Amaphuzu avelele
Kunezindlela eziningi lapho ukulandelana kwe-genome / genomic kwamasampuli omdlavuza weziguli kungaba usizo, okuhlanganisa ukubikezela ingozi yomdlavuza, ukubikezelwa komdlavuza nokuxilongwa, kanye nokuhlonza komuntu siqu nokunemba umdlavuza ukwelashwa. Kunezinkampani eziningi ezihlinzeka ngokuhlolwa kokulandelana kofuzo okuhlukahlukene komdlavuza futhi ukuhlolwa okufanele kuzodinga ukukhonjwa ngokusekelwe kumongo othize kanye nohlobo lomdlavuza. Okunye ukuhlolwa kolibofuzo okwenziwa yilezi zinkampani kufakwa umshwalense kodwa okuningi kuncike ekuzikhokheleni.
Ukuskena ngezibuyekezo, izindatshana, amabhulogi, izincomo njll ukuthumela ukuxilongwa komdlavuza kungakhungathekisa. Kunolwazi oluningi, amatemu amasha kanye nezivivinyo ezinconyiwe iningi lethu elingenalwazi ngazo. Ukulandelana kwesigaxa, ukufakwa komdlavuza / isimila, ukulandelana kwesizukulwane esilandelayo, amaphaneli aqondisiwe, ukulandelana okuphelele, izici zamangqamuzana zomdlavuza, yizo zonke izingxoxo esihlangana nazo. Kusho ukuthini lokhu futhi kusiza kanjani lokhu?
Yini iCancer Genome / Genomic Sequicing?
Ake siqale ngezisekelo ezithile zomdlavuza. Umdlavuza ukukhula okungalawulwa kwamaseli athile emzimbeni wethu asephenduke abangajwayelekile ngenxa yokuqongelelwa kwezinguquko zofuzo kwi-DNA yethu yeselula, ebizwa ngokuthi ukuguquka kwezakhi zofuzo noma ukuguquguquka kwe-genomic. I-DNA yakhiwe ngama-nucleotide ama-4 alfabhethi, ukulandelana kwawo okwenza izakhi zofuzo ezinikeza iziyalezo zokwenza amaprotheni aqhuba imisebenzi yamaseli, izicubu nezitho zethu. Ukulandelana kukhishwa kokuqukethwe kokuqukethwe kwamaseli. I-DNA evela kumaseli womdlavuza namaseli ejwayelekile angewona umdlavuza angahlukaniswa futhi ngenxa yemisebenzi emisha nentuthuko kubuchwepheshe bokulandelana kwesizukulwane esilandelayo, ingacaciswa ezingeni lokulandelana kwe-nucleotide. Ukuqhathaniswa kokulandelana komdlavuza nokulawulwa kwe-DNA kunikeza imininingwane ngezinguquko ezintsha nezitholakele okuthi lapho zihlaziywa ngokuqhubekayo zinikeze ukuqonda ngokungajwayelekile okuyikho okushayela lesi sifo.
Izinhlobo Ezihlukile Zokulandelana
Ukuhlonzwa kokuguqulwa kwe-genomic nokungahambi kahle kungenziwa ngamasu nokuhlola okuhlukahlukene okuhlanganisa i-cytogenetic karyotyping, ukukhuliswa kwezifunda ezithile ze-DNA ngokusebenzisa i-polymerase chain reaction (PCR), ukuhlonzwa kokungajwayelekile okuthile kanye nokuhlanganisa kusetshenziswa i-fluorescence in situ hybridization (INHLANZI), ukulandelana kwe-genomic iphaneli eqondiwe yezakhi zofuzo eziqondene nomdlavuza, noma ukulandelana kwesethi ephelele yofuzo ebizwa ngokuthi i-whole-exome sequencing (WES) noma yonke i-DNA yeseli ingalandelana njengengxenye yokulandelana kwe-whole-genome (WGS). Ukuze kusetshenziswe emtholampilo we umdlavuza ukwenza iphrofayili, inketho ekhethwayo ihloselwe ukulandelana kwephaneli yofuzo yezakhi zofuzo ezithile zomdlavuza ebangeni lama-30 - 600 wofuzo, kuyilapho i-WES ne-WGS isetshenziswa kakhulu esizindeni socwaningo. Izinzuzo zokulandelana okuhlosiwe izindleko eziphansi, ukujula okukhulu kokulandelana nokuhlaziywa okujulile kwezifunda ezithile ze-DNA ezingaba abashayeli ababalulekile bomdlavuza.
Ukudla Okufanele Ukudla Ngemuva Kokuxilongwa Komdlavuza!
Akukho mdlavuza owodwa ofanayo. Dlulela ngale kwemihlahlandlela ejwayelekile yokudla kuwo wonke umuntu futhi wenze izinqumo ezenziwe ngezifiso ngokudla nezithasiselo ngokuzethemba.
Ngabe Ukulandelwa Komdlavuza Womdlavuza Kuyasiza - Ziyini Izinzuzo Zayo?
Esigulini somdlavuza, umuntu udinga ukukhetha iphaneli lokuhlola elifanele lohlobo lomdlavuza othile. Imidlavuza ehlukene ihlotshaniswa namasethi ehlukene wokuguqulwa kwezakhi zofuzo namaphaneli aqondisiwe avela ezinkampanini ezahlukahlukene ahlanganisa amasethi wezakhi zofuzo ezahlukahlukene. Ukujula okuphezulu kokumbozwa kwezifunda ze-genomic ezilandelwayo kunezinzuzo ngaphezu kobubanzi bokusabalala umuntu angakuthola nge-WES kepha kungahle kuphuthelwe okutholakele okubalulekile. Kusekhona ukungabi bikho kokumiswa kokuhlolwa kokulandelana nokuhlukahluka kwemiphumela lapho kulandelwa i-DNA kusuka kusampula efanayo ekuhlolweni okuhlukahlukene, ezimweni eziningi. Kukhona futhi ukwahlukahlukana ngokulandelana okususelwa ekutheni iyiphi ingxenye yesampuli yesimila elandelwayo nokwehluka okubonwayo phakathi kokulandelana kwe-DNA kusuka kusampula yesicubu esiqinile kanye nokujikeleza kwesimila se-DNA esigulini esifanayo. Kodwa-ke, yize kunezinselelo ezahlukahlukene, imininingwane etholakala ekulandelaneni komdlavuza ngokwenqubo ingaba wusizo olukhulu ngezindlela eziningi njengoba kubuyekezwe ososayensi abavela e-Wellcome Sanger Institute e-United Kingdom (UNanglia noCampbell, iNew Engl J Med., 2019).
Ezinye zezindlela lapho ukulandelana komdlavuza / ukulandelana kwe-genomic kungasiza ekuhloleni, ekunqumeni ukwelashwa nokuqapha umdlavuza kubalwe ngezansi:
- Ukubikezela ingozi yomdlavuza kumuntu ophilile ongaba nomlando womndeni womdlavuza. Ukulandelana kwe-DNA kusampula yegazi lomuntu ophilile kunganikeza imininingwane ngokushintshwa okukhona kwamagciwane okungahle kube khona futhi kungakhuphula ingozi yomdlavuza yangomuso. Isib. ukutholakala kokuguqulwa kohlobo lomdlavuza ku-BRCA, APC noma i-VHL.
- I-Pharmacogenomics - i-germline genomics ingakhomba i-nucleotide polymorphisms eyodwa (i-SNPs) kuma-enzyme ehlanganisa izidakamizwa angasetshenziswa ukukhomba iziguli ezisengozini yemiphumela enobuthi ye-chemotherapy.
- I-Epidemiology kanye neMpilo Yomphakathi - ukulandelana kwe-genomic kwamathumba asuka ezifundeni lapho kunezigameko eziphezulu zohlobo oluthile lomdlavuza kungasiza ekuboneni imvelo, ukudla noma okunye ukuvezwa okungadala izehlakalo eziphezulu zomdlavuza.
- Ukulandelana kwezilonda zakuqala kungasiza ekunqumeni ukubikezelwa kwalesi sifo kanye nesidingo sokungenelela. I-Genomics enezinombolo eziningi zokuguqulwa / ukuguqulwa kanye nohlobo lwezinguquko, ingakhonjwa njengalezo ezidinga ukungenelela kwangaphambi kwesikhathi nangolaka.
- Ukuxilongwa komdlavuza ngokukhonjwa kwezinguquko zomshayeli njenge-BCR_ABL, KRAS, TP53 nezinye kungaqinisekisa umdlavuza oyimbangela yawo.
- Ukuhlonza izicubu zomsuka we umdlavuza kwesisekelo esingaziwa. Ukuguqulwa okuqondile kuhlotshaniswa nezinhlobo ezithile zomdlavuza.
- Ukuhlukaniswa kwamathumba kungenziwa ngesisekelo sokwakheka kokushintshwa kwezinguquko zomshayeli futhi kuxhunywe kwisayensi yezinto eziphilayo ezingelashwa ngezindlela ezithile zokwelashwa eziqondisiwe.
- Ukubikezela imiphumela yesiguli futhi unikeze ukubikezela okungcono okususelwa kudatha yomtholampilo neye-genomic. Isib. Izimila ezinezinguquko ze-TP53 zinezibikezelo ezimbi kakhulu.
- Ukulandelana kwe-genome kusiza ekwelashweni komdlavuza we-Precision- iziguli ezinomdlavuza zinokuguquka okuningi futhi umphelelisi wezinguquko uhlukile kuzo zonke iziguli ezinomdlavuza. Ngakho-ke, ukuhlonza ukwelashwa okuhlanganisiwe okwenziwe ngezifiso futhi okwenziwe ngokwezifiso okungabhekana nomthelela wakho konke ukungajwayelekile kungaba i-grail engcwele yokwelashwa komdlavuza.
- Ukukhomba izindlela zokumelana ngokulandelana komdlavuza ongaphendulanga ekwelashweni okunqunyiwe.
- Ukuqapha umdlavuza ngokusebenzisa i-liquid biopsy yokusabalalisa i-tumor DNA noma ukujikeleza amaseli we-tumor kungasiza ekuboneni ukuphindaphinda kwesifo noma ukubuyela emuva ngaphandle kwe-biopsy noma ukuhlinzwa okuhlaselayo.
Ngakho-ke, njengoba kubaliwe, kunezindlela eziningi zokuthi umdlavuza Ukulandelana kwe-genomic/genome kungaba usizo okuhlanganisa ukubikezela ingozi yomdlavuza, ukubikezelwa komdlavuza nokuxilongwa, kanye nokuhlonza ukwelashwa komdlavuza komuntu siqu nokunembayo, nakuba kungajwayelekile emikhubeni eminingi ye-oncology.
Ungakutholaphi ukuhlolwa kweCancer ye-Genetic yeCancer?
Kunezinkampani eziningi ezihlinzeka ngokuhlolwa kwe-genomic / genetic sequining test ngokuya ngamathe noma amasampuli egazi anamandla ahlukile njengoba kushiwo ngenhla azodinga ukukhonjwa ngokuya ngomongo othile, uhlobo lomdlavuza kanye nenjongo. Kunezivivinyo ezimbalwa zofuzo zomdlavuza ezinikezwa yilezi zinkampani manje ezibuyiselwa ngezinhlelo zikahulumeni ezifana neMedicare noma i-NHS kepha emazweni amaningi anjengeNdiya neChina, lezi zivivinyo zikhokhelwa yiziguli. Sicela uthintane nabanikezeli bakho bezempilo kanye nabanikezeli bomshuwalense ukuthola imininingwane ngokuhlolwa kofuzo komdlavuza okuhlanganiswe nohlelo lwakho. Ungahlola futhi leli khasi ukuthola i- uhlu kokuhlolwa okwamukelekile kofuzo engcupheni yomdlavuza.
Ukudla okudlayo nokuthi yikuphi okunezelayo okwenzayo yisinqumo osithathayo. Isinqumo sakho kufanele sifake ukucutshungulwa kwezakhi zofuzo zomdlavuza, okuwumdlavuza, ukwelashwa okuqhubekayo kanye nezithasiselo, noma yikuphi ukungezwani komzimba, imininingwane yokuphila, isisindo, ubude nemikhuba.
Ukuhlelela okunomsoco komdlavuza kusuka ku-addon akususelwa ekusesheni kwe-inthanethi. Kwenzela wena ukuthathela izinqumo ngokuya ngesayensi yamangqamuzana eyenziwe ososayensi bethu nonjiniyela be-software. Kungakhathalekile ukuthi ngabe uyakukhathalela ukuqonda okuyisisekelo kwamakhemikhali amakhemikhali noma cha - wokuhlelela umsoco ukuhlela lokho kudinga ukuqonda.
Qalisa MANJE ngokuhlela kwakho okunomsoco ngokuphendula imibuzo egameni lomdlavuza, ukuguquka kwezakhi zofuzo, ukwelashwa okuqhubekayo kanye nezithasiselo, noma yikuphi ukungezwani komzimba, imikhuba, indlela yokuphila, iqembu lobudala nobulili.
Ukudla Okungokwakho Komdlavuza!
Umdlavuza uyashintsha ngokuhamba kwesikhathi. Enza ngendlela oyifisayo futhi uguqule umsoco wakho ngokusekelwe kunkomba yomdlavuza, ukwelashwa, indlela yokuphila, okuncamelayo kokudla, izinto ezingakuphathi kahle nezinye izici.
Iziguli ezinomdlavuza ngokuvamile kufanele zibhekane nokuhlukile imiphumela emibi ye-chemotherapy ezithinta ikhwalithi yempilo yazo futhi zibheke ezinye izindlela zokwelapha umdlavuza ukudla okunomsoco nezithasiselo ezisuselwa ekucabangeni kwesayensi (ukugwema ukuqagela nokukhetha okungahleliwe) yikhambi elingcono kakhulu lemvelo lomdlavuza nokwelashwa okuhlobene okuqhamuka uma udla imishanguzo.