Amfani da masu ba da shawara na kwayoyin halitta vs gwaje-gwaje a gida: makomar gwajin kwayoyin halitta

A cikin 2013, Angelina Jolie ta gabatar da jama'a don tantance kwayoyin halitta lokacin da ta yanke shawarar yin mastectomy sau biyu. Ta zaɓi yin tiyata saboda ta gwada ingancin maye gurbi a cikin kwayar halittar BRCA, jinsin jinsin da ke da alaƙa da haɓakar damar ciwon daji (Jolie). A haƙiƙa, kasancewar bambance-bambancen BRCA1 ko BRCA2 yana ƙara haɗarin kamuwa da cutar kansar nono da shekaru 80 daga 12% zuwa 72% da 69%, bi da bi (Cibiyar Ciwon Kankara ta Ƙasa). Ta fuskanci wannan rashin daidaito, Jolie ba kawai ta shiga cikin wuka ba, amma ta kuma rubuta editan ra'ayi ga New York Times tana kira ga mata da su biya don tantance kansu don yiwuwar kamuwa da cutar kansa. Wannan ya haifar da wani sabon abu da aka sani da "Jolie Effect," inda aka samu karuwar yawan matan da suka yi gwajin kwayar cutar kansar nono. 

Yanzu, za mu iya ganin wani karuwa a cikin binciken kwayoyin halitta - amma a wannan lokacin, ba tare da masu ba da shawara ga kwayoyin halitta ba. Tun daga watan Afrilu 2017, FDA yanzu ta ba da izinin sayar da gwaje-gwajen kai tsaye-zuwa-mabukaci (DTC) don haɗarin kwayoyin cutar Parkinson, marigayi-farkon Alzheimer, da Celiac Disease, da sauransu (FDA 2017). Kwanan nan, FDA ta kuma ƙyale kamfanin gwajin DNA na 23andMe ya ba da gwajin ciwon nono ta hanyar gwaji ga kwayoyin BRCA1 da BRCA2 (FDA 2018). Wannan canjin ƙa'ida yana da yuwuwar canza yadda muke samun gwajin ƙwayoyin halittarmu gaba ɗaya. Don haka, wani batu na jayayya shine ko ya kamata mu ba da shawarar masu ba da shawara ga kwayoyin halitta don gwaje-gwajen kwayoyin halitta, sabanin samfurin DTC mafi samun dama. Kamar yadda yake a halin yanzu, gwaje-gwajen kwayoyin halitta kai tsaye-zuwa-mabukaci da alama suna da fa'idodi fiye da rashin lahani.

Ta yaya gwajin DNA ke aiki?

Kunshin kunci da kamfanonin gwajin kwayoyin halitta suka tambaye ka ka goge ƙananan ƙwayoyin fata. Saboda haka, waɗannan kamfanoni za su iya rushe tsakiya, inda aka adana DNA, kuma su maimaita wannan DNA ta hanyar da ake kira PCR don samun kwafi dubu da yawa. Ba sa karanta dukkanin kwayoyin halittar ku-wanda zai dauki lokaci mai tsawo-maimakon, ma'aikata a kamfanonin gwajin DTC suna neman tsari a takamaiman wuraren DNA na ku. Wannan tsarin zai nuna irin bambancin jinsin da kuke da shi.

Gwajin DTC ba su da ƙarancin kuɗi da tsoratarwa ta zamantakewa

Ɗaya daga cikin manyan fa'idodin gwajin DTC shine cewa yana rage nauyin kuɗi a baya da ke hade da gwajin kwayoyin halitta. A cikin Cibiyar Kiwon Lafiya ta Johns Hopkins, alal misali, gwajin ƙwayar cuta na gabaɗaya yana kashe $ 3,400, kuma gwajin takamaiman maye gurbi kamar bambance-bambancen BRCA yana kusan $500 (Brown). A kwatankwacin, kunshin gwajin "Hatsarin Kiwon Lafiyar Halittu" daga 23andMe farashin $199 (23andMe). Ƙarfin samun damar kwayoyin halitta kai tsaye shine cewa masu amfani suna biyan kuɗi kaɗan.

Batutuwan kuɗi da aiki na buƙatar ƙwararrun likita don gwajin kwayoyin halitta suna hana yawancin mutane yin waɗannan binciken. Masu ba da shawara kan kwayoyin halitta sau da yawa suna da koma baya na abokan ciniki, musamman ma da yake buƙatar gwajin kwayoyin halitta yana girma da sauri fiye da tafkin masana. A gaskiya ma, binciken ya gano cewa buƙatar mai ba da shawara na kwayoyin halitta yana hana marasa lafiya samun gwajin kwayoyin halitta a cikin yanayin ciwon nono - gwajin sokewar gwajin ya tashi daga 13.3% zuwa 42.1% lokacin da ake buƙatar masu ba da shawara don nunawa ga BRCA1/2 (Whitworth et al) . Ƙungiyoyin da ke cikin zuriyar Afirka ko Latin Amurka suna da ƙimar sokewa sama da kashi 49%. Don haka, buƙatar yin amfani da masu ba da shawara ga kwayoyin halitta don ba da shawara ga kwayoyin halitta ba wai kawai yana hana iyalai masu karamin karfi ba, har ma yana iya kashe tsiraru, wanda ya sa ƙungiyoyin su kasance da rashin sanin haɗarin cututtuka na kwayoyin.

Matsaloli masu yiwuwa

Masu sukar gwajin kwayoyin halitta na DTC suna jayayya cewa ana buƙatar ƙwarewar masu ba da shawara ta kwayoyin halitta don majiyyaci ya fi fahimtar haɗarin su kuma ya ɗauki matakan da suka dace don rage shi. Erica Ramos, shugaban jama'a na mashawarar kwayar halitta, ya ce wadannan shawarwari masu tsada sun wajaba saboda abin da sakamakon zai iya gaya musu, gano wasu asibitoci gwaje-gwajen da za a iya buƙata bisa tarihinsu kuma su fahimci yadda waɗannan sakamakon zai iya shafar su da danginsu" (NSGC).

Binciken da ake yi na yanzu ya saba wa ko a zahiri ba da shawarar kwayoyin halitta na da wani fa'ida. A gefe guda, wani bincike da Amanda Singleton ya gano cewa abokan cinikin da suka sayi gwaje-gwajen DTC na iya yin kuskuren fassara sakamakon ko dai su sami ma'anar tsaro ta ƙarya ko haɓaka yawan damuwa (Singleton et al). Kashi na kashi na haɗarin cuta ba garantin cewa mutum zai ci gaba da wannan cutar daga baya ba, tunda cututtukan ƙwayoyin cuta suma suna tasiri ta hanyar abubuwan muhalli, kamar carcinogens, alal misali. Matsayin masu ba da shawara akan kwayoyin halitta ne su fassara tarihin iyali da sauran al'amuran rayuwar majiyyaci don tantance ainihin haɗarinsu.

A gefe guda, nazarin binciken da yawa ya gano cewa shawarwarin kwayoyin halitta game da ciwon daji na iyali ba shi da wani tasiri mai mahimmanci akan hangen nesa, damuwa na gaba ɗaya, damuwa na gaba ɗaya, ko damuwa (Braithwaite et. al). Ko da yake an sami karuwar ilimin game da cututtuka daban-daban, marasa lafiya ba su da wani motsin rai kuma ba su canza halinsu ba don mayar da martani ga wannan sabon ilimin. Bisa ga wannan binciken, kasancewar mai ba da shawara akan kwayoyin halitta ba zai sami wani tasiri mai dorewa ba.

Yadda za a ci gaba

Duk da haka, ya kamata kamfanonin gwajin kwayoyin halittar DTC su kula kada su faɗi sakamakonsu ta hanyar da ba ta dace ba. Nazarin daga Ofishin Ba da Lamuni na Gwamnati da kuma kimanta aikace-aikacen Genomic a cikin Ayyuka da ƙungiyoyin ma'aikata na rigakafin sun gano cewa kamfanoni da yawa sun yi amfani da kalmomin da ba su da fa'ida wanda zai iya haifar da rudani (Singleton et al.). Hakazalika, sabon sabis ɗin gwajin bambance-bambancen 23andme BRCA yana gano bambance-bambancen guda uku na wannan kwayar halitta daga cikin maye gurbi sama da dubu kuma baya tantance wasu kwayoyin halittar da ke da alaƙa da kansar nono (FDA 2018). Don haka, idan abokin ciniki ya gwada rashin kyau ga waɗannan bambance-bambancen guda uku, ƙila har yanzu suna cikin haɗarin kamuwa da cutar kansa.