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Nā kumu o ka Sequencing Genomic Cancer a me nā ala he nui i hiki ke hoʻohana ʻia

Aug 5, 2021

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Home » Blogs » Nā kumu o ka Sequencing Genomic Cancer a me nā ala he nui i hiki ke hoʻohana ʻia

o ka Naauao

Nui a hewahewa nā ala ma ke kaʻina genome / genomic o nā laʻana maʻi ʻaʻai o nā maʻi hiki ke kōkua, e komo pū me ka wānana pilikia maʻi 'aʻai, prognosis a me ka maʻi maʻi 'aʻai, a me ka hoʻomaopopo ʻana i ka pilikino a me ka pololei Ka maʻi 'aʻai lapaʻau. Nui nā ʻoihana e hāʻawi ana i nā hoʻāʻo hoʻāʻo genetic sequencing no ka maʻi kanesa a pono e ʻike ʻia ka hoʻāʻo kūpono ma muli o ke ʻano kikoʻī a me ke ʻano maʻi kanesa. Ua uhi ʻia kekahi mau hoʻokolohua genetic i hāʻawi ʻia e kēia mau ʻoihana e ka ʻinikua akā ʻo ka hapa nui e pili ana i ka uku pilikino.



ʻO ka nānā ʻana ma o nā loiloi, nā ʻatikala, nā blog, nā ʻōlelo aʻoaʻo a pēlā aku e kau i kahi maʻi ʻaʻai. Nui a hewahewa nā ʻike, nā huaʻōlelo hou a me nā hoʻokolohua i paipai ʻia a ka hapanui o mākou e clueless e pili ana. ʻO ke kaʻina Tumor, ka maʻi ʻaʻai / ʻōiwi, ka hoʻouluulu ʻana o ka hanauna hou, nā panela i kuhikuhi ʻia, ke kaʻina holoʻokoʻa holoʻokoʻa, nā ʻano moleola o ka maʻi ʻaʻai, ʻo ia ka jargon āpau a mākou e hālāwai ai. He aha ke ʻano o kēia a pehea e kōkua ai kēia mau mea?

He kōkua maikaʻi paha ke kolohe genomic Sequencing - hoʻāʻo genetika no ka maʻi ʻaʻai

He aha ke kuhi genome / genomic Sequencing?


E hoʻomaka kākou me kekahi mau kumu maʻi ʻaʻai. ʻO ka maʻi ʻaʻai kahi ulu ulu ʻole ʻia o kekahi mau hunaola i loko o kā mākou kino i lilo i ʻano maʻamau ʻole ma muli o ka hōʻiliʻili ʻana o nā hoʻololi kūlohelohe i kā mākou cellular DNA, i kapa ʻia he mutation a i ʻole genomic aberrations. Hana ʻia ʻo DNA e nā 4 alpabet nucleotides, ke kaʻina o nā ʻāpana e hāʻawi i nā ʻōkuhi e hana i nā protein e hoʻohuli i nā hana o kā mākou pūnaewele, nā aʻa a me nā meaola. ʻO ke kau ʻana ka wehewehe ʻana o ka ʻike genomic o nā hunaola. Hiki ke hoʻokaʻawale ʻia ka DNA mai nā hunaola maʻi ʻaʻai a me nā hunaola maʻi ʻaʻai ʻole maʻamau a mahalo i nā hana hou a me nā holomua o nā ʻenehana hōʻuluʻulu hanauna hou, hiki ke wehewehe ʻia i ke kiʻekiʻe o ke kaʻina nucleotide. Hoʻohālikelike ka hoʻohālikelike ʻana o ka maʻi ʻaʻai a me ke kaʻina DNA i ka ʻike e pili ana i nā loli hou a loaʻa i ka wā i loiloi hou ʻia e hāʻawi i ka ʻike i nā ʻano kūlohelohe e hoʻokele nei i ka maʻi.

Nā ʻano ʻokoʻa o ke kaʻina kau


Hiki ke hana ʻia ka ʻike ʻana i nā genomic mutations a me nā mea ʻino ma o nā ʻano hana like ʻole e like me ka karyotyping cytogenetic, ka hoʻonui ʻana i nā wahi kikoʻī o DNA ma o ka polymerase chain reaction (PCR), ka ʻike ʻana i nā mea ʻino a me nā hui ʻana me ka fluorescence in situ hybridization (FISH), genomic sequencing o hiki ke hoʻonohonoho ʻia kahi papa kuhikuhi o nā genes kikoʻī maʻi kanesa, a i ʻole ke kaʻina ʻana o ka pūʻulu piha o nā genes i kapa ʻia ʻo whole-exome sequencing (WES) a i ʻole ka DNA holoʻokoʻa o ke kelepona hiki ke hoʻopaʻa ʻia ma ke ʻano o ka holoʻokoʻa-genome sequencing (WGS). No ka hoʻokō lapaʻau o Ka maʻi 'aʻai profileing, ʻo ka koho i makemake ʻia ʻo ia ka hoʻopaʻa ʻana o ka gene panel sequencing o nā genes kikoʻī maʻi maʻi i ka laulā o 30 - 600 genes, ʻoiai ʻo WES a me WGS e hoʻohana hou ʻia i ka domain noiʻi. ʻO nā pōmaikaʻi o ka hoʻonohonoho ʻana i hoʻopaʻa ʻia ʻo ia nā kumukūʻai haʻahaʻa, ʻoi aku ka hohonu o ka hoʻonohonoho ʻana a me ka nānā hohonu ʻana o nā wahi kikoʻī o DNA hiki ke lilo i mea hoʻokele nui no ka maʻi kanesa.

Nā Mea ʻai e ʻAi ai Ma hope o ka ʻike maʻi ʻaʻai!

ʻAʻohe ʻelua maʻi ʻaʻai. E hele i waho o nā kulekele meaʻai maʻamau no kēlā me kēia kanaka a hoʻoholo i nā koho pilikino e pili ana i ka meaʻai a me nā mea hoʻopihapiha me ka hilinaʻi.

Kōkua ʻia ke kaʻina genomic cancer - he aha nā pono?


No kahi mea maʻi maʻi maʻi, pono i kekahi e koho i ka paneli hoʻāʻo kūpono no kā lākou ʻano maʻi ʻaʻai ponoʻī. Hoʻopili ʻia nā maʻi ʻokoʻa me nā hoʻonohonoho like ʻole o ka hoʻololi ʻana o nā ʻāpana a me nā panela i kuhikuhi ʻia mai nā hui like ʻole e uhi i nā ʻano ʻenekahi. ʻO kahi hohonu ʻoi aʻe o ka uhi ʻana o nā ʻāpana genomic e ʻoka ʻia ana he maikaʻi ma mua o ka laulā o ka uhi ʻana i hiki i kekahi ke loaʻa me WES akā e hke paha ia i kekahi ʻike nui. Aia nō ka hemahema o ka hana maʻamau ma o nā hōʻike hoʻokaʻina ʻana a me nā loli i nā hopena ke hoʻokaʻawale ʻana i ka DNA mai ka hāpana like ma nā hoʻokolohua like ʻole, i nā manawa he nui. Aia kekahi ʻano like ʻole i ke kaʻina e pili ana i ka ʻāpana o ka hāpana hikoko i hoʻopaʻa ʻia a ʻike ʻia nā ʻokoʻa ma waena o ke kaʻina ʻana o ka DNA mai kahi ʻāpana kiko paʻa paʻa a me ka hoʻopuni ʻana i ka DNA tumo mai ka mea maʻi like. Eia nō naʻe, ʻoiai nā pilikia like ʻole, ʻo ka ʻike i loaʻa mai ke kaʻina genomic o ka maʻi ʻaʻai hiki ke lilo i mea maikaʻi ma nā ʻano he nui e like me ka loiloi ʻia e nā ʻepekema mai ka Wellcome Sanger Institute ma United Kingdom (ʻO Nanglia lāua ʻo Campbell, New Engl J Med., 2019).

Kaʻai pilikino pilikino no ka maʻi ʻaʻai maʻi ʻaʻai | E kiʻi i ka ʻike hiki ke hana

ʻO kekahi o nā ala e hiki ai i ke genome cancer / genomic sequencing ke kōkua ma ke kuhi ʻana, ka hoʻoholo ʻana i ka mālama ʻana a me ka nānā ʻana i ka maʻi ʻaʻai i helu ʻia ma lalo:

  • ʻO ka wānana ʻana i ka maʻi ʻaʻai Kanesa ma kahi olakino i loaʻa ka moʻolelo ʻohana o ka maʻi ʻaʻai. Hiki ke hāʻawi ʻia ke kaʻina o DNA mai ka hāpana koko o kahi kanaka olakino i ka ʻikepili e pili ana i nā hoʻololi germline e kū nei a e hoʻonui paha i ka maka maʻi ʻaʻai o ka wā e hiki mai ana. Eg. ke kū ʻana o nā hoʻololi kūlohelohe maʻi maʻi maʻi i BRCA, APC a i ʻole VHL.
  • Pharmacogenomics - germline genomics hiki ke hoʻomaopopo i hoʻokahi nucleotide polymorphism (SNPs) i ka lāʻau metabolizing metabolism i hiki ke hoʻohana e ʻike i nā mea maʻi i ka makaʻu no nā lāʻau ʻino o chemotherapy.
  • ʻO ka Epidemiology a me ke olakino lehulehu - ke kaʻina genomic o nā tumors mai nā wahi kahi kahi nui o kahi ʻano maʻi ʻaʻai e kōkua paha i ka ʻike ʻana i ke kaiapuni, kaʻai a i ʻole nā ​​hōʻike ʻē aʻe i hiki ke hoʻokumu ʻia i nā hanana kiʻekiʻe o ka maʻi ʻaʻai.
  • Hiki ke kōkua i ke kau ʻana o nā leona mua me ka hoʻoholo ʻana i ka wānana o ka maʻi a me ka pono no ke komo ʻana. ʻO nā genomics me nā helu hou aʻe o nā mutation / aberrations a me ke ʻano o nā mutation, hiki ke ʻike ʻia ma ke ʻano he mea e pono ai i ka wā mua a me ka hakakā.
  • Hiki ke hōʻoia i ka maʻi ʻaʻai ma ka ʻike ʻana i nā hoʻololi o ka hoʻokele e like me BCR_ABL, KRAS, TP53 a me nā mea ʻē aʻe i ka maʻi ʻaʻai.
  • ʻIke ʻia o ka ʻiʻo kumu no Ka maʻi 'aʻai o ka mea mua i ike ole ia. Hoʻopili ʻia nā hoʻololi kikoʻī me nā ʻano maʻi kanesa.
  • Hiki ke hana ʻia ka hoʻolauleʻa Tumor ma ke kumu o ka hoʻohui ʻana o nā mutation kalaiwa a ua hoʻopili ʻia i kahi biology maʻi e hiki ke mālama ʻia me nā ʻano lāʻau hoʻomoe kikoʻī.
  • Ke wānana nei i nā hopena o ka mea maʻi a hāʻawi i ka wānana ʻoi aku ka maikaʻi e pili ana i ka ʻike maʻi a me ka genomic. Eg. ʻO nā tumors me TP53 mutations i loaʻa ka wānana maikaʻi ʻole.
  • Kōkua ke kaʻina genome me ka mālama ʻana i ka maʻi ʻaʻai Precision- He nui nā hoʻololi ʻana o nā mea maʻi ʻaukā a he kū hoʻokahi ka mea kōkua o nā hoʻololi no kēlā me kēia mea maʻi maʻi maʻi. No laila, ʻo kahi ʻike pilikino pilikino a pilikino ʻia e ʻike ʻia ai hiki ke kuhikuhi i ka hopena o nā hanana āpau e lilo i grail hemolele no ka mālama ʻana i ka maʻi ʻaʻai.
  • Keʻike nei i nā ʻano kūʻē e ke kaʻina ʻana o ka maʻi ʻaʻai i pane ʻole i nā lāʻau i kuhikuhi ʻia.
  • Hiki ke kōkua i ka nānā ʻana i ka maʻi ʻaʻai ma o ka biopsy wai o ka DNA neʻe a i ʻole nā ​​kaola tumola e ʻike ai i ka hoʻi hou ʻana o ka maʻi a i ʻole ke hoʻi hou ʻana me ka ʻole o kahi biopsy a me kahi ʻoki.

No laila, e like me ka mea i hōʻike ʻia, aia nā ala he nui Ka maʻi 'aʻai Hiki ke kōkua ʻia ke kaʻina hana genomic/genome e pili ana i ka wānana ʻana i ka maʻi kanesa, ka wānana a me ka hōʻoia ʻana i ka maʻi kanesa, a me ka hoʻomaopopo ʻana i ka mālama ʻana i ka maʻi maʻi pilikino a me ka pololei, ʻoiai ʻaʻole ia he mea nui i ka hapa nui o ka hana oncology.

Ma hea e hiki ai iā ʻoe ke kiʻi i ka hōʻike genetic Sequencing Test no ka maʻi ʻaʻai?

Aia kekahi mau ʻoihana e hāʻawi nei i nā hoʻokolohua genomic / genetic sequencing e pili ana i ka lawai a i ʻole nā ​​hāpana koko me nā mana like ʻole e like me ka mea i ʻōlelo ʻia ma luna e pono ai e ʻike ʻia ma muli o ka ʻike kikoʻī, ka maʻi ʻaʻai a me ke kumu. Aia kekahi mau hoʻokolohua kūlohelohe no ka maʻi ʻaʻai i hāʻawi ʻia e kēia mau ʻoihana i kēia manawa e uku ʻia e nā hoʻolālā aupuni e like me Medicare a i ʻole NHS akā ma nā ʻāina he nui e like me India a me Kina, uku ʻia kēia mau hoʻokolohua e nā mea maʻi. E ʻoluʻolu e kūkākūkā me kāu poʻe lawelawe olakino a ʻinikua hoʻi e kiʻi i ka ʻike e pili ana i nā hoʻāʻo genetika no ka maʻi ʻaʻai i uhi ʻia i kāu hoʻolālā. Hiki iā ʻoe ke nānā i kēia ʻaoʻao no ka papa o nā hoʻokolohua kūlohelohe i ʻae ʻia no ka makaʻu maʻi ʻaʻai.

He aha nā meaʻai āu e ʻai ai a me nā mea hoʻopihapiha āu e lawe ai i hoʻoholo. Pono e hoʻoholo i kāu hoʻoholo ʻana e pili ana i ka hoʻololi ʻana i nā ʻāpana o ka maʻi ʻaʻai, ka maʻi ʻaʻai, nā lāʻau e hoʻomau nei a me nā mea hoʻopihapiha, nā maʻi āpau, nā ʻike nohona, ke kaupaona, ke kiʻekiʻe a me nā ʻano.

ʻAʻole hoʻokumu ʻia ka hoʻolālā meaʻai no ka maʻi ʻaʻai mai addon ma ka ʻimi pūnaewele. Hoʻokele ia i ka hoʻoholo ʻana iā ʻoe ma muli o ka ʻepekema molekole i hoʻokō ʻia e ko mākou ʻepekema a me nā ʻenekini polokalamu. Nānā ʻole inā ʻoe e noʻonoʻo e hoʻomaopopo i ke ʻano o nā ʻolaola biōmika kumu a i ʻole ʻole - no ka hoʻolālā meaʻai no ka maʻi ʻaʻai e pono ai ka ʻike.

E hoʻomaka I K NOWIA manawa me kāu hoʻolālā meaʻai e ka pane ʻana i nā nīnau e pili ana i ka inoa o ka maʻi ʻaʻai, ka hoʻololi ʻana o nā kūpuna, nā mālama ʻana a me nā mea hoʻopihapiha mau, nā maʻi āpau, nā ʻano, ka nohona, nā makahiki a me nā kāne.

hōʻike hōʻike

Mea 'ai pilikino no ka ma'i 'a'ai!

Hoʻololi ka maʻi kanesa me ka manawa. Hoʻopilikino a hoʻololi i kāu meaʻai e pili ana i ka hōʻailona maʻi maʻi, ka mālama ʻana, ke ʻano o ka nohona, nā makemake meaʻai, nā allergies a me nā mea ʻē aʻe.


ʻO nā mea maʻi maʻi maʻi e hana pinepine me nā mea ʻokoʻa nā hopena ʻaoʻao chemotherapy e pili ana i ko lākou ola a nānā aku no nā hoʻoponopono ʻē aʻe no ka maʻi ʻaʻai ka meaʻai kūpono a me nā mea hoʻopihapiha e pili ana i nā noʻonoʻo ʻepekema (ka hōʻalo ʻana i ka wānana a me ke koho wale ʻana) ʻo ia ka lāʻau kūlohelohe maikaʻi loa no ka maʻi ʻaʻai a me ka lāʻau e pili ana nā hopena ʻaoʻao.


Nānā ʻepekema e: Kauka Cogle

ʻO Christopher R. Cogle, MD he polopeka paʻa ma ke Kulanui o Florida, Luna Lapaʻau Nui o Florida Medicaid, a me Luna Hoʻokele o ka Florida Health Policy Leadership Academy ma ka Bob Graham Center for Public Service.

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