Iimbalasane
Zininzi iindlela apho Ukulandelelaniswa kwe-genome / genomic yeesampulu zomhlaza wezigulana kunokuba luncedo, kubandakanywa ukuqikelela umngcipheko womhlaza, ukuxilongwa komhlaza kunye nokuxilongwa, kunye nokuchonga okomntu kunye nokuchaneka umhlaza unyango. Kukho iinkampani ezininzi ezibonelela ngovavanyo olwahlukeneyo lolandelelwano lwemfuza yomhlaza kwaye uvavanyo oluchanekileyo luya kufuna ukuchongwa ngokusekelwe kwimeko ethile kunye nohlobo lomhlaza. Olunye uvavanyo lwemfuzo olubonelelwa zezi nkampani luhlawulelwa yi-inshurensi kodwa uninzi lusekelwe ekuzihlawuleni.
Ukuskena ngokujonga kwakhona, amanqaku, iibhloko, iingcebiso njl.njl. Luninzi ulwazi, isigama esitsha kunye novavanyo olucetyiswayo uninzi lwethu olungazi nto ngalo. Ulandelelwano lwethumba, ukulandelwa komhlaza / ukwenziwa kwethumba, ukulandelelana kwesizukulwana esilandelayo, iipaneli ekujoliswe kuzo, ukulandelelana ngokupheleleyo, iimpawu zeemolekyuli zomhlaza, yiyo yonke ingqokelela esihlangana nayo. Zithetha ntoni ezi zinto kwaye ziluncedo njani ezi zinto?
Yintoni iCancer Genome / Genomic Sequicing?
Makhe siqale ngeziseko zomhlaza. Umhlaza kukukhula okungalawulwayo kweeseli ezithile emzimbeni wethu eziye zaqheleka ngenxa yokuqokelelwa kweenguqu kwimfuzo kwi-DNA yethu yeselfowuni, ebizwa ngokuba lutshintsho okanye ukuguqulwa kwemfuza. I-DNA yenziwe zii-4 zoonobumba be-nucleotide, ngokulandelelana kwazo okwenza ufuzo olunika imiyalelo yokwenza iiproteni eziqhuba imisebenzi yeeseli zethu, izicwili kunye namalungu. Ukulandelelana kukucaciswa komxholo we-genomic weeseli. I-DNA evela kwiiseli ezinomhlaza kunye neeseli eziqhelekileyo ezingezizo ezomhlaza zinokwahlulwa kwaye ngenxa yenkqubo entsha kunye nokuqhubela phambili kubuchwephesha bokulandelelana kwesizukulwana esilandelayo, inokuchazwa kwinqanaba lokulandelelana kwe-nucleotide. Ukuthelekiswa komhlaza kunye nolawulo lokulandelelana kwe-DNA kunika ulwazi ngotshintsho olutsha olufunyenweyo oluthi xa luqhubeka luhlalutywa lunike ukuqonda kokungaqhelekanga okuqhuba isifo.
Iindidi ezahlukeneyo zokulandelelana
Ukuchongwa kweenguqu ze-genomic kunye nokungaqhelekanga kunokwenziwa ngeendlela ezahlukeneyo kunye novavanyo olubandakanya i-cytogenetic karyotyping, ukukhulisa imimandla ethile ye-DNA ngokusebenzisa i-polymerase chain reaction (PCR), ukuchongwa kwezinto ezingaqhelekanga kunye nokudityaniswa kusetyenziswa i-fluorescence in situ hybridization (FISH), ukulandelelana kwe-genomic iphaneli ekujoliswe kuyo yohlobo oluthile lomhlaza, okanye ulandelelwano lweseti epheleleyo yemfuza ebizwa ngokuba yi-whole-exome sequencing (WES) okanye yonke i-DNA yeseli inokulandelelana njengenxalenye ye-whole-genome sequencing (WGS). Ukuphunyezwa kweklinikhi ye umhlaza iprofayili, ukhetho olukhethiweyo lujoliswe ekulandeleni iipaneli zofuzo zejeni ezikhethekileyo zomhlaza kuluhlu lwe-30 - 600 genes, ngelixa i-WES kunye ne-WGS zisetyenziswa ngakumbi kwisizinda sophando. Izinto eziluncedo zokulandelelana okujoliswe kuzo ziindleko eziphantsi, ubunzulu obukhulu bokulandelelanisa kunye nohlalutyo olunzulu lwemimandla ethile ye-DNA enokuthi ibe ngabaqhubi abaphambili bomhlaza.
Ukutya okuTyiwa emva kokuChongwa koMhlaza!
Akukho mhlaza mibini ifanayo. Yiya ngaphaya kwezikhokelo zesondlo esiqhelekileyo kuwo wonke umntu kwaye wenze izigqibo ezizezakho malunga nokutya kunye nezongezo ngokuzithemba.
Ngaba ulungelelwaniso lomhlaza wohlobo lomhlaza luncedo- zithini izibonelelo zalo?
Kwisigulana esinomhlaza, kufuneka umntu akhethe iphaneli yovavanyo olufanelekileyo kuhlobo oluthile lomhlaza. Iicancer ezahlukeneyo zinxulunyaniswa neeseti ezahlukeneyo zokutshintsha kwemfuza kunye neepaneli ekujoliswe kuzo ezivela kwiinkampani ezahlukeneyo zigubungela iiseti ezahlukeneyo zofuzo. Ubunzulu obuphezulu bokugubungela imimandla ye-genomic elandelelanayo inezibonelelo ngaphezulu kokugubungela umntu anokufumana nge-WES kodwa inokuphosa ezinye iziphumo eziphambili. Kukwakho ukunqongophala kokumiswa komgangatho kuvavanyo lokulandelelana kunye nokwahluka kweziphumo xa kulandelwa iDNA kwisampuli enye kuvavanyo olwahlukileyo, kwiimeko ezininzi. Kukwakho nokwahluka ngokulandelelana ngokusekwe kwinxalenye yesampulu yesisu elandelelweyo kunye nomehluko obonwayo phakathi kokulandelelana kwe-DNA kwisampulu yesisu esomeleleyo kunye nokujikeleza kwethumba le-DNA kwisigulana esinye. Nangona kunjalo, ngaphandle kwemiceli mngeni eyahlukeneyo, ulwazi olufunyenwe kulandelelwano lomhlaza lwe-genomic lunokuba luncedo ngeendlela ezininzi njengoko kuvavanywa ngoososayensi abavela kwiZiko i-Wellcome Sanger e-United Kingdom (I-Nanglia kunye neCampbell, eNtsha Engl J Med., 2019).
Ezinye zeendlela umhlaza we-genome / ulungelelwaniso lwe-genomic olunokuba luncedo ekuchongeni, ekuthatheni isigqibo sonyango kunye nokubeka esweni umhlaza zidweliswe apha ngezantsi:
- Uqikelelo lomngcipheko womhlaza kumntu ophilileyo onokuba nembali yosapho yomhlaza. Ukulandelelana kwe-DNA kwisampulu yegazi lomntu ophilileyo kunokunika ulwazi malunga notshintsho lwentsholongwane olunokubakho kwaye lunokonyusa umngcipheko womhlaza wexesha elizayo. Umz. ubukho bokutshintsha kwesifo somhlaza kwi-BRCA, APC okanye iVHL.
- I-Pharmacogenomics-i-germline genomics inokuchonga i-nucleotide polymorphisms enye (SNPs) kwichiza elenza ii-enzymes ezinokusetyenziselwa ukuchonga abaguli abasemngciphekweni weziphumo ezinetyhefu ye-chemotherapy.
- I-Epidemiology kunye neMpilo yoLuntu -ulandelelwano lwe-genomic yamathumba avela kwimimandla apho kukho imeko ephezulu yomhlaza othile enokunceda ekuchongeni imeko-bume, ukutya okanye okunye ukubhengeza okunokubangela imeko ephezulu yomhlaza.
- Ukulandelelana kwezilonda kwangoko kunokunceda ekuchongeni isifo kunye nemfuno yokungenelela. I-Genomics enamanani amaninzi okutshintsha / ukutshintsha kunye nohlobo lotshintsho, inokuchongwa njengaleyo ifuna ungenelelo kwangethuba nangakumbi.
- Ukuxilongwa komhlaza ngokuchonga utshintsho lomqhubi olufana ne-BCR_ABL, KRAS, TP53 kunye nezinye zinokuqinisekisa umhlaza osisiseko.
- Ukuchongwa kwethishu yemvelaphi ye umhlaza yeprimary engaziwayo. Utshintsho oluthile lunxulunyaniswa neentlobo ezithile zomhlaza.
- Ukwahlulwa kwethumba kunokwenziwa ngokwesiseko soguquko lomqhubi kwaye kunxulunyaniswe nesifo sebhayoloji esinokunyangwa ngonyango oluthile ekujoliswe kulo.
- Ukuxela kwangaphambili iziphumo zesigulana kunye nokubonelela ngengqikelelo engcono esekwe kwidatha yeklinikhi kunye ne-genomic. Umz. Izidumbu ezinokutshintsha kwe-TP53 zinezibikezelo ezimbi.
- Ukulandelelana kwe-genome kunceda kunyango lomhlaza oluchanekileyo- Izigulana ezinomhlaza zinokutshintsha okuninzi kwaye ukuhambelana notshintsho kuhlukile kwisigulana ngasinye somhlaza. Yiyo loo nto into ebonakalisa ukwenziwa kwendibaniselwano eyenzelwe umntu kunye neyakho enokuthi ijongane nefuthe lakho konke ukungaqheleki iya kuba yinto engcwele kunyango lomhlaza.
- Ukuchonga iindlela zokumelana ngokulandelelana komhlaza ongaphendulanga kunyango olumiselweyo.
- Ukubeka iliso kumhlaza ngokusebenzisa ulwelo oluyi-biopsy lokujikeleza i-tumor ye-DNA okanye ukujikeleza iiseli zesisu kunokunceda ekuchongeni ukuphinda-phinda kwesifo okanye ukubuyela umva ngaphandle kokwenza i-biopsy okanye utyando.
Ke ngoko, njengoko kuchaziwe, kukho iindlela ezininzi zokujonga umhlaza Ulandelelwano lwe-genomic/genome lunokuba luncedo kuquka ukuxela kwangaphambili umngcipheko womhlaza, ukuxilongwa komhlaza kunye nokuxilongwa, kunye nokuchonga unyango lomhlaza olwenzelwe umntu kunye noluchanekileyo, nangona luyinto eqhelekileyo kuninzi lwe-oncology practice.
Ungalufumana phi uvavanyo lokulandelwa kwemhlaza yemfuza?
Kukho inani leenkampani ezibonelela ngovavanyo lokulandelelana kwemfuza / yemfuza ngokusekwe kumathe okanye iisampulu zegazi ezinamakhono ahlukeneyo njengoko kuchaziwe apha ngasentla kuya kufuneka ukuba zichongwe ngokusekwe kwimeko ethile, uhlobo lomhlaza kunye nenjongo. Kukho iimvavanyo ezimbalwa zemfuza zomhlaza ezibonelelwa zezi nkampani ngoku zibuyiswayo zizicwangciso zikarhulumente ezinje ngeMedicare okanye i-NHS kodwa kumazwe amaninzi afana ne-India ne China, ezi mvavanyo zihlawulwa zizigulana. Nceda unxibelelane nononophelo lwempilo kunye nabanikezeli ngeinshurensi ukuze ufumane ulwazi kwiimvavanyo zofuzo zomhlaza ezigutyungelwe kwisicwangciso sakho. Ungajonga eli phepha ngaphandle uluhlu iimvavanyo ezamkelekileyo zofuzo kumngcipheko womhlaza.
Kukuphi ukutya okutyayo kwaye okuncedisayo kukuthatha sisigqibo osithathayo. Isigqibo sakho kufuneka sibandakanye ukuthathelwa ingqalelo kotshintsho lomhlaza kuhlobo lomhlaza, unyango oluqhubekayo kunye nezongezelelo, nakuphi na ukwaliwa, ulwazi ngobomi bakho, ubunzima, ukuphakama kunye nemikhwa.
Isicwangciso sesondlo somhlaza esivela kwi-addon asisekelwanga kukhangelo lwe-Intanethi. Isebenza ngokuzenzekelayo ukwenza izigqibo zakho kusekwe kwisayensi yemolekyuli ephunyezwe ngoososayensi kunye neenjineli zesoftware. Nokuba ukhathalele na ukuqonda iindlela ezisisiseko seemolekyuli okanye hayi - zokucwangciswa kwesondlo somhlaza ukuqonda kuyafuneka.
Qalisa NGOKU ngokucwangciswa kwesondlo ngokuphendula imibuzo ngegama lomhlaza, uguquko kwimfuza, unyango oluqhubekayo kunye nezincedisi, nakuphi na ukwaliwa, imikhwa, indlela yokuphila, iqela lobudala kunye nesini.
ISondlo esiSiqu soMhlaza!
Umhlaza uyatshintsha ngokuhamba kwexesha. Yenza ngokwezifiso kwaye uguqule isondlo sakho ngokusekwe kwisalathiso somhlaza, unyango, indlela yokuphila, ukhetho lokutya, i-allergies kunye nezinye izinto.
Izigulana ezinomhlaza zihlala zisebenza ngeendlela ezahlukeneyo iziphumo ebezingalindelekanga ezichaphazela umgangatho wobomi babo kwaye bajonge ezinye iindlela zonyango lomhlaza isondlo esifanelekileyo kunye nezongezelelo ezisekwe kuqwalaselo lwenzululwazi (ukunqanda ukuqikelela kunye nokukhetha okungahleliwe) lolona nyango lwendalo olungcono lomhlaza kunye nokunxulumene nonyango imiphumela.