Ladies and gentlemen, I present to you the human genome.
女士們先生們, 我為大家展示一下人類基因組。
(Applause)
(掌聲)
Chromosome one -- top left, bottom right -- are the sex chromosomes. Women have two copies of that big X chromosome; men have the X and, of course, that small copy of the Y. Sorry boys, but it's just a tiny little thing that makes you different. So if you zoom in on this genome, then what you see, of course, is this double-helix structure -- the code of life spelled out with these four biochemical letters, or we call them bases: A, C, G and T. How many are there in the human genome? Three billion. Is that a big number? Well, everybody can throw around big numbers. But in fact, if I were to place one base on each pixel of this 1280x800-resolution screen, we would need 3,000 screens to take a look at the genome. So it's really quite big.
染色體一,左上角 性染色體在右下角。 女生有兩份大的X染色體; 男生有一份X染色體 還有一份小的Y染色體。 很抱歉各位男士,讓你們有所不同的只是那一個小東西。 如果我們放大這個基因組的圖片, 會看到雙螺旋結構 生命的編碼是由四個生化字符編寫出來, 我們稱之為基對: A,C,G和T。 人類基因組有多少基對呢? 30億。 這是一個很大的數字嗎? 每個人都可以隨便講一些很大的數字出來。 如果我把這1280像素高800像素寬的螢幕上 每一個像素都用一個基對替換 我們需要3000塊這麼大的螢幕來觀察這基因組 所以這個數字真的是很大。
And perhaps because of its size, a group of people -- all, by the way, with Y chromosomes -- decided they would want to sequence it.
或許是因為這麼大 有一群人有Y染色體的人 決定想要把為它排序
(Laughter)
(笑聲)
And so 15 years, actually, and about four billion dollars later, the genome was sequenced and published. In 2003, the final version was published, and they keep working on it. That was all done on a machine like this. It costs about a dollar for each base -- a very slow way of doing it.
15年前開始,花費了40億美金後 對基因組的排序終於完成並發表。 2003年,最終的版本發表,人們繼續對它的研究。 這一切都是在這樣的一台儀器上完成的。 每排序一個基對花費一美元左右 而且也是非常慢的一種做法。
Well, folks, I'm here to tell you that the world has completely changed, and none of you know about it. So now what we do is take a genome, we make maybe 50 copies of it, we cut all those copies up into little 50-base reads, and then we sequence them, massively parallel. Then we bring that into software and reassemble it, and tell you what the story is. So to give you a picture of what this looks like, the Human Genome Project: 3 gigabases, right? One run on one of these modern machines: 200 gigabases in a week. And that 200 is going to change to 600 this summer, and there's no sign of this pace slowing. The price of a base, to sequence a base, has fallen 100 million times. That's the equivalent of you filling up your car with gas in 1998, waiting until 2011, and now you can drive to Jupiter and back twice.
但是我要告訴大家 這世界已經發生了天翻地覆的變化 然而你們卻都渾然不覺。 現在我們把一個基因組 複製50份 然後把他們切割為50基對 接著我們就對他們進行大量並行地排序。 然後將結果輸入到軟體中 加以組合然後我們可以得出結論。 給大家看一張圖片來瞭解 人類基因組計畫:30億基對 在這些儀器上進行排序 每週可以完成2000億基對。 而且這個夏天它的速度會變成6000億基對 這速度上的進展絲毫沒有減慢的跡象。 對一個基對排序的價格 已經下跌了一億倍。 這就相當於你在1998年給汽車加滿一次油的錢 放到2011年 可以讓你在地球和木星之間來回開2次。
(Laughter)
{笑聲}
World population, PC placements, the archive of all of medical literature, Moore's law, the old way of sequencing, and here's all the new stuff. Guys, this is a long scale; you don't typically see lines that go up like that. So the worldwide capacity to sequence human genomes is something like 50,000 to 100,000 human genomes this year. We know this based on the machines that are being placed. This is expected to double, triple or maybe quadruple year over year for the foreseeable future. In fact, there's one lab in particular that represents 20 percent of all that capacity: It's called the Beijing Genomics Institute. The Chinese are absolutely winning this race to the new Moon, by the way. What does this mean for medicine?
世界人口, 電腦普及, 所以醫療文獻的存檔, 摩爾定律, 早期的排序方法,這是新的技術。 這是一個按指數擴大的情況; 你通常是不會看到這樣的走勢的。 全世界用於人類基因組測序的能力 可以在今年做到5萬到10萬個人類基因組。 我們是從已經投入應用的儀器來判斷這個數字。 在可預見的未來裏每年這個數字都會翻倍, 或是以三倍甚至四倍的速度增長。 有一個實驗室 佔據了全世界測序能力的20%。 它叫做“華大基因”。 中國在這場新的“登月競賽”中處於領先。 對於醫學這意味著甚麼呢?
So a woman, age 37, presents with stage 2 estrogen receptor-positive breast cancer. She is treated with surgery, chemotherapy and radiation. She goes home. Two years later, she comes back with stage 3C ovarian cancer, unfortunately; treated again with surgery and chemotherapy. She comes back three years later at age 42 with more ovarian cancer, more chemotherapy. Six months later, she comes back with acute myeloid leukemia. She goes into respiratory failure and dies eight days later.
有一個37歲的女性。 她出現了階段2的雌激素受阻體陽性乳腺癌。 經歷了手術,化療和放射性治療 回到了家裡。 兩年以後她又發現了三C期的卵巢癌。 她又接受了手術和化療,不幸的是 三年後她42歲,又發現了更多的卵巢癌 回到醫院,再接受更多的化療。 6個月後, 她又患上了急性骨髓性白血病 最終因呼吸道衰竭在8天以後逝世。
So first: the way in which this woman was treated, in as little as 10 years, will look like bloodletting. And it's because of people like my colleague, Rick Wilson, at the Genome Institute at Washington University, who decided to take a look at this woman postmortem. And he took skin cells, healthy skin and cancerous bone marrow, and sequenced the whole genomes of both of them in a couple of weeks, no big deal. Then he compared those two genomes in software, and what he found, among other things, was a deletion -- a 2,000-base deletion across three billion bases in a particular gene called TP53. If you have this deleterious mutation in this gene, you're 90 percent likely to get cancer in your life.
在短短的10年中,這名婦女接受的治療 將會看起來如同放血一般。 因為我在華盛頓大學 基因研究院的同事Rick Wilson 決定要研究一下這名婦女的遺體進行檢驗 他提取了她正常皮膚細胞和發生癌變的 骨髓細胞並進行測序 在幾周的時間里,他對兩個基因組 進行了徹底的排序。 然後在軟體中比對這兩組基因 他在30億基對中的 一個叫做TP53的基因上 發現了一段 2000基對的基因缺損。 如果你在這個基因上有此類缺損的異變, 你一生中有90%的可能性會患上癌症。
So unfortunately, this doesn't help this woman, but it does have severe -- profound, if you will -- implications to her family. I mean, if they have the same mutation, and they get this genetic test and they understand it, then they can get regular screens and can catch cancer early, and potentially live a significantly longer life.
不幸的是這個發現對這婦女沒有任何幫助, 但是這對她的家人, 有非常重要的影響。 如果他們有相同的異變, 接受這基因檢測,並對它有所瞭解, 他們可以定時地做篩檢,及早發現癌症 藉此可能大大延長壽命。
Let me introduce you to the Beery twins, diagnosed with cerebral palsy at the age of two. Their mom is a very brave woman who didn't believe it; the symptoms weren't matching up. And through some heroic efforts and a lot of Internet searching, she was able to convince the medical community that, in fact, they had something else. They had dopa-responsive dystonia. And so they were given L-Dopa, and their symptoms did improve, but they weren't totally asymptomatic. Significant problems remained.
請讓我來向大家介紹Beery兄弟, 在2歲時候被診斷出大腦性癱瘓。 他們的母親是一位非常勇敢的女性 她不相信這是真正的病因。實際症狀與診斷並不相符, 通過英勇的努力與大量的網上搜索, 她成功地說服醫療人員 實際上孩子患上的是其他疾病。 他們所患的是多巴反應性肌張力障礙。 於是對他們使用了左旋多巴, 症狀的確有所改善, 但是沒有完全消除。 嚴重的問題仍然存在。
Turns out the gentleman in this picture is a guy named Joe Beery, who was lucky enough to be the CIO of a company called Life Technologies. They're one of two companies that makes these massive whole-genome sequencing tools. And so he got his kids sequenced. What they found was a series of mutations in a gene called SPR, which is responsible for producing serotonin, among other things. So on top of L-Dopa, they gave these kids a serotonin precursor drug, and they're effectively normal now. Guys, this would never have happened without whole-genome sequencing. At the time -- this was a few years ago -- it cost $100,000. Today it's $10,000, next year, $1,000, the year after, $100, give or take a year. That's how fast this is moving.
幸運的是 照片裏有一位叫做Joe Beery男士, 他在一家叫做生命科技的公司 擔任首席資訊長的職務。 他們是現有的兩家 開發大量全基因組測序工具的公司之一。 他將自己孩子的基因進行測序。 結果在一個叫做SPR的基因里發現一系列異變 這個基因負責產生的物質裏包括血清素。 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。 現在他們過上完全正常的生活。 沒有全基因組測序,這樣的事情永遠不可能實現。 在幾年前,全基因組測序要花費10萬美元。 今天的價格是一萬美元,明年就是一千美元。 到了後年或者大後年可能就是100美元。 價格移動的就是如此之快。
So here's little Nick -- likes Batman and squirt guns. And it turns out Nick shows up at the children's hospital with this distended belly, like a famine victim. And it's not that he's not eating; it's that when he eats, his intestine basically opens up and feces spill out into his gut. So a hundred surgeries later, he looks at his mom and says, "Mom, please pray for me. I'm in so much pain." His pediatrician happens to have a background in clinical genetics and he has no idea what's going on, but he says, "Let's get this kid's genome sequenced." And what they find is a single-point mutation in a gene responsible for controlling programmed cell death. So the theory is that he's having some immunological reaction to what's going on -- to the food, essentially. And that's a natural reaction, which causes some programmed cell death, but the gene that regulates that down is broken. And so this informs, among other things, of course, a treatment for bone marrow transplant, which he undertakes. And after nine months of grueling recovery, he's now eating steak with A1 sauce.
這是小Nick. 喜歡蝙蝠俠與水槍。 Nick來到兒童醫院 他的肚子腫脹地像營養不良的小孩 他並不是沒有吃東西 而是無論他吃甚麼,腸道都會自動打開 排泄物溢出到他的體內。 經歷了無數的手術後, 他看著他的媽媽說:媽媽, 請為我祈禱,真是太疼了。“ 他的兒童科醫師恰巧有臨床遺傳學的背景 他不知道病因到底是甚麼 但是他決定為這個孩子做基因測序。 他發現的是在一個控制細胞死亡 的基因上有一處單點變異 原因就是他的身體對食物 產生了一種會導致程序性細胞死亡的 免疫性反應,這原本很正常一種的反應。 但是管控這個機制的基因失效了。 這個結果使醫院在對他的 治療方案中加入了骨髓移植手術, 在經過9個月迅速地恢復後, 他現在在吃沾著A1醬汁的牛排了。
(Laughter)
(笑聲)
The prospect of using the genome as a universal diagnostic is upon us today. Today. It's here. And what it means for all of us is that everybody in this room could live an extra 5, 10, 20 years, just because of this one thing. Which is a fantastic story, unless you think about humanity's footprint on the planet, and our ability to keep up food production. So it turns out that the very same technology is also being used to grow new lines of corn, wheat, soybean and other crops that are highly tolerant of drought, of flood, of pests and pesticides. Now, look -- as long as we continue to increase the population, we'll have to continue to grow and eat genetically modified foods. And that's the only position I'll take today. Unless there's anybody in the audience who'd like to volunteer to stop eating? None, not one.
今天使用基因組來 作為普遍診斷的前景 已經來到我們身邊 今天,已經是可行的了 對我們所有人這意味著 額外的5年,10年,20年的壽命 就是這一項技術。 真是一個美妙的故事, 你如果不去想到人類在地球上占有的空間 以及我們如何提高食物產能等等這些問題的話 結果就是 同樣的技術 也能用來製造新一代的 對乾旱,洪水,害蟲和殺蟲劑 有超強抵抗力的玉米,小麥, 大豆和其他糧食。 只要我們的人口繼續在增長, 我們就必須培養和食用更多的轉基因食物, 這是我今天唯一的立場。 除非觀眾里有人 自願不再吃東西? 沒有,一個都沒有。 這是一個打字機,
This is a typewriter, a staple of every desktop for decades. And, in fact, the typewriter was essentially deleted by this thing. And then more general versions of word processors came about. But ultimately, it was a disruption on top of a disruption. It was Bob Metcalfe inventing the Ethernet, and the connection of all these computers that fundamentally changed everything. Suddenly we had Netscape, we had Yahoo. And we had, indeed, the entire dot-com bubble.
數十年來,所有辦公桌上的主要用品之一。 實際上,打字機基本上被這台設備淘汰了。 然後更普遍的文字處理機出現了。 最終,在顛覆性的技術上出現了更顛覆性的技術。 Bob Metcalfe發明了以太網 連接起了所有電腦 徹底地改變了一切。 突然間我們有了Netscape,然後有了Yahoo 再然後我們有了整個網路泡沫。
(Laughter)
(笑聲)
Not to worry though, that was quickly rescued by the iPod, Facebook and, indeed, Angry Birds.
不過不用擔心, 很快地就被Ipod,Facebook 和憤怒的小鳥(angry bird )拯救了
(Laughter)
(笑聲)
Look, this is where we are today. This is the genomic revolution today. This is where we are. What I'd like you to consider is: What does it mean when these dots don't represent the individual bases of your genome, but they connect to genomes all across the planet? I just recently had to buy life insurance, and I was required to answer: A. I have never had a genetic test; B. I've had one, here you go; or C. I've had one and I'm not telling. Thankfully, I was able to answer A, and I say that honestly, in case my life insurance agent is listening. But what would have happened if I had said C?
這就是我們今天所處的位置。 這就是今天的基因革命。 我希望你們思考的是: 當這些不僅僅代表 你個人基因組的基對,而是與全世界的 基因組聯繫再一起意味著甚麼? 我最近剛買了人身保險。 我被要求回答: A 我從沒有過基因測試,B 我有過基因測試, 和C 我有過但是不告訴你。 還好我可以選A, 我是非常誠實地在講,以防我的保險經紀人在聽這個演講。 但是如果我選了C會怎樣? 與基因組相關的商業應用會遍地開花。
Consumer applications for genomics will flourish. Do you want to see if you're genetically compatible with your girlfriend? DNA sequencing on your iPhone? There's an app for that.
如果你想瞭解自己與女朋友基因上 是不是相適合?當然可以。 DNA在你的Iphone上進行測序?也有一個app可以做到。 (笑聲)
(Laughter)
Personalized genomic massage, anyone? There's already a lab today that tests for allele 334 of the AVPR1 gene, the so-called cheating gene.
有誰想做個個人基因按摩嗎? 今天已經有實驗室 在測試AVPR1基因上的allele 334, 就是所謂的欺騙基因。
(Laughter)
現場任何人帶了你的另一半來的話,
So anybody who's here today with your significant other, just turn over to them, swab their mouth, send it to the lab and you'll know for sure.
轉向他們並在他們口中取些樣本, 送到實驗室你就會知道了。 (笑聲)
(Laughter)
你想選舉一位基因上表現出
Do you really want to elect a president whose genome suggests cardiomyopathy? Think of it -- it's 2016, and the leading candidate releases not only her four years of back-tax returns, but also her personal genome. And it looks really good. Then she challenges all her competitors to do the same. Do you think that's not going to happen? Do you think it would have helped John McCain?
有心肌病隱患的總統嗎? 想像一下現在是2016年 優勢的總統競選人不僅 發佈了她過去四年中的退稅情況, 也公開她的個人基因組 它看起來非常好。 接著這位競選人也要求她的競爭對手做同樣的事情 你難道認為這一定不會發生? 你覺得這會幫助麥凱恩嗎? (笑聲)
(Laughter)
在場觀眾中有多少人
How many people in the audience have the last name Resnick, like me? Raise your hand. Anybody? Nobody. Typically, there's one or two. So my father's father was one of 10 Resnick brothers. They all hated each other, and all moved to different parts of the planet. So it's likely I'm related to every Resnick that I ever meet, but I don't know. So imagine if my genome were De-identified, sitting in software, And a third cousin's genome was also sitting there, and there was software that could compare the two and make these associations. Not hard to imagine. My company has software that does this right now. Imagine one more thing, that that software is able to ask both parties for mutual consent: "Would you be willing to meet your third cousin?" And if we both say yes -- voilà! Welcome to Chromosomally LinkedIn.
有和我一樣的姓氏Resnick?請舉起手來。 有嗎?沒有。 通常會有一兩個。 我父親的父親是10個Resnick兄弟中的一名。 他們都互討厭, 分散到了全世界各地。 所以我可能和任何一個我遇到的 Resnick是遠親關係,只是我不知道而已。 想像一下如果我的基因被辨識後紀錄在軟體中, 而我的一個表兄的基因也被紀錄下來 然後有軟體可以比較這兩組基因 並做出關連。 不難想像,我公司里現在就有這樣的軟體 再想像一下另一件事: 這個軟體可以徵求雙方的同意 你希望與你的三表兄相見嗎? 如果我們都同意, 哇啦!歡迎來到染色體Linkedin.
(Laughter)
(笑聲)
Now this is probably a good thing, right? Bigger clan gatherings and so on. But maybe it's a bad thing as well. How many fathers in the room? Raise your hands. OK, so experts think that one to three percent of you are not actually the father of your child.
這應該是一件好事,對嗎? 集合更多的家族成員和其他可能性, 但是這也可能是一件壞事。 房間里有多少做父親的?舉起手來。 Okay,有專家認為你們中有1%到3% 並不是自己孩子的親生父親。
(Laughter)
(笑聲)
Look --
這個-
(Laughter)
(笑聲)
These genomes, these 23 chromosomes, they don't in any way represent the quality of our relationships or the nature of our society -- at least not yet. And like any new technology, it's really in humanity's hands to wield it for the betterment of mankind or not. And so I urge you all to wake up and to tune in and to influence the genomic revolution that's happening all around you.
這些基因組,這23對染色體, 他們並不能反應人與人之間的關係或者我們 社會的天性-至少現在還不能。 和任何新興的技術一樣, 它完全取決與人類是否 將它使用在對人類的有益處的地方。 我希望你們全都覺醒並關注 影響這時刻發生在大家身邊的遺傳學革命 謝謝
Thank you.
(Applause)
(掌聲)