Le nkampani Ihlinzeka Ngokuhlolwa Kofuzo Lomdlavuza Webele Ekhaya

-Delile

• Indlela Isivivinyo Esisebenza Ngayo
• Okuphakeme
• Izithiyo
• Ubani Okufanele Ahlole?
• Buyekeza kwe-

Ngo-2017, ungathola ukuhlolwa kwe-DNA nganoma yini ehlobene nempilo. Kusukela kuma-swabs amathe akusiza ukuthi uthole uhlobo lwakho lokufaneleka olufanele ukuya ekuhlolweni kwegazi okukutshela ukuthi yini engase ibe yindlela yakho yokudla ephumelela kakhulu ekunciphiseni isisindo, izinketho azipheli. I-CVS iphethe nokuhlolwa kwe-DNA ekhaya ne-23andMe leso sikrini sezakhi zofuzo ezihlobene nesisindo, ukuqina, nempilo yonke. Futhi-ke, kunjalo, kukhona ukuhlolwa kofuzo kwengozi eyengeziwe yezifo ezimbi, njengomdlavuza, i-Alzheimer's, kanye nesifo senhliziyo. Ngokufanelekile, lezi zivivinyo zihlomisa abantu ngolwazi olungabasiza ukuthi benze izinqumo ezingcono mayelana nempilo yabo, kodwa ukufinyeleleka okwengeziwe kuphakamisa imibuzo, njengokuthi "Ingabe ukuhlolwa kwasekhaya kusebenza kahle njengoba kwenziwa esimweni somtholampilo?" Futhi "Ingabe ukwazi okuningi nge-DNA yakho kuhlale kuyinto enhle?" (Okuhlobene: Kungani Ngithole Ukuhlolwa Kwe-Alzheimer)

Muva nje, inkampani yezinsizakalo zezempilo entsha ebizwa ngokuthi Umbala yethule ukuhlolwa kofuzo okunesaphulelo okuzimele kwe-BRCA1 kanye ne-BRCA2. Ukuhlolwa kwamathe kubiza u-$99 nje kuphela, futhi unga-oda ku-inthanethi. Yize kuyinto enhle impela ukuthi abantu abaningi baziswe ngengozi yabo yofuzo kumdlavuza webele nowama-ovari (le mikhamo emibili i-BRCAukuguqulwa kofuzo kuhlotshaniswa nakho), ochwepheshe bokuhlolwa kofuzo bakhathazeka ngokwenza lokhu kuhlola kutholakale emphakathini ngaphandle kokunikeza iziguli izinsiza ezifanele.

Indlela Isivivinyo Esisebenza Ngayo

Enye yezinto ezinhle kakhulu ngokuhlolwa kofuzo kombala ukuthi zi-odolwe ngudokotela. Lokho kusho ukuthi ngaphambi kokuba uhlole, kuzodingeka ukhulume nodokotela-okungaba owakho noma udokotela ohlinzekwe yinkampani-mayelana nezinketho zakho. Ngemuva kwalokho, ikhithi ithunyelwa ngeposi endlini yakho noma ehhovisi likadokotela wakho, ubamba ingaphakathi lesihlathi sakho ukuthola isampula lamathe, bese ulithumela elebhu yombala ukuze ihlolwe. Ngemuva kwamasonto amathathu kuya kwamane, uthola imiphumela yakho, kanye nenketho yokukhuluma nomeluleki wezofuzo ocingweni. (Okuhlobene: Umdlavuza Webele Ingabe Usongo Lwezezimali Akekho Okukhulunywa Ngaye)

Okuphakeme

Ngenkathi kulinganiselwa ukuthi umuntu oyedwa kwabangu-400 unokuguquka kwe-BRCA1 noma i-BRCA2, futhi kulinganiselwa ukuthi ngaphezu kwamaphesenti angama-90 abantu abathintekile abakatholakali. Lokho kusho ukuthi abantu abaningi badinga ukuhlolwa; isikhathi. Ngokwenza ukuhlolwa kutholakale ngentengo engabizi kubantu abangahle bangakwazi ukwenza olunye uvivinyo, Umbala usiza ukuvala lelo gebe.

Imvamisa, uma ufuna ukuhlolwa kwe-BRCA kudokotela wakho, udinga ukuwela kwesinye sezigaba ezintathu, ngokusho kukaRyan Bisson, umeluleki wezofuzo e-Orlando Health UF Health Cancer Center. Okokuqala, uma uke waba nomdlavuza webele noma we-ovari ngokwakho. Okwesibili, uma kunomlando othile womndeni njengesihlobo esinomdlavuza we-ovari noma isihlobo esiseduze esinomdlavuza webele noma ngaphambi kweminyaka yobudala engama-45. imibandela. Umbala unikeza inketho kubantu abangaweli kunoma yiziphi zalezo zigaba.

Le nkampani futhi ithenjwa ngamanethiwekhi amakhulu ezempilo alolu hlobo lokuhlolwa kofuzo nangaphansi kwezinye izimo ezihlukile, okusho ukuthi akudingeki ukhathazeke ngekhwalithi yezivivinyo zombala. "UMnyango kaHenry Ford weMedical Genetics usebenzisa iColor kubantu abafuna ukuhlolwa kepha abangahlangabezani nenqubo yokuhlolwa, kanye nabesifazane abangafuni imiphumela yokuhlolwa kwirekhodi labo lezokwelapha," kuchaza uMary Helen Quigg, MD, ongudokotela kulo Mnyango. we-Medical Genetics e-Henry Ford Health System. Kwesinye isikhathi, abantu abafuni imiphumela yabo ibhalwe phansi ngezinjongo zomshwalense. Futhi, kunesici esilula, kusho uDkt Quigg. Ukuhlolwa kwasekhaya kuyashesha futhi kulula.

Izithiyo

Ngenkathi kukhona izinto ezinhle ngokuhlolwa kwasekhaya kwe-BRCA, ochwepheshe bacaphuna izinkinga ezine eziyinhloko ngalo.

Abantu abaningi banemibono eyiphutha ngokuthi ukuhlolwa kofuzo kusho ukuthini ngengozi yomdlavuza iyonke.

Kwesinye isikhathi abantu babheka ukuhlolwa kofuzo ukuze banikeze izimpendulo eziningi kunalokho okusemandleni. "Ngingummeli ngokuphelele weziguli ezazi imininingwane yazo yofuzo," kusho uBisson. Kepha "ikakhulukazi ngombono womdlavuza, abantu babeka isitokwe esiningi kakhulu kwizakhi zofuzo. Bacabanga ukuthi wonke umdlavuza ungenxa yezakhi zofuzo zabo nokuthi uma behlolwa ulibofuzo, kuzobatshela konke abadinga ukukwazi." Eqinisweni, cishe amaphesenti angu-5 kuya kwangu-10 kuphela omdlavuza abangelwa ukuguqulwa kwezakhi zofuzo, ngakho-ke nakuba kubalulekile ukuqonda ingozi yakho yofuzo, ukuthola umphumela ongemuhle akusho ukuthi awusoze waba nomdlavuza. Futhi ngenkathi umphumela omuhle ukhombisa ubungozi obandayo, akusho ukuthi wena intando uthole umdlavuza.

Uma kukhulunywa ngokuhlolwa kofuzo, ukuthola i- kwesokudla ukuhlolwa kubalulekile.

Ukuhlolwa kwe-BRCA okunikezwa Umbala kungase kube banzi kakhulu kwabanye abantu, futhi kube mncane kakhulu kwabanye. "I-BRCA 1 no-2 kuphela ezibanga cishe amaphesenti angama-25 omdlavuza webele owazalwa ngofuzo," kusho uDkt Quigg.Lokho kusho ukuthi ukuhlola kuphela lezo zinguquko ezimbili kungase kucace kakhulu. Lapho uQuigg nozakwabo be-oda ukuhlolwa kuMbala, ngokuvamile ba-oda uhla olubanzi kakhulu lokuhlola kune-BRCA 1 kanye no-2 kuphela, bavame ukukhetha uHeredered Cancer Test yabo, ehlaziya izakhi zofuzo ezingama-30 ezaziwa ukuthi zihlobene nomdlavuza.

Futhi, imiphumela elusizo kakhulu ivela ekuhlolweni okwenziwe ngendlela oyifisayo. “Sinezakhi zofuzo eziphathelene nomdlavuza ezingaba ngu-200,” kuchaza uBisson. "Ngokombono womtholampilo, siklama ukuhlola esikubona emlandweni wakho womuntu siqu nomndeni." Ngakho-ke ngezinye izikhathi, iphaneli yezakhi zofuzo ezingu-30 ingase icace kakhulu noma ibe banzi kakhulu, kuye ngomlando womndeni wakho.

Ngaphezu kwalokho, uma ilungu lomndeni lomuntu selivele lihlolwe likhona, ukuhlolwa okujwayelekile kwe-BRCA akuyona inketho engcono kakhulu. "Cabanga ngezakhi zofuzo ze-BRCA njengencwadi," kusho uBisson. "Uma sithola ukuguquka kwezakhi zofuzo kolunye lwalezo zofuzo, ilebhu ebilivivinya izositshela ngqo ukuthi yiliphi lelo khasi elishintshiwe, ngakho-ke ukuhlola wonke umuntu emndenini ngokuvamile kumane nje kubheke lokho kuguqulwa okukhethekile noma inombolo yekhasi . ' Lokhu kwaziwa njengokuhlolwa kwesiza esisodwa, okwenziwa Umbala ngudokotela kepha akunikezwa umphakathi jikelele kuwebhusayithi yabo.

Akumele ukhokhe ngaphandle kwephakethe ukuze uhlole izakhi zofuzo.

Kuyiqiniso ukuthi abantu abaningi kufanele bathole ukuhlolwa kwe-BRCA, kodwa ngendlela efanayo okufanele ukuhlolwa ngokwakho kuqondiswe ngayo ngokuqondile, abantu abathola ukuhlolwa kufanele baphume eqenjini elithile: abantu abahlangabezana nemibandela yokuhlolwa. "Iziguli kwesinye isikhathi zibona imibandela njengenye nje indilinga yazo yokungena kuyo, kepha izama kakhulu ukukhomba imindeni engase ithole imininingwane ngokuhlolwa kofuzo," kusho uBisson.

Futhi nakuba ukuhlolwa kuthengwa kahle ngaphansi kuka-$100, Umbala awunikezi inketho yokuba nenkokhelo yomshwalense yokuhlolwa okuzimele kwe-BRCA. . kwenziwe. Futhi uma umshwalense wakho ungeke ukhokhele ukuhlolwa? "Isikhathi esiningi, labo ngabantu abangeke bahlomule ekuhlolweni. Izinkampani eziningi zomshuwalense zisebenzisa izindlela zikazwelonke ezivela kuNational Comprehensive Cancer Network, okuyiqembu lodokotela abazimele nochwepheshe abenza imihlahlandlela," kusho uBisson. Yiqiniso, kukhona okuhlukile, futhi kulabo bantu, uBisson uthi ngabe batusa isevisi efana Umbala.

Ukwelulekwa ngokofuzo ngemva kokuthola imiphumela yakho kuyadingeka ngempela.

Kwesinye isikhathi imiphumela yokuhlolwa kofuzo ingaholela emibuzweni eminingi kunezimpendulo. Lapho kutholakala ukuguquka kwezakhi zofuzo (noma ushintsho kuhlobo), kunezindlela ezintathu engahlukaniswa ngazo, ngokusho kukaBisson. Benign, okusho ukuthi ayinabungozi. I-Pathogenic, okusho ukuthi yandisa ingozi yomdlavuza. Futhi okuhlukile kokubaluleka okungaziwa (i-VUS), okusho ukuthi alukho ucwaningo olwanele ekuguqukeni kokuthola isiphetho. "Kunethuba elilinganiselwa kumaphesenti amane kuya kwayisihlanu lokuthola i-VUS ngokuhlolwa kwe-BRCA," kusho uBisson. "Ezigulini eziningi, lokho kuphakeme kakhulu kunethuba lokuthola uguquko lwe-pathogenic." Khumbula leso sibalo kwezingu-400 sangaphambilini? Lokho kusho ukuthi kungenzeka kakhulu ukuthi ngaphandle kwenqubo yokuhlangana yokuhlolwa, ungahle ungatholi imininingwane yekhwalithi kuyo. Lesi ngesinye sezizathu ezinkulu izinkampani zomshwalense ezivame ukudinga ukuthi abantu bahlangane nochwepheshe bezofuzo noma umeluleki ngaphambi kokuhlolwa.

Umbala unikeza ukwelulekwa ngofuzo, kodwa ikakhulukazi kwenzeka ngemva kokuhlolwa sekwenziwe. Ngokwazi kwabo, basobala mayelana nokuthi kufanele ngabe uxoxa ngemiphumela yakho nomhlinzeki wezempilo, kepha akudingeki. Inkinga ukuthi abantu bavame ukubiza kuphela ukwelulekwa uma bethola umphumela omuhle, kusho uDkt. Quigg. "Imiphumela emibi nokuhlukahluka nakho kudinga ukwelulekwa ukuze umuntu aqonde ukuthi kusho ukuthini. Umphumela ongemuhle awusho ukuthi akukho ukuguquka kwezakhi zofuzo. Kungasho ukuthi asikutholanga ukuguquka kwezakhi - noma empeleni okungekuhle. " Umphumela we-VUS ungesinye isikhwama sezikelemu esidinga ukwelulekwa okuthile, usho kanje.

Ubani Okufanele Ahlole?

Kalula nje, uma unomshwalense nomlando womndeni osemthethweni womdlavuza ohlobene ne-BRCA, cishe uzokwazi ukuthola ukuhlolwa ngeziteshi zendabuko ngemali ephansi noma ngaphandle kwezindleko nhlobo. Kepha uma wena ungakwenzi unomshuwalense futhi uphuthelwa yizinqubo zokuhlolwa, noma uma ungafuni imiphumela yakho kwirekhodi lakho lezokwelapha, ukuhlolwa kwe-BRCA yombala kungahle kukulungele. (Akunandaba nobungozi bakho, uzofuna ukwazi ngale divayisi ekhanyayo ethi ingasiza ukuthola umdlavuza webele ekhaya.) Kepha lokho akusho ukuthi kufanele ungene ku-inthanethi bese uyi-oda. "Ngincoma ukuthi iziguli zelulekwe futhi lapho-ke banqume ukuthi bafuna ukuhlolwa ekhaya yini, nezinketho zokuthola ukwelulekwa okulandelayo okufanelekile, "kusho uDkt Quigg.

Iphuzu elibalulekile: Khuluma nodokotela wakho ngaphambi kokuba ugibele. Angakusiza ukuthi ubone ukuthi ngabe ukuhlolwa kuzonikeza imininingwane ewusizo ngempela futhi akuthumele kumeluleki wezofuzo. Futhi uma wena yenza uthathe isinqumo sokuya ekhaya, inketho yakho ingakhuluma nawe ngemiphumela yakho ubuso nobuso.

Buyekeza kwe-