofuzo kuye kwakhankanywa njengeengcambu ezimbini ze-DNA kwikitshi. Kwakhona, ukhuseleko lwabathengi luye lwaba lixhalaba. Abathengi baye babonisa ukwesaba ukuba idatha yabo ingafumaneka kwiinkampani okanye zisetshenziselwe uphando olungakumbi ngaphandle kolwazi lwabo.
UmNjingalwazi onxulumene noChristin Critchley waseYunivesithi yase-Swinburne e-Australia kunye nabalingane bakhe baseYunivesithi yaseTagmania bavavanya isimo sengqondo sika-Australia malunga neemvavanyo zofuzo lwe-DTC. Babenomdla wokwazi ukuba ngaba abantu bawajonga ngokufanayo neemvavanyo zofuzo eziyalelwe ngabaqeqeshi babo bezempilo. Iziphumo zabo zibonisa ukuba abantu ngokubanzi babelana ngokuxhalabisa ngeengcaphephe zezofuzo malunga ne-DTC iimvavanyo zofuzo kwaye azinakwenzeka ukuba zenzele enye. Abathengi ekufundeni babe neengxaki ezibandakanya ukuphulwa ngasese kunye nokungabikho kokucebisa, kunye nokuchaneka okufutshane ngokuthelekiswa neemvavanyo zofuzo eziyalelwe oogqirha. Ngakolunye uhlangothi, izifundo zangaphambili eUnited States naseRashiya babonise isimo sengqondo esiphezulu ngokuthenga iimvavanyo zofuzo zentengiso. AmaMerika kunye namaRashiya kubonakala ngathi anakho ukulungiselela iimvavanyo ezinjalo kwi-intanethi.
U-Andelka Phillips ovela kwi-Faculty of Law yaseYunivesithi yase-Oxford naye ubhala malunga nemingeni yomthetho ye-intanethi yokuhlola uvavanyo lwe-genetic jikelele. U-Phillips uyaphawula ukuba nayiphi na inkqubela ekukhuselweni kwedatha kunye nokukhuselwa kolwazi kuya kufuna ukusebenzisana ngamazwe ngamazwe.
Ukuchaneka kunye noKhuseleko oluPhezulu lweeNzululwazi zaseMakhaya
Ikhono lokuchaneka ngokuchanekileyo kunye nokuthembeka ngokucacileyo ukuba khona (okanye ukungabikho) kwesifo kuye kwaba yinto ebalulekileyo malunga nokuhlolwa kwekhaya. Abanye abathengi babika iziphumo ezahlukeneyo kwiinkampani ezahlukeneyo ze-DTC. Iqela lezenzululwazi zezofuzo ezivela kwi-J. Craig Venter Institute kunye ne-Scripps Translational Science Institute zenzele ukuthelekisa ngokuzimeleyo kweesampuli ezinhlanu ezihlalutyiweyo ngu-23 kunye neMeigenics.
Ngelixa iziphumo zabo zibonisa ukuba ukuchaneka kweziphumo ezinobungakanani bekuphezulu, iinkampani ezimbini zahluke kwiimeko zokubikezela umngcipheko wezofo kubantu abanjalo. I-Navigenics kunye nama-23 ayavumelana kuphela kwizibini ezithathu kwisibonakaliso malunga nomngcipheko wongxaki. Isivumelwano sokubikezela sasiphilile kwezinye izifo kunabanye. Ngokomzekelo, zombini iinkampani ziyavumelana xa kuqikelelwa umngcipheko wesifo se- celiac . Ngokwahlukileyo, izifo ezisixhenxe-kuquka i-Crohn's disease, uhlobo lwesifo sikashukela nesifo senhliziyo-isivumelwano siyi-50 ekhulwini okanye ngaphantsi.
Abaphengululi bathi le nto ingavumelani nokusetyenzwa kwamakishi nganye kwinkampani esebenzayo kubalo. Iimpawu zokumakisha ezibandakanyekayo zingadibanisa; Ngoko ke, iziphumo azifani ngokufanayo. Kwezinye iimeko, izibikezelo zaziphelelane-enye inkampani yabikezela ingozi eyongeziweyo yimeko, ngelixa elinye liphakamisa umngcipheko.
Uninzi lwe-DTC ababoneleli bokuhlola iimpawu zofuzo basebenza ngaphandle kwenkqubo yononophelo lwempilo. Iilabhu zabo azilawulwa kwaye kwiimeko ezininzi, iziphumo azikho ukufaneleka kwekliniki kunye nokusebenza. Ukungalungi kunokuba nemiphumo ebalulekileyo. Ngokomzekelo, ukubikezelwa kwengozi ephantsi kunokukunika ingqiqo yecandelo lokhuseleko, ukuchaphazela kakubi indlela ophila ngayo. Asisayiqonda into efanelekileyo yokufakelwa kwengcinezelo kwisifo sengozi, ngoko ukucinga ukuba omnye kwindawo ekhuselekileyo inokulimaza. Ngoko ke, iingcali zibonisa ukuba kwixesha elizayo, kufuneka kube nokubandakanyeka ngakumbi kubaqeqeshi bezempilo kunye nolwazi olungakumbi loorhulumente ukwenzela ukwandisa ukhuseleko nokuthembeka.
Indlela Yokujongana Neziphumo Ezimbi
Xa uvavanyo lofuzo luyalelwe ngugqirha, isiguli sisoloko sifumana ukululekwa kwangaphambi kokuvavanya. Nangona oko iinkampani ze-DTC zovavanyo zofuzo zihlala zivakalisa kwiiwebhsayithi zazo, inkxaso efanelekileyo yolwazi ayinakunikezelwa kubaxumi babo.
Abanye abaphandi baye bachaza iingxaki malunga neengqondo kunye nendlela yokuziphatha yokuhlolwa kofuzo. Umzekelo, ukufumana ukuba unomngcipheko okhulayo wokuba nomhlaza kunokukwenza ube nexhala okanye uxinezeleke (nangona ungeke ufumane umhlaza). Iziphumo zovavanyo zingabonakalisa ulwazi nakwamanye amalungu entsapho angenakufuna ukwazi.
Nangona kunjalo, uphando oluthile lubonisa ukuba ukufumana iziphumo ezingalunganga kungabangela ukuba umonakalo wengqondo. UDkt. Lidewij Henneman weYunivesithi yaseVrije e-Amsterdam waphetha ukuba ukuhlolwa kofuzo kuhambelana nokunyamezeleka kwaye emva kokufumanisa, abantu baya kubuyela kwimpembelelo yabo yangaphambili. UHenneman wachaza ukuba ukufunda nokufunda ukufunda kusekho phantsi kwabathengi. Abanye abantu banokuthi bavelele amathuba okufumana isifo, esichaza ngokuthi "ukuguquka kwemvelo."
ILizwi
Uninzi lweengcali zonyango zichaza ukuba ukuhlolwa kofuzo kufanele kwenziwe kuphela xa kukho uphawu lwezokwelapha; Ngokomzekelo, imbali yentsapho yengxaki okanye nokuba neqabane eliphethe umphathiswa. Imibuzo yokuziphatha ijikeleze ukuvavanya i-genetic yabantwana, umzekelo, ukuvavanya ngokunyanisekileyo kweetalente zabantwana. Ngokwe-European Society of Human Genetics, ukuhlolwa kofuzo kumntu ongenakho ukunika imvume kufuneka kwenziwe kuphela ukuba kunenzuzo ngqo kuye. Ukuvavanya ukunyamekela kumntwana kufuneka, ngoko ke, kuyenze kuphela ukuba kukho ingozi eyaziwayo yokufumana isifo kwaye, nangona kunjalo, kuphela ukuba ukhetho lwezokwelapha okanye lokuthintela lukhona. Abanye bathi le migangatho yokuziphatha imele ifanele ibenze kubantu abadala ngezizathu ezifanayo.
> Imithombo:
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> Critchley C, Nicol D, Otlowski M, Chalmers D. Ukusabela komphakathi kwiimvavanyo zomzimba ezixhomekeke kumsebenzisi-mboleki: Ukuqhathanisa isimo sengqondo, intembelo kunye neenjongo kubanikezeli bezorhwebo nabaqhelekileyo. UkuQondwa koLuntu kweSayensi , 2015; 24 (6): 731-750.
> Ng P, Venter J, Murray S, Levy S. I-ajenda yonyango lomntu. Uhlobo , 2009; 461 (7265): 724-726.
> Phillips A. Kuqakraza kuphela - i-DTC i-genetics yokhokho, impilo, uthando ... nokunye: Umbono wezoshishino kunye neemeko zokulawula. I-Genomics esebenzisiweyo kunye noguqulelo , 2016; 8: 16-22.
> U-Su P. Ukuvavanywa kwe-Genetic Testing Consumer: Ukujonga okupheleleyo. I-Yale Journal ye-Biology kunye neMedicine . 2013; 86 (3): 359-365.
> Vrecar I, uPeterlin B, iTeran N, uLovrecic L. Ukuhlolwa kobugcisa bezityalo ngokubhekiselele kwiSlovenia: ukutholakala, ukuziphatha kwemithetho kunye nemithetho. Biochemia Medica , 2015; 25 (1): 84-89.