Why genetic research must be more diverse | Keolu Fox

譯者: 易帆 余 審譯者: Amy H. Fann

As a little Hawaiian,

在我還是个年幼的夏威夷人時，

my mom and auntie always told me stories about Kalaupapa --

我媽跟姑姑常跟我提到有關 卡勞帕帕的故事——

the Hawaiian leper colony

一個被世界上最高的面海懸崖包圍著的 夏威夷痲瘋病部落——

surrounded by the highest sea cliffs in the world --

and Father Damien,

還有一位奉獻了他的一生給 夏威夷社區的比利時傳教士——達米安神父。

the Belgian missionary who gave his life for the Hawaiian community.

As a young nurse,

身為一位年輕護士的姑姑，

my aunt trained the nuns caring for the remaining lepers

在達米安神父因麻風病身故後，

almost a 100 years after Father Damien died of leprosy.

她訓練了修女和照顧剩下的 痲瘋病患者將近一百年。

I remember stories she told

我依稀記得她跟我過說的故事：

about traveling down switchback cliff paths on a mule,

她和姑丈騎著騾子穿行在 高低起伏的懸崖小路上，

while my uncle played her favorite hula songs on the ukulele

姑丈用烏克麗麗彈奏著 她最喜歡的夏威夷歌曲，

all the way down to Kalaupapa.

一路回到達卡勞帕帕。

You see, as a youngster,

當時還是小朋友的我，

I was always curious about a few things.

我總是對一些事情感到好奇。

First was why a Belgian missionary chose to live in complete isolation

第一，為什麼一位比利時傳教士

要選擇在一個與世隔絕 的卡勞帕帕生活，

in Kalaupapa,

knowing he would inevitably contract leprosy

而且還有可能會從 他幫助的社區居民那邊

from the community of people he sought to help.

感染到痲瘋病。

And secondly,

第二，

where did the leprosy bacteria come from?

這些痲瘋病細菌是從哪裡來的？

And why were Kānaka Maoli,

為什麼夏威夷的土著居民，

the indigenous people of Hawaii,

so susceptible to developing leprosy, or "mai Pake?"

這麼這麼容易感染到痲瘋病？

This got my curious about what makes us unique as Hawaiians --

這讓我感到很好奇， 為什麼只有夏威夷人？

namely, our genetic makeup.

結果答案是：我們基因。

But it wasn't until high school,

但直到高中，

through the Human Genome Project,

在一次的人類基因專案中，

that I realized I wasn't alone

我才明白，我並不是唯一一個

in trying to connect our unique genetic ancestry

想要試從基因祖譜中

to our potential health, wellness and illness.

了解我們潛在的 健康及疾病問題的人。

You see,

要知道，

the 2.7 billion-dollar project

這 27 億美金的研究計畫，

promised an era of predictive and preventative medicine

建立在我們特有的基因基礎上，

保证了一個可預測、可預防的 醫療時代。

based on our unique genetic makeup.

So to me it always seemed obvious

顯而易見

that in order to achieve this dream,

為了要完成這個夢想，

we would need to sequence a diverse cohort of people

我們需要一大群多樣化的人種

to obtain the full spectrum of human genetic variation on the planet.

來取得地球上各樣人種的 完整基因圖譜。

That's why 10 years later,

這也是為什麼十年後，

it continues to shock me,

這件事不斷地衝擊著我，

knowing that 96 percent of genome studies

因為我發現到，

96% 與特定疾病有關的基因研究

associating common genetic variation with specific diseases

have focused exclusively on individuals of European ancestry.

只著重在祖先是歐洲人的人群。

Now you don't need a PhD

各位不需要博士學位都能理解，

to see that that leaves four percent for the rest of diversity.

有 4% 的人被遺棄了。

And in my own searching,

而且在我的研究中，

I've discovered that far less than one percent

我發現，

著重在像我這樣的原住民 的相關研究根本不到 1% 。

have actually focused on indigenous communities, like myself.

So that begs the question:

這衍伸出一個問題：

Who is the Human Genome Project actually for?

人類基因組計畫究竟是為誰而做的？

Just like we have different colored eyes and hair,

像我們，有不同的眼睛顏色與髮色，

we metabolize drugs differently

我們對藥物的新陳代謝不同，

based on the variation in our genomes.

因為我們有不同的基因組。

So how many of you would be shocked to learn

所以我不知道各位會不會感到驚訝，

that 95 percent of clinical trials

目前 95% 的臨床實驗，

have also exclusively featured individuals of European ancestry?

是專門為歐洲祖先的後代做的。

This bias

這種系統性

and systematic lack of engagement of indigenous people

對原住民缺乏合約精神的偏見，

in both clinical trials and genome studies

不僅在臨床實驗上， 還有基因研究上都是。

is partially the result of a history of distrust.

就是這些因素造成歷史上 種族不信任的部分原因。

For example,

舉個例子，

in 1989, researchers from Arizona State University

1989年，亞利桑那州州立大學 的研究人員

obtained blood samples from Arizona's Havasupai tribe,

在亞利桑那州哈瓦蘇部落 採集了血液的樣本，

promising to alleviate the burden of type 2 diabetes

承諾要降低社區的

2 型糖尿病的病情，

that was plaguing their community,

only to turn around and use those exact same samples --

但是卻在沒有經過哈瓦蘇人的同意下，

without the Havasupai's consent --

拿了這些樣本

to study rates of schizophrenia, inbreeding,

去做精神分裂症、 近親繁殖的研究，

and challenge the Havasupai's origin story.

並挑戰哈瓦蘇部落的歷史起源。

When the Havasupai found out,

當哈瓦蘇人發現的時候，

they sued successfully for $700,000,

他們告上法院， 獲得 70 萬美金的賠償，

and they banned ASU from conducting research on their reservation.

並禁止亞利桑那州立大學 繼續從事接下來的研究。

This culminated in a sort of domino effect

這件事在美國西南部 造成了骨牌效應，

with local tribes in the Southwest --

包括美國的最大部落，納瓦霍族，

including the Navajo Nation,

one of the largest tribes in the country --

putting a moratorium on genetic research.

也叫停了一個基因的研究。

Now despite this history of distrust,

排除歷史上的不信任事件，

I still believe that indigenous people can benefit from genetic research.

我還是相信原住民可以在 基因研究上獲得好處。

And if we don't do something soon,

如果我們不盡快採取行動，

the gap in health disparities is going to continue to widen.

醫療保健差距的鴻溝將會越來越大。

Hawaii, for example,

以夏威夷為例子，

has the longest life expectancy on average of any state in the US,

在美國所有的州當中， 他們的平均壽命是最長的，

yet native Hawaiians like myself

但像我這樣的夏威夷人，

die a full decade before our non-native counterparts,

卻比非原住民的人要早 10 年去世，

because we have some of the highest rates of type 2 diabetes,

因為我們有 2 型糖尿病、

obesity,

肥胖症，

and the number one and number two killers in the US:

和美國頭號和二號殺手疾病：

cardiovascular disease and cancer.

心血管疾病及癌症。

So how do we ensure

所以，我們要如何確保，

the populations of people that need genome sequencing the most

最需要基因定序的族群，

are not the last to benefit?

不會是最後才能受益？

My vision is to make genetic research more native,

我的願景是要讓基因研究更貼近當地、

to indigenize genome sequencing technology.

讓基因定序的科技更當地化。

Traditionally, genomes are sequenced in laboratories.

傳統上，基因定序都是在實驗室中進行。

Here's an image of your classic genome sequencer.

這裡有一張傳統基因定序儀器的照片。

It's huge.

它很大。

It's the size of a refrigerator.

差不多有一台冰箱的大小。

There's this obvious physical limitation.

所以它有空間上的限制。

But what if you could sequence genomes on the fly?

但如果你随时随地都可以 使用基因定序的儀器呢？

What if you could fit a genome sequencer in your pocket?

要是你可以把基因定序儀器 放進口袋呢？

This nanopore-based sequencer

這台奈米孔徑的定序儀，

is one 10,000th the size of your traditional genome sequencer.

它只有傳統儀器的萬分之一倍。

It doesn't have the same physical limitations,

它沒有空間上限制的問題，

in that it's not tethered to a lab bench with extraneous cords,

它不需要用鐵鍊把它栓在 實驗室的板凳上，

large vats of chemicals or computer monitors.

也不用大量的化學物質和電腦螢幕。

It allows us to de-black box genome sequencing technology development

它打破了基因定序科技發展的黑盒子，

in a way that's immersive and collaborative,

運用著身臨其境般的協作方式，

activating and empowering indigenous communities ...

啟動並激勵原住民社群，

as citizen scientists.

成為市民科學家。

100 years later in Kalaupapa,

一百年後的卡勞帕帕，

we now have the technology to sequence leprosy bacteria in real time,

我們现在有即時性 獲取痲瘋病細菌定序的科技。

using mobile genome sequencers,

這主要利用行動基因定序儀,

remote access to the Internet

透過網路，遠端存取

and cloud computation.

及雲端計算——

But only if that's what Hawaiian people want.

只要夏威夷人想要——

在我們的土地，

In our space,

on our terms.

在我們的語言裡。

IndiGenomics is about science for the people by the people.

本土基因學是為人而做， 由人而做的。

We'll be starting with a tribal consultation resource,

我們會從部落諮詢 資源開始做起，

focused on educating indigenous communities

著重在原住民社區的教育上，

on the potential use and misuse of genetic information.

特別是正當和不當使用 基因資訊的影響。

Eventually we'd like to have our own IndiGenomics research institute

最後，我們會有我們自己的 在地研究機構

to conduct our own experiments

進行我們自己的實驗，

and educate the next generation of indigenous scientists.

同時教育出下一代的原住民科學家。

In the end,

最後，

indigenous people need to be partners in and not subjects of genetic research.

原住民應該要參與其中， 而不是只有把自己當作研究對象，

And for those on the outside,

而對那些不是原住民的朋友來說，

just as Father Damien did,

應該學習達米安神父的精神

the research community needs to immerse itself in indigenous culture

研究團體需要把自己 溶入到原住民文化中，

or die trying.

或者終生奉獻。

Mahalo.

謝謝 （夏威夷語）

(Applause)

（掌聲）