TEDxBoston 2011
Richard Resnick: Welcome to the genomic revolution
Richard Resnick:歡迎來到基因革命
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在這個簡單易懂地演講中（TEDxBoston），Richard Resnick展示了低成本和快速的基因組測序將如何地顛覆現有的醫療保健（以及保險和政治）。
Richard Resnick - Entrepreneur
Richard Resnick is on the front lines of the business of genomes, as CEO of GenomeQuest, a maker of genomic software. Full bio
Richard Resnick is on the front lines of the business of genomes, as CEO of GenomeQuest, a maker of genomic software. Full bio
Double-click the English transcript below to play the video.
00:15
Ladies and gentlemen,
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女士們先生們，
00:17
I present to you the human genome.
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我為大家展示一下人類基因組。
00:20
(Applause)
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（掌聲）
00:23
Chromosome one, top left.
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染色體一，左上角
00:25
Bottom right are the sex chromosomes.
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性染色體在右下角。
00:27
Women have two copies of that big X chromosome;
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女生有兩份大的X染色體；
00:29
men have the X
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男生有一份X染色體
00:31
and, of course, that small copy of the Y.
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還有一份小的Y染色體。
00:33
Sorry boys, but it's just a tiny little thing that makes you different.
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很抱歉各位男士，讓你們有所不同的只是那一個小東西。
00:37
So if you zoom in on this genome,
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如果我們放大這個基因組的圖片，
00:40
then what you see, of course, is this double helix structure --
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會看到雙螺旋結構
00:43
the code of life spelled out with these four biochemical letters,
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生命的編碼是由四個生化字符編寫出來，
00:45
or we call them bases, right:
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我們稱之為基對：
00:47
A, C, G and T.
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A,C,G和T。
00:49
How many are there in the human genome? Three billion.
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人類基因組有多少基對呢？ 30億。
00:51
Is that a big number?
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這是一個很大的數字嗎？
00:53
Well, everybody can throw around big numbers.
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每個人都可以隨便講一些很大的數字出來。
00:55
But in fact, if I were to place one base
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如果我把這1280像素高800像素寬的螢幕上
00:57
on each pixel of this 1280 by 800 resolution screen,
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每一個像素都用一個基對替換
01:00
we would need 3,000 screens to take a look at the genome.
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我們需要3000塊這麼大的螢幕來觀察這基因組
01:03
So it's really quite big.
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所以這個數字真的是很大。
01:05
And perhaps because of its size,
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或許是因為這麼大
01:07
a group of people -- all, by the way, with Y chromosomes --
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有一群人有Y染色體的人
01:10
decided they would want to sequence it.
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決定想要把為它排序
01:12
(Laughter)
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(笑聲)
01:14
And so 15 years, actually, and about four billion dollars later,
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15年前開始，花費了40億美金後
01:17
the genome was sequenced and published.
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對基因組的排序終於完成並發表。
01:19
In 2003, the final version was published, and they keep working on it.
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2003年，最終的版本發表，人們繼續對它的研究。
01:22
That was all done on a machine that looks like this.
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這一切都是在這樣的一台儀器上完成的。
01:24
It costs about a dollar for each base --
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每排序一個基對花費一美元左右
01:26
a very slow way of doing it.
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而且也是非常慢的一種做法。
01:28
Well folks, I'm here to tell you
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但是我要告訴大家
01:30
that the world has completely changed
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這世界已經發生了天翻地覆的變化
01:32
and none of you know about it.
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然而你們卻都渾然不覺。
01:34
So now what we do is we take a genome,
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現在我們把一個基因組
01:36
we make maybe 50 copies of it,
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複製50份
01:38
we cut all those copies up into little 50-base reads,
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然後把他們切割為50基對
01:41
and then we sequence them, massively parallel.
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接著我們就對他們進行大量並行地排序。
01:43
And then we bring that into software,
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然後將結果輸入到軟體中
01:45
and we reassemble it and we tell you what the story is.
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加以組合然後我們可以得出結論。
01:47
And so just to give you a picture of what this looks like,
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給大家看一張圖片來瞭解
01:50
the Human Genome Project: 3 gigabases, right.
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人類基因組計畫：30億基對
01:52
One run on one of these machines:
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在這些儀器上進行排序
01:54
200 gigabases in a week.
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每週可以完成2000億基對。
01:57
And that 200 is going to change to 600 this summer,
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而且這個夏天它的速度會變成6000億基對
02:00
and there's no sign of this pace slowing.
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這速度上的進展絲毫沒有減慢的跡象。
02:03
So the price of a base, to sequence a base,
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對一個基對排序的價格
02:06
has fallen 100 million times.
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已經下跌了一億倍。
02:09
That's the equivalent of you filling up your car with gas in 1998,
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這就相當於你在1998年給汽車加滿一次油的錢
02:12
waiting until 2011,
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放到2011年
02:14
and now you can drive to Jupiter and back twice.
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可以讓你在地球和木星之間來回開2次。
02:16
(Laughter)
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｛笑聲｝
02:21
World population,
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世界人口，
02:23
PC placements,
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電腦普及，
02:25
the archive of all the medical literature,
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所以醫療文獻的存檔，
02:28
Moore's law,
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摩爾定律，
02:30
the old way of sequencing, and here's all the new stuff.
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早期的排序方法，這是新的技術。
02:33
Guys, this is a log scale;
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這是一個按指數擴大的情況；
02:35
you don't typically see lines that go up like that.
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你通常是不會看到這樣的走勢的。
02:38
So the worldwide capacity to sequence human genomes
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全世界用於人類基因組測序的能力
02:41
is something like 50,000 to 100,000 human genomes this year.
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可以在今年做到5萬到10萬個人類基因組。
02:44
And we know this based on the machines that are being placed.
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我們是從已經投入應用的儀器來判斷這個數字。
02:47
This is expected to double, triple or maybe quadruple
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在可預見的未來裏每年這個數字都會翻倍，
02:50
year over year for the foreseeable future.
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或是以三倍甚至四倍的速度增長。
02:52
In fact, there's one lab in particular
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有一個實驗室
02:54
that represents 20 percent of all that capacity.
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佔據了全世界測序能力的20％。
02:57
It's called the Beijing Genomics Institute.
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它叫做“華大基因”。
03:00
The Chinese are absolutely winning this race to the new Moon, by the way.
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中國在這場新的“登月競賽”中處於領先。
03:04
What does this mean for medicine?
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對於醫學這意味著甚麼呢？
03:06
So a woman is age 37.
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有一個37歲的女性。
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She presents with stage 2 estrogen receptor-positive breast cancer.
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她出現了階段2的雌激素受阻體陽性乳腺癌。
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She is treated with surgery, chemotherapy and radiation.
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經歷了手術，化療和放射性治療
03:15
She goes home.
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回到了家裡。
03:17
Two years later, she comes back with stage three C ovarian cancer.
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兩年以後她又發現了三C期的卵巢癌。
03:20
Unfortunately, treated again with surgery and chemotherapy.
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她又接受了手術和化療，不幸的是
03:23
She comes back three years later at age 42
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三年後她42歲，又發現了更多的卵巢癌
03:25
with more ovarian cancer, more chemotherapy.
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回到醫院，再接受更多的化療。
03:28
Six months later,
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6個月後，
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she comes back with acute myeloid leukemia.
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她又患上了急性骨髓性白血病
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She goes into respiratory failure and dies eight days later.
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最終因呼吸道衰竭在8天以後逝世。
03:37
So first, the way in which this woman was treated, in as little as 10 years,
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在短短的10年中，這名婦女接受的治療
03:40
will look like bloodletting.
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將會看起來如同放血一般。
03:43
And it's because of people like my colleague, Rick Wilson,
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因為我在華盛頓大學
03:45
at the Genome Institute at Washington University,
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基因研究院的同事Rick Wilson
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who decided to take a look at this woman postmortem.
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決定要研究一下這名婦女的遺體進行檢驗
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And he sequenced, he took skin cells, healthy skin,
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他提取了她正常皮膚細胞和發生癌變的
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and cancerous bone marrow,
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骨髓細胞並進行測序
03:55
and he sequenced the whole genomes of both of them
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在幾周的時間里，他對兩個基因組
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in a couple of weeks, no big deal.
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進行了徹底的排序。
04:00
And then he compared those two genomes in software,
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然後在軟體中比對這兩組基因
04:02
and what he found, among other things,
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他在30億基對中的
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was a deletion, a 2,000-base deletion
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一個叫做TP53的基因上
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across three billion bases
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發現了一段
04:08
in a particular gene called TP53.
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2000基對的基因缺損。
04:10
If you have this deleterious mutation in this gene,
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如果你在這個基因上有此類缺損的異變，
04:13
you're 90 percent likely to get cancer in your life.
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你一生中有90%的可能性會患上癌症。
04:16
So unfortunately, this doesn't help this woman,
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不幸的是這個發現對這婦女沒有任何幫助，
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but it does have severe, profound if you will,
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但是這對她的家人，
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implications to her family.
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有非常重要的影響。
04:23
I mean, if they have the same mutation,
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如果他們有相同的異變，
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and they get this genetic test, and they understand it,
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接受這基因檢測，並對它有所瞭解，
04:28
then they can go and get regular screens, and they can catch cancer early
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他們可以定時地做篩檢，及早發現癌症
04:31
and potentially live a significantly longer life.
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藉此可能大大延長壽命。
04:33
Let me introduce you now to the Beery twins,
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請讓我來向大家介紹Beery兄弟，
04:35
diagnosed with cerebral palsy at the age of two.
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在2歲時候被診斷出大腦性癱瘓。
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Their mom is a very brave woman
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他們的母親是一位非常勇敢的女性
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who didn't believe that the symptoms weren't matching up,
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她不相信這是真正的病因。實際症狀與診斷並不相符，
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and through some heroic efforts and a lot of Internet searching,
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通過英勇的努力與大量的網上搜索，
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she was able to convince the medical community
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她成功地說服醫療人員
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that, in fact, they had something else.
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實際上孩子患上的是其他疾病。
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What they had was dopa-responsive dystonia.
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他們所患的是多巴反應性肌張力障礙。
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And so they were given L-Dopa,
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於是對他們使用了左旋多巴，
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and their symptoms did improve,
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症狀的確有所改善，
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but they weren't totally asymptomatic.
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但是沒有完全消除。
04:57
Significant problems remained.
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嚴重的問題仍然存在。
04:59
Turns out the gentleman in this picture is a guy named Joe Beery,
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幸運的是 照片裏有一位叫做Joe Beery男士,
05:01
who was lucky enough to be the CIO
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他在一家叫做生命科技的公司
05:03
of a company called Life Technologies.
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擔任首席資訊長的職務。
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They're one of the two companies
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他們是現有的兩家
05:07
that makes these massive whole genome sequencing tools.
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開發大量全基因組測序工具的公司之一。
05:10
And so what he did was he got his kids sequenced.
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他將自己孩子的基因進行測序。
05:13
And what they found was a series of mutations in a gene called SPR,
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結果在一個叫做SPR的基因里發現一系列異變
05:16
which is responsible for producing serotonin, among other things.
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這個基因負責產生的物質裏包括血清素。
05:20
So on top of L-Dopa, they gave these kids a serotonin precursor drug,
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所以在左旋多巴的基礎上他們再給這些孩子使用血清素激發藥物。
05:23
and they're effectively normal now.
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現在他們過上完全正常的生活。
05:25
Guys, this would never have happened without whole genome sequencing.
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沒有全基因組測序，這樣的事情永遠不可能實現。
05:28
And at the time -- this was a few years ago -- it cost $100,000.
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在幾年前，全基因組測序要花費10萬美元。
05:30
Today it's $10,000. Next year it's $1,000.
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今天的價格是一萬美元，明年就是一千美元。
05:32
The year after it's $100, give or take a year.
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到了後年或者大後年可能就是100美元。
05:34
That's how fast this is moving.
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價格移動的就是如此之快。
05:36
So here's little Nick --
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這是小Nick.
05:38
likes Batman and squirt guns.
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喜歡蝙蝠俠與水槍。
05:41
And it turns out Nick shows up at the children's hospital
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Nick來到兒童醫院
05:44
with this distended belly like a famine victim.
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他的肚子腫脹地像營養不良的小孩
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And it's not that he's not eating,
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他並不是沒有吃東西
05:48
it's that when he eats, his intestine basically opens up
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而是無論他吃甚麼，腸道都會自動打開
05:50
and feces spill out into his gut.
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排泄物溢出到他的體內。
05:52
So a hundred surgeries later,
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經歷了無數的手術後，
05:54
he looks at his mom and says, "Mom,
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他看著他的媽媽說：媽媽，
05:57
please pray for me. I'm in so much pain."
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請為我祈禱，真是太疼了。“
06:00
His pediatrician happens to have a background in clinical genetics
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他的兒童科醫師恰巧有臨床遺傳學的背景
06:03
and he has no idea what's going on,
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他不知道病因到底是甚麼
06:05
but he says, "Let's get this kid's genome sequenced."
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但是他決定為這個孩子做基因測序。
06:07
And what they find is a single-point mutation
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他發現的是在一個控制細胞死亡
06:09
in a gene responsible for controlling programmed cell death.
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的基因上有一處單點變異
06:12
So the theory is that he's having some immunological reaction
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原因就是他的身體對食物
06:15
to what's going on to the food essentially,
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產生了一種會導致程序性細胞死亡的
06:18
and that's a natural reaction, which causes some programmed cell death.
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免疫性反應，這原本很正常一種的反應。
06:21
But the gene that regulates that down is broken.
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但是管控這個機制的基因失效了。
06:23
And so this informs, among other things, of course,
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這個結果使醫院在對他的
06:25
a treatment for bone marrow transplant, which he undertakes.
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治療方案中加入了骨髓移植手術，
06:28
And after nine months of grueling recovery,
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在經過9個月迅速地恢復後，
06:30
he's now eating steak with A1 sauce.
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他現在在吃沾著A1醬汁的牛排了。
06:32
(Laughter)
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（笑聲）
06:34
The prospect of using the genome
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今天使用基因組來
06:36
as a universal diagnostic
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作為普遍診斷的前景
06:38
is upon us today.
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已經來到我們身邊
06:40
Today, it's here.
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今天，已經是可行的了
06:42
And what it means for all of us
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對我們所有人這意味著
06:44
is that everybody in this room could live an extra five, 10, 20 years
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額外的5年，10年，20年的壽命
06:47
just because of this one thing.
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就是這一項技術。
06:49
Which is a fantastic story,
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真是一個美妙的故事，
06:51
unless you think about humanity's footprint on the planet
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你如果不去想到人類在地球上占有的空間
06:54
and our ability to keep up food production.
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以及我們如何提高食物產能等等這些問題的話
06:56
So it turns out
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結果就是
06:58
that the very same technology
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同樣的技術
07:00
is also being used to grow new lines
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也能用來製造新一代的
07:02
of corn, wheat, soybean and other crops
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對乾旱，洪水，害蟲和殺蟲劑
07:05
that are highly tolerant of drought, of flood,
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有超強抵抗力的玉米，小麥，
07:07
of pests and pesticides.
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大豆和其他糧食。
07:09
Now look, as long as we continue to increase the population,
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只要我們的人口繼續在增長，
07:12
we're going to have to continue to grow and eat genetically modified foods,
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我們就必須培養和食用更多的轉基因食物，
07:15
and that's the only position that I'll take today.
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這是我今天唯一的立場。
07:18
Unless there's anybody in the audience
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除非觀眾里有人
07:20
that would like to volunteer to stop eating?
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自願不再吃東西？
07:22
None, not one.
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沒有，一個都沒有。
07:24
This is a typewriter,
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這是一個打字機，
07:26
a staple of every desktop for decades.
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數十年來，所有辦公桌上的主要用品之一。
07:29
And in fact, the typewriter was essentially deleted by this thing.
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實際上，打字機基本上被這台設備淘汰了。
07:33
And then more general versions of word processors came about.
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然後更普遍的文字處理機出現了。
07:36
But ultimately, it was a disruption on top of a disruption.
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最終，在顛覆性的技術上出現了更顛覆性的技術。
07:39
It was Bob Metcalfe inventing the Ethernet
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Bob Metcalfe發明了以太網
07:41
and the connection of all these computers
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連接起了所有電腦
07:43
that fundamentally changed everything.
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徹底地改變了一切。
07:45
And suddenly we had Netscape, and we had Yahoo
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突然間我們有了Netscape,然後有了Yahoo
07:48
and we had, indeed, the entire dotcom bubble.
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再然後我們有了整個網路泡沫。
07:51
(Laughter)
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（笑聲）
07:54
Not to worry though,
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不過不用擔心，
07:56
that was quickly rescued by the iPod, Facebook
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很快地就被Ipod，Facebook
07:58
and, indeed, angry birds.
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和憤怒的小鳥（angry bird ）拯救了
08:00
(Laughter)
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（笑聲）
08:02
Look, this is where we are today.
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這就是我們今天所處的位置。
08:05
This is the genomic revolution today. This is where we are.
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這就是今天的基因革命。
08:07
So what I'd like you to consider is:
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我希望你們思考的是：
08:09
What does it mean
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當這些不僅僅代表
08:11
when these dots don't represent the individual bases of your genome,
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你個人基因組的基對，而是與全世界的
08:14
but they connect to genomes all across the planet?
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基因組聯繫再一起意味著甚麼？
08:17
So I just recently had to buy life insurance.
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我最近剛買了人身保險。
08:19
And I was required to answer:
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我被要求回答：
08:21
A. I have never had a genetic test, B. I've had one, here you go,
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A 我從沒有過基因測試，B 我有過基因測試，
08:24
and C. I've had one and I'm not telling.
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和C 我有過但是不告訴你。
08:26
Thankfully, I was able to answer A,
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還好我可以選A，
08:28
and I say that honestly in case my life insurance agent is listening.
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我是非常誠實地在講，以防我的保險經紀人在聽這個演講。
08:31
But what would have happened if I had said C?
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但是如果我選了C會怎樣？
08:34
Consumer applications for genomics, they will flourish.
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與基因組相關的商業應用會遍地開花。
08:36
Do you want to see whether you're genetically compatible
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如果你想瞭解自己與女朋友基因上
08:38
with your girlfriend? Sure.
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是不是相適合？當然可以。
08:40
DNA sequencing on your iPhone? There's an app for that.
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DNA在你的Iphone上進行測序？也有一個app可以做到。
08:43
(Laughter)
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（笑聲）
08:45
Personalized genomic massage anyone?
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有誰想做個個人基因按摩嗎？
08:48
There's already a lab today
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今天已經有實驗室
08:50
that tests for allele 334 of the AVPR1 gene,
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在測試AVPR1基因上的allele 334，
08:52
the so-called cheating gene.
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就是所謂的欺騙基因。
08:54
So anybody who's here today with your significant other,
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現場任何人帶了你的另一半來的話，
08:58
just turn over to them and swab their mouth,
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轉向他們並在他們口中取些樣本，
09:00
send it to the lab and you'll know for sure.
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送到實驗室你就會知道了。
09:02
(Laughter)
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（笑聲）
09:04
Do you really want to elect a president
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你想選舉一位基因上表現出
09:06
whose genome suggests cardiomyopathy?
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有心肌病隱患的總統嗎？
09:08
Now think of it, it's 2016
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想像一下現在是2016年
09:10
and the leading candidate releases
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優勢的總統競選人不僅
09:11
not only her four years of back tax returns,
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發佈了她過去四年中的退稅情況，
09:13
but also her personal genome.
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也公開她的個人基因組
09:15
And it looks really good.
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它看起來非常好。
09:17
And then she challenges all of her competitors to do the same.
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接著這位競選人也要求她的競爭對手做同樣的事情
09:19
Do you think that's not going to happen?
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你難道認為這一定不會發生？
09:21
Do you think it would have helped John McCain?
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你覺得這會幫助麥凱恩嗎？
09:23
(Laughter)
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（笑聲）
09:25
How many people in the audience
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在場觀眾中有多少人
09:27
have the last name Resnick like me? Raise your hand.
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有和我一樣的姓氏Resnick?請舉起手來。
09:29
Anybody? Nobody.
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有嗎？沒有。
09:31
Typically, there's one or two.
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通常會有一兩個。
09:33
So my father's father was one of 10 Resnick brothers.
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我父親的父親是10個Resnick兄弟中的一名。
09:35
They all hated each other.
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他們都互討厭，
09:37
And they all moved to different parts of the planet.
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分散到了全世界各地。
09:39
So it's likely
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所以我可能和任何一個我遇到的
09:41
that I'm related to every Resnick that I ever meet, but I don't know.
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Resnick是遠親關係，只是我不知道而已。
09:44
But imagine if my genome were deidentified, sitting in software,
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想像一下如果我的基因被辨識後紀錄在軟體中，
09:47
and a third cousin's genome was also sitting there,
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而我的一個表兄的基因也被紀錄下來
09:49
and there was software that could compare these two
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然後有軟體可以比較這兩組基因
09:51
and make these associations.
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並做出關連。
09:53
Not hard to imagine. My company has software that does this right now.
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不難想像，我公司里現在就有這樣的軟體
09:56
And so imagine one more thing:
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再想像一下另一件事：
09:58
that that software is able to ask both parties for mutual consents,
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這個軟體可以徵求雙方的同意
10:01
"Would you be willing to meet your third cousin?"
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你希望與你的三表兄相見嗎？
10:03
And if we both say yes,
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如果我們都同意，
10:05
voila! Welcome to chromosomally LinkedIn.
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哇啦！歡迎來到染色體Linkedin.
10:07
(Laughter)
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（笑聲）
10:11
Now this is probably a good thing, right?
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這應該是一件好事，對嗎？
10:13
You have bigger clan gatherings and so on.
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集合更多的家族成員和其他可能性，
10:15
But maybe it's a bad thing as well.
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但是這也可能是一件壞事。
10:17
How many fathers in the room? Raise your hands.
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房間里有多少做父親的？舉起手來。
10:19
Okay, so experts think that one to three percent of you
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Okay,有專家認為你們中有1％到3％
10:22
are not actually the father of your child.
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並不是自己孩子的親生父親。
10:24
(Laughter)
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（笑聲）
10:26
Look --
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這個－
10:28
(Laughter)
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（笑聲）
10:32
These genomes, these 23 chromosomes,
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這些基因組，這23對染色體，
10:35
they don't in any way represent the quality of our relationships
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他們並不能反應人與人之間的關係或者我們
10:38
or the nature of our society -- at least not yet.
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社會的天性－至少現在還不能。
10:40
And like any new technology,
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和任何新興的技術一樣，
10:42
it's really in humanity's hands
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它完全取決與人類是否
10:44
to wield it for the betterment of mankind, or not.
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將它使用在對人類的有益處的地方。
10:47
And so I urge you all to wake up and to tune in
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我希望你們全都覺醒並關注
10:50
and to influence the genomic revolution that's happening all around you.
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影響這時刻發生在大家身邊的遺傳學革命
10:53
Thank you.
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謝謝
10:55
(Applause)
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（掌聲）
ABOUT THE SPEAKER
Richard Resnick - EntrepreneurRichard Resnick is on the front lines of the business of genomes, as CEO of GenomeQuest, a maker of genomic software.
Why you should listen
Richard Resnick is CEO of GenomeQuest , a company that builds software to support genomic medicine -- research and individualized treatments that take advantage of cheap and accessible genome processing. He was previously CEO of Mosaic Bioinformatics; before becoming a bio-entrepreneur, he was a member of the Human Genome Project under Eric Lander at MIT.
Richard Resnick | Speaker | TED.com