Why genetic research must be more diverse | Keolu Fox

翻译人员: Tony Yet 校对人员: Gabriella Hu

As a little Hawaiian,

在我还是一个年幼的夏威夷人时

我的母亲和姑姑经常跟我讲关于卡劳帕帕的故事 --

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

the Hawaiian leper colony

那个地方充满夏威夷的麻风病患者，

surrounded by the highest sea cliffs in the world --

被世界上最高的悬崖包围。

and Father Damien,

还有为夏威夷社区奉献一生的比利时传教士

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

——达米安神父的故事。

我的姑姑，作为一名年轻的护士，

As a young nurse,

my aunt trained the nuns caring for the remaining lepers

在达米安神父死于麻风病近一百年后，

almost a 100 years after Father Damien died of leprosy.

训练修女们照顾剩下的麻风病患者。

I remember stories she told

我依旧记得她讲述的故事：

她和我的叔叔骑着骡子穿行在高低起伏的悬崖小路上。

about traveling down switchback cliff paths on a mule,

我的叔叔用尤克里里琴弹奏她最喜欢的夏威夷歌曲，

while my uncle played her favorite hula songs on the ukulele

all the way down to Kalaupapa.

直到到达卡劳帕帕。

You see, as a youngster,

作为一个儿童，

I was always curious about a few things.

我一直对一些事情感到好奇。

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

首先，为什么一个比利时传教士要选择

在卡劳帕帕住着与世隔绝的生活，

in Kalaupapa,

knowing he would inevitably contract leprosy

并且不可避免会从他帮助的社区里的人们那里

from the community of people he sought to help.

传染到麻风病。

And secondly,

还有，

where did the leprosy bacteria come from?

卡劳帕帕的麻风病菌是哪里来的？

为什么夏威夷的土著居民

And why were Kānaka Maoli,

the indigenous people of Hawaii,

如此容易受到麻风病的感染？

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

或者 “麻风病“ (夏威夷语)。

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

这让我好奇

是什么让我们夏威夷人不同？

namely, our genetic makeup.

答案就是我们的基因。

But it wasn't until high school,

但是直到高中，

through the Human Genome Project,

通过一个人类基因组的项目，

that I realized I wasn't alone

我才发现

我并不是唯一一个

in trying to connect our unique genetic ancestry

想要追溯我们特有的基因祖先，

to our potential health, wellness and illness.

为了了解我们的潜在健康和疾病。

You see,

要知道，

这个27亿美元的计划

the 2.7 billion-dollar project

promised an era of predictive and preventative medicine

在研究我们特有基因的基础上

保证了一个可预测，可预防的医疗时代。

based on our unique genetic makeup.

So to me it always seemed obvious

显而易见，

that in order to achieve this dream,

为了要完成这一个梦想，

我们需要排列一群不同的人

we would need to sequence a diverse cohort of people

来取得地球上变化多样的人类基因的遗传谱。

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

That's why 10 years later,

这就是为什么10年后，

it continues to shock me,

我不断被惊讶，

knowing that 96 percent of genome studies

发现96%与特定疾病有关的基因多样性的实验

associating common genetic variation with specific diseases

have focused exclusively on individuals of European ancestry.

都只研究了祖先是欧洲人的人群。

Now you don't need a PhD

你不需要一个博士学位都能发现

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

其他的种族只有4%。

在我自己的研究里，

And in my own searching,

我发现远不到1%的研究

I've discovered that far less than one percent

have actually focused on indigenous communities, like myself.

是专注于像我一样的土著居民。

So that begs the question:

所以我要问一个问题：

Who is the Human Genome Project actually for?

人类基因组计划究竟是为了谁？

Just like we have different colored eyes and hair,

就像我们有着不同颜色的眼睛和头发一样，

we metabolize drugs differently

根据我们的基因组

based on the variation in our genomes.

我们对药物的新陈代谢不同。

So how many of you would be shocked to learn

所以我不知道你们会多惊讶

95%的医疗临床试验

that 95 percent of clinical trials

have also exclusively featured individuals of European ancestry?

也是专门为欧洲血统的人。

This bias

这一不公平

and systematic lack of engagement of indigenous people

和缺少对土著居民的系统研究

in both clinical trials and genome studies

在医疗临床和基因研究领域

is partially the result of a history of distrust.

都是造成历史上种族不信任的部分原因。

For example,

举个例子，

1989年，亚利桑那州州立大学的研究者们

in 1989, researchers from Arizona State University

在亚利桑那州哈瓦苏部落

obtained blood samples from Arizona's Havasupai tribe,

采集了血样

promising to alleviate the burden of type 2 diabetes

保证减轻在社区横行的2型糖尿病。

that was plaguing their community,

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

但是却在没有哈瓦苏人的同意下，

用这些血样

without the Havasupai's consent --

to study rates of schizophrenia, inbreeding,

来学习精神分裂症和近亲繁殖的概率，

and challenge the Havasupai's origin story.

并且挑战哈瓦苏部落的起源。

When the Havasupai found out,

当哈瓦苏人发现的时候，

they sued successfully for $700,000,

他们成功起诉，获得了70万美元的罚款，

还禁止亚利桑那州立大学对其部落的研究。

and they banned ASU from conducting research on their reservation.

This culminated in a sort of domino effect

这件事在美国西南造成了多米诺效应，

with local tribes in the Southwest --

包括美国最大的部落：

including the Navajo Nation,

one of the largest tribes in the country --

纳瓦霍族。

putting a moratorium on genetic research.

他们叫停了一个基因的研究。

Now despite this history of distrust,

现在，不管那段充满着怀疑的历史，

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

我依旧相信，土著居民能够从基因研究中获利。

如果我们不尽快采取行动，

And if we don't do something soon,

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

医疗健康差距的鸿沟将越来越宽。

拿夏威夷举个例子，

Hawaii, for example,

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

在美国所有州中，夏威夷是最长寿的州。

yet native Hawaiians like myself

但是像我这样的夏威夷人

die a full decade before our non-native counterparts,

比非土著人早整整10年去世。

因为我们有2型糖尿病、肥胖症，

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

和美国头号和二号杀手疾病：

obesity,

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

心血管疾病和癌症的最高发病率。

cardiovascular disease and cancer.

So how do we ensure

所以，我们该如何保证

the populations of people that need genome sequencing the most

最需要基因组序列的人群

are not the last to benefit?

不是最后获益的。

My vision is to make genetic research more native,

我的愿望是想让基因研究更贴近当地，

to indigenize genome sequencing technology.

来本地化基因序列研究。

Traditionally, genomes are sequenced in laboratories.

一般来说，基因序列会在实验室被排序。

Here's an image of your classic genome sequencer.

这是一张有关基因序列测定仪的照片。

It's huge.

它十分巨大，

It's the size of a refrigerator.

有一个冰箱大小。

There's this obvious physical limitation.

很明显，它对空间有一定限制。

But what if you could sequence genomes on the fly?

但是，如果你能在飞机上使用基因序列测定仪，

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

如果你能用口袋装下一个基因序列测定仪，

This nanopore-based sequencer

这个纳米孔测序仪

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

只有传统基因序列测定仪的万分之一大小。

It doesn't have the same physical limitations,

它没有很多对空间的限制，

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

它不需要被绳子拴在实验室的长凳上，

large vats of chemicals or computer monitors.

它无需大量的化学物质和电脑显示器，

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

它能让我们以仿真和协作的方式

来排列基因。

in a way that's immersive and collaborative,

activating and empowering indigenous communities ...

让土著居民有动力和能力研究基因序列，

as citizen scientists.

让他们成为科学家。

100 years later in Kalaupapa,

100百年后的卡劳帕帕，

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

我们已经有能够实实在在研究麻风病病菌基因序列的科技，

using mobile genome sequencers,

能够使用可移动的基因序列测定仪。

remote access to the Internet

通过网络，远程存取

and cloud computation.

以及云计算。

But only if that's what Hawaiian people want.

只要那真的是夏威夷人所想要的。

在我们存在的宇宙里，

In our space,

在我们的人生里，

on our terms.

本土基因学是为了提高少数人的健康的科学。

IndiGenomics is about science for the people by the people.

We'll be starting with a tribal consultation resource,

我们会从举办一个部落咨询会开始，

注重教育土著社区

focused on educating indigenous communities

on the potential use and misuse of genetic information.

正当和不当使用基因信息的影响。

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

最终，我们想要成立我们自己的本土基因研究院

来进行我们自己的研究。

to conduct our own experiments

and educate the next generation of indigenous scientists.

同时，也要教导下一代土著科学家。

In the end,

最后，土著居民应该成为基因研究的成员， 而不是对象。

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

对于那些不是土著居民的人来说，

And for those on the outside,

应该学习神父达米安那样做，

just as Father Damien did,

the research community needs to immerse itself in indigenous culture

研究团体需要把自己浸泡在土著文化中，

不顾一切地去尝试。

or die trying.

Mahalo.

谢谢 ！(夏威夷语)

(Applause)

（掌声）