He Tukunga Whakaputa i te Raraunga Iranga Whai Kounga mō ngā Taupori Kāore Anō kia Kitea te Tokomaha
I te tau 2019, ka whakarewa a Variant Bio, he pakihi iranga nō Seattle (USA), rātou ko Ahorangi Tony Merriman nō Te Whare Wānanga o Otākou, Aotearoa, i tētahi pātuitanga, ko te kaupapa ko te rangahau i ngā take ā-ira o ngā mate tākihi me ētahi mate whakarau pūngao pērā, arā, ko te porohau tētahi, ko te mate huka tētahi anō, kei ngā iwi Māori me ngā iwi o Te Moana-nui-a-Kiwa e noho ana ki Aotearoa (tirohia tēnei kia mōhio tonu mō tēnei kaupapa). Ko tēnei te takahanga tuatahi noa i te huarahi roa, ki te whakamana i te tātaritanga me te hauora whakahāngai mō te iwi Māori me ngā iwi o Te Moana-nui-a-Kiwa.
Kia whai mārama ki ngā take ā-ira o ngā momo mate i tētahi taupori, i te tuatahi, mā ngā kairangahau e waihanga te raraunga huinga ira mai i taua taupori. Ahakoa te tino heke o te utu mō te raupapanga o tētahi huinga ira katoa i ngā tau tekau ki mua nei, kei te rohe o te $700 USD (~$1,000NZD) mō te tangata kotahi ināianei, ka nui tonu te utu mā te tokomaha.
Ki te eke panuku i tēnei taupā ki ngā rangahau huinga ira, kua whakawhanake ngā kairangahau o Variant Bio rātou ko Te Whare Wānanga o Otākou i tētahi rautaki whakaheke i te utu ki te whakaputa i te raraunga huinga ira kounga mō ngā taupori kāore anō kia kitea te tokomaha. Nā te mea, ko ngā tāngata kāore i heke i Ūropi, hāunga ko ngā kāwai heke o te iwi Māori me Te Moana-nui-a-Kiwa, kāore anō kia kitea te tokomaha kei roto i ngā kohinga raraunga o nāianei,¹ kāore e taea e ngā kairangahau i tēnei rangahau te whakamahi i ngā huinga raraunga tūturu o wāhi kē. Ka whakamahia kētia e mātou ngā tīpakotanga DNA takitahi mai i ngā tāngata Māori, ngā tāngata o Te Moana-nui-a-Kiwa hoki i whakaae ai ki te uru ki te rangahau, i tētahi tukanga e kīia nei e mātou ko te raupapanga huinga ira katoa “ā-waenga” (“mid-pass) me te “whakakī āputa” (“imputation”). Ka ngāwari ake te utu mō tēnei tukanga (~$150 USD/~$210 NZD mō ia tangata), ā, he kaha ake te kitenga, tae ana ki te tautohu i ngā taurangi ira e hāngai ana ki tētahi taupori motuhake.
Nā, he aha te painga o tēnei raupapanga o tētahi huinga ira katoa me te “whakakī āputa”? Tuatahi, nā te kaha o tēnei tukanga ki te whakaheke i te utu ina ka whakatairitehia ki te raupapanga ā-runga (high-pass), ka taea te whakapiki i te tokomaha o ngā tāngata ka uru ki te rangahau. Ka āwhina hoki ki te tautohu i te taurangi ira kei ngā taupori Māori, me ngā taupori o Te Moana-nui-a-Kiwa, he mea waiwai mō te whai māramatanga ki te pānga o te ira ki ngā mate pērā ki te porohau me te mate tākihi, e kore e taea ina ka whakamahia ngā tukanga ngāwari te utu o mua (pērā ki te “tūtohi tauira iranga/genotyping arrays”). Hei whakamutunga, mā tēnei mahi e whakapara ai mātou te huarahi mā kairangahau kē, ki te tāruarua i tēnei tukanga, hei kimi māramatanga mō ngā pānga o te mate ki ngā taupori kāore anō kia kitea te tokomaha, me ngā ara maimoatanga hei āwhina.
He aha te raupapanga o te huinga ira katoa, ā, he aha te raupapanga ā-waenga, me te rerekētanga ki ngā raupapanga ā-runga, ā-raro rānei?
Ko te raupapanga ira katoa, ko te whakamahi i te hangarau raupapa DNA, ki te pānui i te iranga o tētahi tangata. Kia whakawhirinaki ai te pānui, ka pānuitia anōtia ia pūwāhi o te iranga o te tangata ētahi wā anō. Ko te taumata tiketike mō tēnei, kia 30 te toharite o ngā “pānui” mō ia pūwāhi. Ka kīia tēnei ko te raupapanga “ā-runga” (high-pass), te 30x rānei. Ko te raupapanga ā-waenga ko te kupu ka whakamahia e mātou mō te raupapanga ka whakamahia kei te rohe o 1–8x, ka pānuitia ai ia pūwāhi kia 1 ki te 8 ngā wā pea. Ko te raupapanga ā-raro (low-pass), te ingoa ka whakamahia mō ngā raupapanga ka pānui i ia pūwāhi kia ≤1 ngā wā pea. I te raupapanga ā-waenga ka eke te maha o te raraunga kia whakawhirinaki ai mātou i ngā iranga o te tangata kotahi, mā te titiro ki ngā tāngata katoa kua raupapangia i te rōpū, engari kāore i te pērā ki te whakawhirinakitanga o te raupapanga 30x, inarā mō ngā taurangi ira kāore i te kitea whānuitia i te taupori. Koia te take ka tāpiri ai mātou i te whakakī āputa ki te raupapanga ā-waenga, ki te whakauru, ki te whakatautata rānei mō ērā huinga ira kāore anō kia kaha te whakawhirinakitanga. I ērā whakakī āputa, ka whakamahia te raupapanga ā-runga mō tētahi huinga tokoiti o ngā tāngata o taua taupori anō.
Kei a wai te mana whakahaere mō ngā raraunga me ngā kitenga o tēnei rangahau?
Kua whakaputaina inātata nei ngā taipitopito o te tukanga me tō mātou aronga mō te rangahau nei i te hautaka tuwhera nei ko te BMC Genomics, kia āhei a kairangahau kē te ako, ā, ko te tumanako, te whakawhanake hoki haere ake nei.² He hiranga kia mārama ai, ko ngā raraunga iranga mō ngā tāngata Māori, me ngā tāngata o te Moana-nui-a-Kiwa o tēnei kaupapa kua whakaruruhautia i raro i te kaitiakitanga o Ahorangi Tony Merriman, ā, kāore e taea te tuku ki te marea, nā te mea, kāore ngā tāngata i uru ki te rangahau i tuku i ō rātou whakaaetanga mō tērā. Ko tētahi mea hira pea, ka taea e ngā tāngata te puta atu i te rangahau ahakoa te wā.
Ka pūmau te aronga o ngā kairangahau o Variant Bio me Te Whare Wānanga o Otāgo, ki te hoahoa i ngā rangahau ka eke ki te taumata matatika tiketike. Ki te whakaū ki te tika o ngā tikanga kua whakaritea mō tēnei kaupapa, kua mahi tahi Variant Bio me tōna Ethics Advisory Board, ā, kua whakawhitiwhiti mai ki Aotearoa ki te ako mō ngā āwangawanga e pā ana ki te kohinga me te whakamahinga o te raraunga iranga i ngā hui me ngā whakawhitiwhitinga kōrero ki te taha o ngā kaiārahi whakaaro taketake. Kua whakaaetia hoki te kaupapa e ngā tari IRB whai pānga katoa kei Aotearoa, i runga i ngā herenga tūturu mō ngā rangahau pēnei.
He mea whakaihiihi ki a mātou te whakaū kia tukuna whānuitia te tukanga ā-waenga ki ngā kairangahau e mahi ana ki te taha o ngā taupori kāore anō kia kitea te tokomaha, ā, kia mōhio hoki ai rātou me pēhea te whakahaere. Nā tō mātou hiahia kia āhei a tangata kē ki te whakamahi i ērā tukanga, kua kore ngā tukanga ā-waenga i waihangatia e mātou e uhia ki ngā herenga o te IP (mana whakairo hinengaro), ā, e kore rawa e uhia hoki. Ki te whakawhānui i te whakamahinga o ēnei tukanga, kua tukuna e mātou ngā hōtuhi kia tūmatanui mā ngā kairangahau katoa.
He aha ngā tūraru o tēnei rangahau?
Ko te tūraru nui mō ngā rangahau iranga pēnei katoa, ko te whakamōrea i te haumarutanga raraunga. Heoi anō, kua āta whakaū mātou kia kore ai e whakamōreareatia. Ko te mea nui, kāore a Variant Bio e whiwhi, e rokiroki rānei i ngā mōhiohio whaiaro e taea ai te tautohu ko wai ngā tāngata i uru ki te rangahau, kia pūmau ai tō rātou tūmataititanga. Waihoki, ā muri i te tukatuka i ngā raraunga, e kore aua raraunga iranga e tuaritia ki rōpū kē, ā, ka herea te whakapā atu ki aua raraunga ki ngā tāngata anake o Variant Bio me Te Whare Wānanga o Otākou kua whakamanahia.
He aha ngā painga?
Ko te tuku i tētahi tukanga hei whakaputa i te raraunga e taea ai te whakamahi mō te hauora whakahāngai, ko tētahi o ngā painga o tēnei mahi, engari he mea hiranga anō kia maumahara he wāhanga pangahono paku noa tēnei o te tukunga rongoā whaiaro mō ngā taupori kāore anō kia kitea te tokomaha. Mō te hauora whakahāngai, he mea waiwai te arotake i te tūponotanga motuhake kia pāngia e taua mate, ngā āhuatanga whanake o te mate, me te urupare ki te haumanu. Ko te mātai huinga ira tētahi wāhanga nui o tērā, nā te mea, tērā pea he momo ira ka whakapiki i te pānga o te mate, ka tino rerekē te tūponotanga i waenga i ngā mātāwaka, ā, mō ētahi o aua momo ira, ka kitea kei ētahi mātāwaka anake. Ki te kore e pai te raraunga, e hāngai ana ki ngā hapori Māori, me ngā hapori o Te Moana-nui-a-Kiwa, ka mahue te hauora whakahāngai ki muri mō aua iwi.
Mō nāianei, hei wāhanga o tēnei rangahau, ka pūmau mātou ki te whakapiki i ngā painga mō ngā hapori o te iwi Māori me ngā iwi o Te Moana-nui-a-Kiwa kua uru ki tā mātou rangahau, mā te maha o ngā kaupapa whānui. Kua taunaha a Variant Bio i te pūtea tae atu ki te $100,000 USD/$140,000 NZD te tapeke, hei whakawhanake i ngā kaupapa o te rangahau, te tiaki hauora, te mātauranga me te taiao hei āwhina i ngā hapori Māori me ngā hapori o Te Moana-nui-a-Kiwa kei Aotearoa. Hei tauira, i tautoko a Variant i te pūtea mō te hui SING 2020, te hui taumata tuatahi e pā ana ki te Huinga Ira mō ngā Iwi Taketake, e aro ana ki te whakawhanake i ngā pātuitanga me ngā iwi taketake i te mātai huinga ira.
Mō te pae tawhiti, ā te wā ka tīmata a Variant Bio ki te whakawhiwhi pūtea (i tēnei wā he pakihi hou kei te tinakutanga o te kākano tonu), kua ū te kamupene ki te tuari i te 4% o ngā whiwhinga haere ake nei (arā, ko te whiwhinga pūtea tēnei, ehara ko te huamoni e kōrero ana mō te whiwhinga ā muri i te utu i ngā nama) ia tau ki ōna hapori pātuitanga (tae atu ki ngā hapori Māori me ngā hapori o Te Moana-nui-a-Kiwa e noho nei ki Aotearoa) tae atu ki te wā ka hokona atu te kamupene, ka tukuna rānei hei kamupene tūmatanui (IPO), ā taua wā ka whiwhi ngā hapori pātuitanga i te 4% o te uara tūtanga o te kamupene (ki te rapu mōhiohio tonu mō te kaupapa tuari-painga a Variant Bio, tirohia tēnei).
- https://www.nature.com/articles/d41586-019-01166-x
- Emde, AK., Phipps-Green, A., Cadzow, M. et al. Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations. BMC Genomics 22, 666 (2021).
