Whakamāramatanga o ngā tuhinga
I whakaputaina i roto i te European Journal of Human Genetics tētahi rangahau hou mō te whakatinanatanga o te whakamātautau pharmacogenetic (PGx) i Itari, e whakaahua ana i te tohatoha o ngā ratonga whakamātautau PGx, ngā tono hangarau, te whakatinanatanga haumanu, ngā rerekētanga ā-rohe, me ngā raruraru o nāianei i Itari, e whakarato ana i tētahi pūtake taunakitanga mō te whakatairanga paerewa o te pharmacogenetics i Itari me ētahi atu whenua Pākehā.
I. Papamuri me te Kaupapa
I tēnei wā, he pakarukaru te whakamahinga haumanu o te hangarau PGx i Itari, kāore he tikanga whakakotahi ā-motu me te tikanga whakamana tahi. Hei whakamārama i te whenua whakamātautau rongoā-ira o te whenua, i whakahaerehia e te tīma rangahau he rangahau taiwhanga ā-motu mai i Hanuere ki Oketopa 2025. Ko ngā whāinga matua ko:
-Hei mahere i te mahere tohatoha me te mahere ratonga o ngā taiwhanga whakamātautau rongoā ira i Itari;
-Hei whakamārama i ngā rerengamahi whakamātautau, ngā panera ira, ngā tikanga hangarau, me ngā paerewa whakamaoritanga;
-Hei whakaatu i ngā rerekētanga ā-rohe me ngā arai whakatinanatanga, me te whakarato tautoko raraunga mō te paerewa ā-motu.
II. Ngā Hua Matua
Ngā āhuatanga taketake o ngā taiwhanga
Āhuatanga whakahaere: 49 ngā whakahaere i whai wāhi, 82% o ēnei he whakahaere tūmatanui, ā, 18% noa iho he whakahaere tūmataiti.
-Ngā tari mahi: Ko ngā tari ira hauora te mea nui rawa atu (39%), ā, whai muri ko ngā tari pathology haumanu me te biochemistry (18%), me ngā tari pharmacology haumanu (12%).
Te whakamātautau i ngā tono me ngā whāinga ira
Ngā horopaki tono matua:He tino nui te aro o ngā whakamātautau PGx ki te mate pukupuku. 94% (46 ngā taiwhanga) i whakahaere i te whakamātautau ira dihydropyrimidine dehydrogenase (DPYD) e pā ana ki te whakamahinga o te fluoropyrimidine, ā, 84% (41 ngā taiwhanga) i whakahaere i te whakamātautau ira uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) e pā ana ki te whakamahinga o te irinotecan.
Ētahi atu whakamātautau:He onge noa iho ngā taiwhanga i whakahaere i ngā whakamātautau mō ngā ira e pā ana ki te azathioprine, clopidogrel, warfarin, me ētahi atu (TPMT, CYP2C19, CYP2C9, VKORC1, me ētahi atu).
Hangarau me te piripono ki ngā paerewa
Rautaki whakamātautau: Ko te 100% o ngā whakamātautau DPYD me te 97% o ngā whakamātautau UGT1A1 he whakamātautau i mua i te maimoatanga; ko te CYP2C19 me te HLA B he whakamātautau ā-haurua te nuinga; ko te nuinga o te whakamātautau CYP2D6 he tauhohe, i mahia i muri i te putanga mai o ngā tauhohenga kino.
Ngā tikanga hangarau:Ko te PCR wā-tūturu te tikanga i whakamahia whānuitia; ko te NGS te nuinga o te wā i whakamahia hei kimi i te ira HLA B; i roto i ngā whare wānanga i whakaputa hua, kotahi anake te taiwhanga i whakamahi i te raupapatanga exome katoa (WES).
Te piripono paerewa:He nui te ōrau o ngā taiwhanga i whai i ngā aratohu a te Italian Society of Pharmacology/Italian Association of Medical Oncology (SIF/AIOM) me ngā aratohu a te Clinical Pharmacogenetics Implementation Consortium (CPIC)/Dutch Pharmacogenetics Working Group (DPWG).
Te whakamaoritanga me te whakawhitiwhiti kōrero mō ngā hua
Waitohu pūrongo:E 65% o ngā pūrongo whakamātautau i hainatia e ngā tohunga ira, e 31% nā ngā tohunga pathology haumanu/matū koiora.
Whakamārama haumanu: E 90% o ngā taiwhanga i whakarato i te whakamārama, e 73% i tohu i te mōrearea o te paitini/koretake, engari e 24% anake i whakarato i ngā taunakitanga horopeta rongoā motuhake.
Kōrerorero rongoā:29% noa iho o ngā taiwhanga i tuku ratonga kōrero rongoā, ā, tata kore rawa ēnei i whakaratohia e ngā tari rongoā haumanu – he iti noa iho i whakaratohia e ngā tari ira me ngā tari pathology.
Whakaaetanga whai mōhio:73% o ngā taiwhanga i whakatinana i ngā tikanga whakaaetanga whai mōhiohio motuhake, whānui rānei mō te pharmacogenetics.
Te tohatoha ā-rohe:I tino kaha te mahi whakamātautau ki te raki o Itari. I roto i ngā taiwhanga he nui ake i te 200 ngā whakamātautau ā-tau, e 23 i te raki, e 4 i te pokapū, me te 6 i te tonga me ngā moutere – he tino koretake te tohatoha ā-rohe o ngā whare whakamātautau.
Rōrahi whakamātautau:E 69% o ngā taiwhanga he nui ake i te 200 te rahinga whakamātautau ā-tau, ā, e 19% he 100 200.
Kaupapa here whakahoki moni:I roto i ngā taiwhanga i rangahauhia, 73% i whiwhi utu katoa mai i te Pūnaha Hauora ā-Motu (NHS), 22% utu wāhanga, ā, 4% kāore i whiwhi utu. Kāore i rite ngā ture utu ā-rohe. I tēnei wā, kāore he waehere nama/utu motuhake a Itari mō te whakamātautau pharmacogenetic, ā, ka nui te pōhēhētanga o te whakatinanatanga puta noa i ngā rohe.
III. Kōrero me ngā Whakatau Matua
Te tūranga matua i roto i te oncology– Kua horapa haere te whakamātautau DPYD me te UGT1A1 nā te whakatairanga i ngā aratohu mai i te Tari Rongoā Pākehā (EMA) me te Tari Rongoā Itari (AIFA). Heoi, kāore i te rawaka te whakamahinga o te whakamātautau rongoā-ira i roto i ngā mara kore-oncology.
Hangarau me te whakamaoritanga kore-taurite– Kāore he paerewa kotahi mō ngā panera whakamātautau, ngā matū, ngā taputapu koiora-pārongo, ngā paearu whakamaori rānei, ā, kāore i te pai te whakataurite i ngā hua.
Kāore i te rawaka te mahi tahi a te tini me te mano– Te iti o te whai wāhi mai a ngā tohunga rongoā, me te kore e ranea te kapinga o ngā ratonga kōrero rongoā haumanu.
Te kore taurite nui o te rohe– Ko ngā rauemi whakamātautau PGx kei ngā whare hauora o te raki te nuinga e arohia ana, me te iti o ngā rauemi kei ngā rohe o waenganui me te tonga – he hapa taurite.
Te ngoikore o te tautoko kaupapa here– Kāore i te whai anga ā-motu kotahi mō te whakamātautau rongoā-ira i Itari, ā, ko te mutunga iho he pūnaha whānui kāore i oti mō te utu, te ture, te whakangungu, me ētahi atu.
Whakarāpopototanga
Ko tēnei rangahau te aromatawai tuatahi ā-motu mō te tūnga whakatinanatanga o te rongoā ira i Itari. E whakaū ana kua whakatinanahia te rongoā ira i Itari i te tuatahi i roto i te mara oncology, engari i te nuinga o te wā he wehewehe, kāore i te paerewahia, kāore i te ōrite te rohe, ā, he maha ngā momo kaupapa kore e hono ana. Nō reira, ko te whakatū i tētahi anga whakaritenga ā-motu, te whakakotahi i ngā paerewa hangarau me te whakamaoritanga, me te whakapai ake i ngā kaupapa here me te whakangungu ngā mea e hiahiatia ana e Itari ā muri ake nei kia tutuki ai te tono haumanu paerewa o te whakamātautau rongoā ira, hei tohutoro nui mō ētahi atu whenua Pākehā.
Whakamātautau-Makro me te Moroiti'sOtinga Pharmacogenomics Aunoa Katoa
-NgāwariTe utaina o te tauira me ngā ngongo taketake, te oma kotahi te kī, te aunoatanga o te tauira-ki-te-hua, te whakaurunga maeneene ki te LIS/HIS.
-TereKa puta ngā hua i roto i te kotahi hāora mō te tukanga katoa, me te ārahi tika i ngā tikanga rongoā whaiaro.
-NgāwariMā te tūāpapa HWTS AIO800, kāore te whakamātautau PGx e herea ana e ngā here o te pae – he ngāwari, he maha hoki ngā huarahi e taea ai.
-WhānuiHe whānuitanga hua whai rawa e kapi ana i ngā mate ngakau me ngā mate roro, ngā mate hinengaro, te maimoatanga matepukupuku, te whānautanga, te rongoā wahine me te whakaputa uri, me ētahi atu mara.
-Hototahitanga:Pūnaha Tātari Whakarei Waikawa Karihi Aunoa Katoa HWTS AIO800 me ngā pūnaha PCR wā-tūturu tikanga.
Tāpiritanga:e pā anaNgā matees, Ngā Rongoā e Pā Ana, me ngā Whāinga Whakamātautau Ira e Hāngai Ana
Wā tuku: Mei-11-2026