Le nkampani inikezela ngoVavanyo lweMfuzo kuMhlaza weSifuba ekhaya

Umxholo

• Uvavanyo lusebenza njani
• Upsides
• IiDrawbacks
• Ngubani Ofanele Ukwenza Uvavanyo?
• Uphengululo lwe

Ngo-2017, unokufumana uvavanyo lwe-DNA malunga nantoni na enxulumene nempilo. Ukusuka kumathe amathe anokunceda ukuba ufumane irejimeni yakho yokomelela komzimba kuvavanyo lwegazi olukuxelela ukuba yeyiphi eyona ndlela yokutya efanelekileyo yokunciphisa umzimba, ukhetho alupheli. I-CVS ikwaqhuba novavanyo lwe-DNA lwasekhaya ngu-23andMe esikrinini semfuza enxulumene nobunzima, ukufaneleka, kunye nempilo iyonke. Kwaye, ewe, kukho iimvavanyo zofuzo kumngcipheko okonyukayo wezifo ezinzulu, njengomhlaza, i-Alzheimer's, kunye nesifo sentliziyo. Ngokufanelekileyo, ezi mvavanyo zixhobisa abantu ngolwazi olunokubanceda ukuba benze izigqibo ezingcono malunga nempilo yabo, kodwa ukufikeleleka okwandisiweyo kuphakamisa imibuzo, efana "Ngaba iimvavanyo zasekhaya zisebenza kakuhle njengoko zenziwe kwimeko yeklinikhi?" Kwaye "Ngaba ukwazi ngakumbi nge-DNA yakho kuhlala kuyinto entle?" (Idibeneyo: Kutheni Ndifumana uVavanyo lwe-Alzheimer's)

Kutshanje, inkampani entsha yeenkonzo zempilo ebizwa ngokuba yiMbala iqalise ngesaphulelo esizimeleyo se-BRCA1 kunye novavanyo lwe-BRCA2. Uvavanyo lwamathe lubiza nje i-99 yeedola, kwaye unoku-odola kwi-Intanethi. Ngelixa ngokuqinisekileyo kuyinto elungileyo ukuba abantu abaninzi baxelelwe malunga nemingcipheko yabo yemfuza yomhlaza webele kunye nowe-ovari (ezimbini zomhlaza i-BRCAukuguqulwa kofuzo kunxulunyaniswa nayo), iingcali zovavanyo lwemfuza zixhalabile malunga nokwenza olu vavanyo lufumaneke kuluntu ngaphandle kokubonelela izigulane ngezibonelelo ezifanelekileyo.

Uvavanyo lusebenza njani

Enye yezona zinto zibalaseleyo malunga novavanyo lwemfuza lombala kukuba bayalelwe ngugqirha. Oko kuthetha ukuba ngaphambi kokuba uthathe uvavanyo, kuya kufuneka uthethe nogqirha-nokuba ngowakho okanye ugqirha obonelelwe yinkampani-malunga nokhetho lwakho. Emva koko, ikhithi ithunyelwe ngeposi endlwini yakho okanye kwi-ofisi kagqirha wakho, ujija ngaphakathi esidleleni sakho ukuze ufumane isampulu yamathe, kwaye uyithumele kwilebhu yombala yokuvavanya. Emva kweeveki ezintathu ukuya kwezine, ufumana iziphumo zakho, kunye nokukhetha ukuthetha nomcebisi wemfuza kwifowuni. (Idibeneyo: Umhlaza webele Ngaba sisisongelo sezezimali akukho mntu uthetha ngaso)

Upsides

Ngelixa kuqikelelwa ukuba umntu omnye kwabangama-400 unotshintsho lwe-BRCA1 okanye i-BRCA2, kuqikelelwa ukuba ngaphezu kwama-90 ekhulwini abantu abachaphazelekayo abakachongwa. Oko kuthetha ukuba abantu abaninzi bafuna ukuvavanywa; ixesha. Ngokwenza uvavanyo lufikeleleke ngexabiso elifikelelekayo kubantu abanokuthi ngenye indlela bangakwazi ukwenza uvavanyo, Umbala uyanceda ukuvala loo msantsa.

Ngokwesiqhelo, ukuba ufuna ukwenza uvavanyo lwe-BRCA ngogqirha wakho, kuya kufuneka uwele kwelinye lala macandelo mathathu, ngokukaRyan Bisson, umcebisi ngemfuzo kwiziko lezeMpilo lase-Orlando Health UF. Okokuqala, ukuba ngaba unomdlavuza webele okanye we-ovari. Okwesibini, ukuba kukho imbali ethile yentsapho efana nesalamane esinomhlaza wesibeleko okanye isalamane esisondeleyo esinomhlaza webele okanye ngaphambi kweminyaka engama-45 ubudala. iikhrayitheriya. Umbala ubonelela ngenketho kubantu abangaweli nakwezinye iindidi.

Inkampani ikwathenjwa ngothungelwano olukhulu lwezempilo kolu hlobo lovavanyo lwemfuza naphantsi kwezinye iimeko ezingaqhelekanga, nto leyo ethetha ukuba awunokukhathazeka malunga nomgangatho weemvavanyo zeMbala. "ISebe likaHenry Ford leGenetics yezoNyango lisebenzisa uMbala kubantu abafuna ukuvavanywa kodwa abafikeleli kwiindlela zokuvavanya, kunye nabasetyhini abangafuni iziphumo zovavanyo kwiirekhodi zabo zonyango," kuchaza uMary Helen Quigg, MD, ugqirha kwiSebe. yeGenetics yezoNyango kwi-Henry Ford Health System. Ngamanye amaxesha, abantu abafuni iziphumo zabo kwirekhodi ngeenjongo ze-inshurensi. Kwaye kukho into elula, utshilo uGqirha Quigg. Uvavanyo lwasekhaya luyakhawuleza kwaye lulula.

IiDrawbacks

Ngelixa ngokuqinisekileyo kukho izinto ezintle malunga novavanyo lwe-BRCA ekhaya, iingcali zikhankanya iingxaki ezine eziphambili ngayo.

Abantu abaninzi banemibono engeyiyo malunga nokuba uvavanyo lwemfuzo luthetha ntoni kumngcipheko womhlaza ngokubanzi.

Ngamanye amaxesha abantu bajonge kuvavanyo lwemfuza ukunika iimpendulo ezingaphezulu kunokuba kunokwenzeka ngokwenene. "Ndiligqwetha elipheleleyo lezigulana ezazi ulwazi lwazo lwemfuza," utshilo uBisson. Kodwa "ngokukodwa kumbono womhlaza, abantu babeka i-stock eninzi kakhulu kwi-genetics. Bacinga ukuba wonke umhlaza ubangelwa yimfuza yabo kwaye ukuba ngaba uvavanyo lwemfuza, luya kubaxelela yonke into abayifunayo. " Enyanisweni, malunga neepesenti ezi-5 ukuya kwezi-10 zeekhensi ngenxa yokuguquka kwemfuza, ngoko ngelixa kubalulekile ukuqonda umngcipheko wefa, ukufumana umphumo ombi akuthethi ukuba awusoze ube nomhlaza. Kwaye ngelixa iziphumo ezilungileyo zibonisa umngcipheko owandileyo, oko akuthethi ukuba nguwe Ngaba ukufumana umhlaza.

Xa kuziwa kuvavanyo lwemfuza, ukufumana kunene iimvavanyo zibalulekile.

Uvavanyo lwe-BRCA olunikezwa nguMbala lunokuba lubanzi kakhulu kwabanye abantu, kwaye luncinci kakhulu kwabanye. "I-BRCA 1 kunye ne-2 kuphela i-akhawunti malunga neepesenti ze-25 zesifo somhlaza webele," ngokutsho kukaGqr Quigg.Oko kuthetha ukuba uvavanyo lwezo tshintsho zimbini kuphela lunokuthi lucace kakhulu. Xa uQuigg kunye noogxa bakhe be-odola kuvavanyo oluvela kuMbala, ngokubanzi bayalela uluhlu olubanzi kakhulu lovavanyo kune-BRCA 1 kunye ne-2 kuphela, bahlala bekhetha uvavanyo lwabo lweCancer Hereditary, oluhlalutya ii-30 zofuzo ezaziwa ukuba zinxulunyaniswa nomhlaza.

Kwaye, ezona ziphumo zoncedo zivela kuvavanyo olwenziwe ngokwezifiso. "Sine-200 yemfuza eyahlukeneyo enxulumene nomhlaza," ucacisa uBisson. "Ngokwembono yeklinikhi, siyila uvavanyo malunga nento esiyibonayo kwimbali yakho yobuqu kunye nentsapho." Ke ngamanye amaxesha, iphaneli yemfuza engama-30 inokuthi icace kakhulu okanye ibanzi kakhulu, kuxhomekeke kwimbali yosapho lwakho.

Ngaphezu koko, ukuba ilungu losapho lomntu sele livavanyiwe, uvavanyo lwe-BRCA ayisiyiyo eyona ndlela ilungileyo. "Cinga ngemizila ye-BRCA njengencwadi," utshilo uBisson. "Ukuba sifumana utshintsho kwenye yezo ntlobo zemfuza, ilebhu eyenze uvavanyo iyakusixelela ukuba leliphi na inani elikwiphepha olo tshintsho, ukuvavanya wonke umntu kusapho oluqhelekileyo luqulathe ukujonga olo tshintsho okanye inombolo yephepha . ' Oku kwaziwa njengovavanyo lwendawo enye, olwenziwa ngombala ngugqirha kodwa alunikezelwa kuluntu ngokubanzi kwiwebhusayithi yabo.

Akufanelanga ukuba uhlawule ngaphandle kwepokotho yovavanyo lwemfuzo.

Kuyinyani ukuba abantu abaninzi kufuneka bafumane uvavanyo lwe-BRCA, kodwa ngendlela efanayo yokuba uvavanyo ngokwalo kufuneka lujolise ngqo, abantu abafumana uvavanyo kufuneka beze kwiqela elithile: abantu abahlangabezana neenqobo zovavanyo. "Izigulana ngamanye amaxesha zibona iikhrayitheriya njengenye nje into yokuhombisa kubo yokutsiba, kodwa izama ukujolisa kwiintsapho ezinokuthi zifumane ulwazi kuvavanyo lwemfuzo," utshilo uBisson.

Kwaye ngelixa uvavanyo lufikeleleka kakhulu ngaphantsi kwe-$ 100, Umbala awunikezeli ukhetho lokuhlawula i-inshurensi yovavanyo oluzimeleyo lwe-BRCA. (Banikezela ngenketho yokwenza ityala le-inshurensi kwezinye iimvavanyo zabo.) Ukuba uyahlangabezana nemilinganiselo yovavanyo lwemfuza kwaye une-inshurensi yezempilo, akukho sizathu sokuhlawula ngaphandle kwepokotho ukuba ube novavanyo lwemfuzo kwinguqu ye-BRCA. kwenziwe. Kwaye ukuba i-inshurensi yakho ayizukugubungela uvavanyo? "Amaxesha amaninzi, abo ngabantu abangazukuxhamla kuvavanyo. Uninzi lweenkampani zeinshurensi zisebenzisa iikhrayitheriya zikazwelonke ezivela kwiNational Comprehensive Cancer Network, neqela lamagqirha azimeleyo neengcali ezenza izikhokelo," utshilo uBisson. Ewe kunjalo, kuhlala kukho okungafaniyo, kwaye kwabo bantu, uBisson uthi Ngaba cebisa inkonzo efana noMbala.

Ukucetyiswa ngokwemvelo emva kokufumana iziphumo zakho kunyanzelekile.

Ngamanye amaxesha iziphumo zovavanyo lwemfuzo zinokubangela imibuzo emininzi kuneempendulo. Xa ukuguqulwa kwemfuza (okanye utshintsho kuhlobo) kufunyenwe, zintathu iindlela ezinokuthi zihlelwe, ngokweBisson. Benign, okuthetha ukuba ayinabungozi. I-Pathogenic, ethetha ukuba yonyusa umngcipheko wakho womhlaza. Kwaye umahluko wokubaluleka okungaziwayo (i-VUS), okuthetha ukuba akukho lwanele uphando malunga notshintsho ukwenza isigqibo. "Kukho malunga neepesenti ezi-4 ukuya kwezi-5 ithuba lokufumana i-VUS ngovavanyo lwe-BRCA," utshilo uBisson. "Kwizigulana ezininzi, loo nto iphezulu kunethuba lokufumana utshintsho lwepathogenic." Khumbula ukuba omnye kwabangama-400 ukusuka ngaphambili? Oko kuthetha ukuba kunokwenzeka ngakumbi ukuba ngaphandle kweendlela zokuhlangana zovavanyo, ngekhe ufumane ulwazi olusemgangathweni ngalo. Esi sesinye sezizathu ezinkulu iinkampani zeinshorensi zihlala zifuna ukuba abantu badibane nengcali yemfuza okanye umcebisi ngaphambi kokuba kwenziwe uvavanyo.

Umbala uyayinika ingcebiso ngemfuzo, kodwa ubukhulu becala kwenzeka emva kovavanyo olwenziwe. Kwityala labo, bacacile malunga nenyani yokuba ngenene kufuneka uxoxe ngeziphumo zakho kunye nomboneleli wezempilo, kodwa akuyomfuneko. Umcimbi kukuba abantu bahlala bebiza kuphela ukufumana iingcebiso xa befumana iziphumo ezilungileyo, utshilo uGqirha Quigg. "Iziphumo ezingalunganga kunye nezinto ezahlukileyo zifuna ukucetyiswa ukuze umntu aqonde ukuba kuthetha ntoni. Iziphumo ezingalunganga akuthethi ukuba akukho tshintsho. Ingathetha ukuba asilufumenanga utshintsho-okanye ngenene engalunganga. " Isiphumo se-VUS yenye ingxowa yeentshulube ezifuna iingcebiso ezithile, utshilo.

Ngubani Ofanele Ukwenza Uvavanyo?

Ukubeka nje, ukuba unayo i-inshurensi kunye nembali yosapho ehambelana nomhlaza onxulumene ne-BRCA, uya kuba nakho ukufumana uvavanyo ngamajelo emveli ngexabiso eliphantsi okanye ngaphandle kweendleko konke konke. Kodwa ukuba wena musa ube ne-inshorensi kwaye uphose kancinci iikhrayitheriya zovavanyo, okanye ukuba awufuni iziphumo zakho kwirekhodi yakho yezonyango, uvavanyo lwe-BRCA yoMbala lunokulungela. (Kungakhathaliseki ukuba umngcipheko wakho wobuqu, uya kufuna ukwazi malunga nesi sixhobo sokukhanya esipinki esithi sinokukunceda ukufumanisa umhlaza webele ekhaya.) Kodwa oko akuthethi ukuba kufuneka uye kwi-intanethi kwaye uyi-odole. "Ndicebisa ukuba izigulana zifumane iingcebiso kwaye emva koko bathathe isigqibo sokuba bafuna uvavanyo lwasekhaya, kunye nokhetho lokufumana iingcebiso ezifanelekileyo ngakumbi, utshilo uGqr Quigg.

Umgca ophantsi: Thetha nodokotela wakho ngaphambi kokuba uthathe i-plung. Unokukunceda uqonde ukuba ngaba uvavanyo luya kubonelela ngolwazi oluluncedo kwaye lukuthumela kumcebisi wezofuzo. Kwaye ukuba wena yenza isigqibo sokuya kukhetho lwasekhaya, i-doc yakho ingakuthetha ngeziphumo zakho ubuso ngobuso.

Uphengululo lwe