Humans are all almost exactly the same... almost - Greg Foot

譯者: Lilian Chiu 審譯者: Helen Chang

Medical science has a problem— it’s missing something.

醫學有個問題—— 它缺少了某樣東西。

Something that means that not only is it harder to find

這不僅意味著會更難 找到一些疾病的成因——

the causes of some diseases—

and effective ways to treat them—

以及治療它們的有效方式——

some diseases are getting overlooked entirely.

有些疾病還會被完全忽略。

It turns out what it’s missing could be you—

結果是，醫學缺少的可能就是你——

but I’ll get to that in a bit.

我等下會再談到這點。

Because first, a story.

因為要先來講個故事。

Or 8 billion stories, to be precise.

或者，更精確來說， 是八十億個故事。

See, our DNA is our body's instruction manual, sure.

要知道我們的 DNA 是我們 身體的說明書，沒錯，

But it’s also a history book that records our own, unique genetic story.

但它也是一本史書，記錄了 我們自己獨一無二的基因故事。

All our stories begin around 300,000 years ago

我們的故事都大約始於三十萬年前，

when humans arose in Africa.

人類在非洲出現。

Some genetic stories tell of leaving a couple of hundred thousand years later,

有一些基因故事會講到 在數十萬年後離開非洲，

journeying into Europe, East Asia, or the Americas.

來到了歐洲、東亞，或美洲。

Some genetic stories speak of expanding empires.

有些基因故事會說到擴展的帝國。

Others the diseases we evolved to ward off,

其他故事則說到我們 靠演化避開的疾病，

and some the simple act of settling down, raising cattle, and drinking their milk.

還有些故事單純是定居下來、 養牛，喝牠們的牛奶。

Each of our genetic stories are different,

我們每個人的基因故事都不同，

but maybe not as different as you might expect.

但可能沒有你預期的那麼不同。

We share 99.9% of our DNA with each other.

我們的 DNA 有 99.9% 都相同。

Our stories are 99.9% identical,

我們的故事有 99.9% 是一樣的，

but that 0.1% difference is incredibly powerful.

但那不同的 0.1% 非常強大。

In that tiny difference between our genetic stories

在我們基因故事的微小差異中，

is where we have the potential to develop better treatments for diseases—

我們有機會可以開發出 更佳的方法來治療疾病——

treatments that work for everyone.

對每人個都有效的治療方法。

But medical science isn’t currently reading all those stories.

但醫學目前並沒有 在讀所有這些故事。

To explain let me tell you how researchers work out the causes of diseases,

為了解釋，先讓我告訴各位 研究者如何找出疾病的成因，

and develop and test the effectiveness and safety of new treatments.

並開發及測試有效 且安全的新治療方法。

To find out the causes of a particular disease,

若要找出某種特定疾病的成因，

researchers find lots of people who have that condition

研究者會找來很多有該疾病的人，

and comb through their genetic stories.

仔細研究他們的基因故事。

They look for little variations they share—

研究者會尋找病人共有的變異——

little bits of their DNA stories that are spelt differently.

他們的 DNA 故事當中 拼寫方式不同的小地方。

If they find some, then they try all sorts of different ways

如果找到一些，他們就會 嘗試各種不同的方式

of dealing with the effect of them.

來處理它們的影響。

And if that uncovers something that looks promising,

如果發現了看來很有望的方法，

they then run a clinical trial to see if it actually is.

就會進行臨床試驗， 看看是否真的有用 。

In phase one, a small group of volunteers try the treatment.

在第一階段，一小群自願者 會嘗試使用該治療方法。

Well, often only half of them do,

通常，只有一半的人會使用，

with the other half getting a placebo that does absolutely nothing.

另一半的人是用 完全沒效果的安慰劑。

If there aren’t any notable side effects at the target dose,

如果目標劑量沒有造成 任何明顯的副作用，

the treatment is cleared to move on to the next stage of the clinical trial.

該治療方法就可以進入到 臨床試驗的下一個階段。

Phase two, this time with a bigger group of participants

第二階段，這次的受試者更多，

who all have the condition the researchers hope the drug will treat.

他們都患有研究者希望 該藥物能夠治療的疾病。

If the drug appears effective, it moves on to phase three,

如果藥物顯然有效，

就可以進入第三階段，

with more participants trying it for even longer.

更多受試者，做更長時間的嘗試。

Only after all this is the new treatment then reviewed

經過所有這些過程後， 這種新治療方法才會被審視，

and— hopefully— approved for use by us, the general population.

以及——但願啦——

被核准給我們一般大眾使用。

But there's a problem with it.

但，這有一個問題。

Here is the ethnicity of lots and lots of people used to recently find

這是近期各種疾病用來找出成因

the causes of various diseases.

使用的受試者的人種分佈。

And here is how that compares to the ethnic diversity

這是將它拿來和世界人口的 人種多樣性做比較。

of the world’s population.

Spot the difference?

看出差別了嗎？

The genetic stories that researchers are combing through are heavily biased

研究者所探究的基因故事 有很嚴重的偏誤，

to those of people from European descent.

著重在歐洲後裔。

Which means that if you’re searching

這就表示，如果你在尋找

for those disease-causing bits of DNA to target new drugs against,

DNA 中造成疾病的微小部分， 希望新藥物能處理它們，

and you're mainly reading the stories of people of European descent,

而你讀的故事 主要是歐洲後裔的故事，

you might completely overlook key bits in the stories

你可能會完全忽略掉其他 多樣性族群故事中的關鍵點，

of other diverse groups that tell of, say,

比如疾病的風險改變，

a changed risk of disease or even shed light on how a disease occurs—

或甚至關於疾病如何發生的解釋——

for example, scientists may not have found the mutation

比如，科學家本來可能不會發現 造成鐮刀型紅血球疾病的突變，

that causes sickle cell disorder

if we’d only looked in the stories of people of European descent.

如果他們只去探究歐洲人 後裔的故事就不會發現。

And the thing is, what medical science is missing doesn't end there.

事實是，醫學缺少的還不只如此。

When new treatments or medical devices are being tested,

在測試新治療方法或醫療器材時，

they need to be tested on everyone that may use them.

需要針對可能會使用 它們的所有人來做測試。

If the genetic stories involved don’t reflect the breadth of stories

如果相關的基因故事並沒有反映出

世界圖書館中故事的廣泛程度，

in our worldwide library then, again, something might be missed.

那麼，同樣的， 可能也會錯失掉什麼。

Take, for example, the medicine Warfarin; used to prevent blood clots.

以抗凝血劑華法林為例： 它的用途是預防血栓。

Researchers have found that, to produce the same effect,

研究者發現，要產生出同樣的效果，

most people of East Asian descent need a lower dose

大部分東亞後裔需要的劑量 低於一些歐洲後裔，

than some people of European descent,

and most people of African ethnicity need a larger dose.

而大部分非洲人種 則需要更大的劑量。

Which means the dose that works best for someone

這就表示，多少劑量最理想

may vary according to their ethnicity.

可能會因人種而異。

It’s this kind of important information that can be missed if clinical trials

這種重要資訊有可能會被忽略，

如果臨床試驗沒有 納入多樣性的人種。

don’t include people from across a range of ethnicities.

So what’s the solution?

那該如何解決？

Well, it’s quite simple... in theory.

理論上相當簡單。

In order to develop treatments that work better for everyone,

為了要開發出對每個人 都更有效的治療方法，

we need to involve everyone’s stories in medical research—

我們需要把每個人的故事 都納入到醫學研究中——

in the early stage research, in the drug development process,

研究的早期要納入， 藥物開發過程要納入，

and right through the clinical trial.

一直到臨床試驗都要納入。

The good news is that more and more people are thinking about this.

好消息是，有越來越多人 在考量這一點。

For example, cancer researchers at University College London

比如，倫敦大學學院的癌症研究者

researching genetic markers for cancer want to analyze tissue samples

在研究癌症的基因標記，

他們想要分析各種 不同人種的組織樣本，

from a wide range of ethnicities so that the biomarkers of cancer they identify

這麼一來，他們辨識出的生物標記

will be relevant for people from as many ethnicities as possible.

會盡可能和許多人種都有關。

Bottom line: medical science needs to ensure

結論：醫學需要確保其擁有 最好的圖書館——

it’s got the best library it can have—

the one with the widest collection of genetic stories possible,

館藏中要盡可能有 最廣泛的基因故事，

so that everyone’s story can be considered—

讓每個人的故事都能 被考量到——包括你的。

including yours.

That is the only way to ensure everyone, everywhere

唯有這個方法，才能確保 任何地方的任何人

can get the best medical treatment they possibly can.

都能得到最好的醫學治療。