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TEDxBoston 2011

Richard Resnick: Welcome to the genomic revolution

リチャード・レズニック「ゲノム革命の時代へようこそ」

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TEDxBostonで行われたこのわかりやすいスピーチの中で、リチャード・レズニックが、どれほど安価に、そして速く、ゲノムの配列解析が健康管理(そして保険や政治)を激変させようとしているのかを語ります。

- Entrepreneur
Richard Resnick is on the front lines of the business of genomes, as CEO of GenomeQuest, a maker of genomic software. Full bio

Ladies and gentlemen,
皆さん
00:15
I present to you the human genome.
人間のゲノムをお見せしましょう
00:17
(Applause)
(拍手)
00:20
Chromosome one, top left.
第1染色体が左上にあって
00:23
Bottom right are the sex chromosomes.
右下は性染色体です
00:25
Women have two copies of that big X chromosome;
女性は大きい性染色体Xを2本持ち
00:27
men have the X
男性はXと小さい性染色体Yを
00:29
and, of course, that small copy of the Y.
持っています
00:31
Sorry boys, but it's just a tiny little thing that makes you different.
男性の皆さん 残念ですが女性との差はたったこれだけです
00:33
So if you zoom in on this genome,
この染色体を拡大すると
00:37
then what you see, of course, is this double helix structure --
二重らせん構造が現れ
00:40
the code of life spelled out with these four biochemical letters,
生命の情報が 4種類の遺伝記号
00:43
or we call them bases, right:
A, C, G, T という塩基で
00:45
A, C, G and T.
記されています
00:47
How many are there in the human genome? Three billion.
人間は30億個の塩基を持っています
00:49
Is that a big number?
ものすごい数でしょう?
00:51
Well, everybody can throw around big numbers.
数が大きいと訳がわからなくなりますが
00:53
But in fact, if I were to place one base
1280x800の解像度の画面に
00:55
on each pixel of this 1280 by 800 resolution screen,
1ピクセルあたり1つの塩基を置くと
00:57
we would need 3,000 screens to take a look at the genome.
ゲノムを見渡すのに3,000の画面が必要です
01:00
So it's really quite big.
本当にものすごい数です
01:03
And perhaps because of its size,
巨大だったからかもしれませんが
01:05
a group of people -- all, by the way, with Y chromosomes --
Y染色体を持つ人たちのグループが
01:07
decided they would want to sequence it.
配列の解析をしようと思いつきました
01:10
(Laughter)
(笑)
01:12
And so 15 years, actually, and about four billion dollars later,
15年と40億ドルのお金をかけて
01:14
the genome was sequenced and published.
ゲノムの配列が解析・公表されました
01:17
In 2003, the final version was published, and they keep working on it.
2003年には最終版が公表され 今も研究が続いています
01:19
That was all done on a machine that looks like this.
解析はこんな機械で行われました
01:22
It costs about a dollar for each base --
塩基一つあたり約1ドルかかり
01:24
a very slow way of doing it.
時間がかかるやり方です
01:26
Well folks, I'm here to tell you
でも皆さん 私はこの状態が
01:28
that the world has completely changed
一変していることに
01:30
and none of you know about it.
誰も気づいてないと言いたいのです
01:32
So now what we do is we take a genome,
現在は一つのゲノムに対し
01:34
we make maybe 50 copies of it,
50個ほどのコピーを作り
01:36
we cut all those copies up into little 50-base reads,
50個に分けた塩基の配列をそれぞれ
01:38
and then we sequence them, massively parallel.
並行して解読するやり方です
01:41
And then we bring that into software,
それをソフトウェアに入力して
01:43
and we reassemble it and we tell you what the story is.
再構成して結果を出します
01:45
And so just to give you a picture of what this looks like,
これがどんな感じかと言うと ヒトゲノム計画では
01:47
the Human Genome Project: 3 gigabases, right.
30億の塩基を調べました
01:50
One run on one of these machines:
この機械を使えば
01:52
200 gigabases in a week.
1週間で2千億個の塩基が分析できます
01:54
And that 200 is going to change to 600 this summer,
この夏には6千億になり
01:57
and there's no sign of this pace slowing.
まだまだスピードは上がりそうです
02:00
So the price of a base, to sequence a base,
ですから塩基1つの配列解析のコストは
02:03
has fallen 100 million times.
100万分の1になりました
02:06
That's the equivalent of you filling up your car with gas in 1998,
これは1998年に満タンにした車のガソリンで
02:09
waiting until 2011,
2011年になったら
02:12
and now you can drive to Jupiter and back twice.
木星まで2往復できたのと同じです
02:14
(Laughter)
(笑)
02:16
World population,
世界の人口や
02:21
PC placements,
パソコンの台数
02:23
the archive of all the medical literature,
全ての医学論文のアーカイブ
02:25
Moore's law,
ムーアの法則
02:28
the old way of sequencing, and here's all the new stuff.
従来の解析方法 そしてこれが全く新しい方法です
02:30
Guys, this is a log scale;
このグラフは対数尺度です
02:33
you don't typically see lines that go up like that.
線がこんな感じに跳ね上がることは普通ありません
02:35
So the worldwide capacity to sequence human genomes
世界でヒトゲノムを解析するスピードは
02:38
is something like 50,000 to 100,000 human genomes this year.
今のところ年に5万から10万人分です
02:41
And we know this based on the machines that are being placed.
使われている機器に基づく推定です
02:44
This is expected to double, triple or maybe quadruple
当分は 年ごとに2倍 3倍もしくは4倍に
02:47
year over year for the foreseeable future.
増えていくことでしょう
02:50
In fact, there's one lab in particular
実際の話 ある研究所は
02:52
that represents 20 percent of all that capacity.
世界の2割の解析能力を持っています
02:54
It's called the Beijing Genomics Institute.
北京ゲノム研究所です
02:57
The Chinese are absolutely winning this race to the new Moon, by the way.
中国は現代版「月レース」で着実に勝利を収めつつあります
03:00
What does this mean for medicine?
医療における影響は何でしょう?
03:04
So a woman is age 37.
ある37歳の女性がいました
03:06
She presents with stage 2 estrogen receptor-positive breast cancer.
ステージ2のエストロゲン性乳がんにかかり
03:08
She is treated with surgery, chemotherapy and radiation.
手術 化学療法 放射線療法を受け
03:12
She goes home.
退院しました
03:15
Two years later, she comes back with stage three C ovarian cancer.
2年後 ステージ3の卵巣がんになり再入院しました
03:17
Unfortunately, treated again with surgery and chemotherapy.
残念なことに 治療はまた手術と化学療法でした
03:20
She comes back three years later at age 42
3年後 42歳で卵巣がんが再発し
03:23
with more ovarian cancer, more chemotherapy.
また化学療法を受けました
03:25
Six months later,
そして半年後
03:28
she comes back with acute myeloid leukemia.
急性の骨髄性白血病になり
03:30
She goes into respiratory failure and dies eight days later.
呼吸不全を起こして8日後に亡くなりました
03:34
So first, the way in which this woman was treated, in as little as 10 years,
まず この女性が受けた治療は10年もしないうちに
03:37
will look like bloodletting.
瀉血のように根拠がないものだと見なされるでしょう
03:40
And it's because of people like my colleague, Rick Wilson,
ワシントン大学のゲノム研究所にいる
03:43
at the Genome Institute at Washington University,
私の同僚のリック・ウィルソンたちが
03:45
who decided to take a look at this woman postmortem.
遺体を検視したおかげです
03:48
And he sequenced, he took skin cells, healthy skin,
健康な皮膚の細胞と がんにかかった骨髄を採取し
03:50
and cancerous bone marrow,
2週間で
03:53
and he sequenced the whole genomes of both of them
両方のゲノムを解析しました
03:55
in a couple of weeks, no big deal.
大したことではありません
03:57
And then he compared those two genomes in software,
そしてこの2つのゲノムを比較し
04:00
and what he found, among other things,
発見したことの1つが
04:02
was a deletion, a 2,000-base deletion
30億の塩基のうち2千個が
04:04
across three billion bases
TP53という特定の遺伝子の中で
04:06
in a particular gene called TP53.
欠損していることでした
04:08
If you have this deleterious mutation in this gene,
この遺伝子に有害突然変異が起きると
04:10
you're 90 percent likely to get cancer in your life.
90%の確率でがんにかかります
04:13
So unfortunately, this doesn't help this woman,
あの女性を助けることにはなりませんが
04:16
but it does have severe, profound if you will,
彼女の家族に対しては
04:18
implications to her family.
厳しく深刻な意味を持っています
04:21
I mean, if they have the same mutation,
もし彼らに同じ変異があって
04:23
and they get this genetic test, and they understand it,
それが遺伝子検査でわかれば
04:25
then they can go and get regular screens, and they can catch cancer early
定期的に検査することで がんを早期発見でき
04:28
and potentially live a significantly longer life.
寿命を大幅に伸ばせるかもしれません
04:31
Let me introduce you now to the Beery twins,
ビアリー家の双子の話をします
04:33
diagnosed with cerebral palsy at the age of two.
2歳の時 脳性麻痺と診断されました
04:35
Their mom is a very brave woman
母親は決然とした人で
04:37
who didn't believe that the symptoms weren't matching up,
症状のつじつまが合わない筈はないと
04:39
and through some heroic efforts and a lot of Internet searching,
多大な努力とネット検索の末に
04:41
she was able to convince the medical community
子どもは脳性麻痺ではないことを 医学界に
04:43
that, in fact, they had something else.
納得させました
04:46
What they had was dopa-responsive dystonia.
実際にはドーパ反応性ジストニアだったのです
04:48
And so they were given L-Dopa,
L-Dopaという薬を処方され
04:51
and their symptoms did improve,
症状は改善しましたが
04:53
but they weren't totally asymptomatic.
完全にはなくならず
04:55
Significant problems remained.
まだ障害を抱えていました
04:57
Turns out the gentleman in this picture is a guy named Joe Beery,
でも写真の男ジョー・ビアリーは
04:59
who was lucky enough to be the CIO
運よくライフ・テクノロジーという
05:01
of a company called Life Technologies.
会社のCIOでした
05:03
They're one of the two companies
2社ある大型全ゲノム解析機の
05:05
that makes these massive whole genome sequencing tools.
製造企業の1つだったのです
05:07
And so what he did was he got his kids sequenced.
彼は自分の子どもたちのゲノムを解析し
05:10
And what they found was a series of mutations in a gene called SPR,
SPRという遺伝子に一連の変異があるのを見つけました
05:13
which is responsible for producing serotonin, among other things.
この遺伝子はセロトニンを作ります
05:16
So on top of L-Dopa, they gave these kids a serotonin precursor drug,
そこでL-Dopaに併せてセロトニン前駆薬を与えると
05:20
and they're effectively normal now.
子どもたちは全く正常になりました
05:23
Guys, this would never have happened without whole genome sequencing.
ゲノム解析がなければ起こり得なかったことです
05:25
And at the time -- this was a few years ago -- it cost $100,000.
数年前には10万ドルかかりましたが
05:28
Today it's $10,000. Next year it's $1,000.
今は1万ドル 来年には1,000ドル
05:30
The year after it's $100, give or take a year.
再来年ごろには100ドルになります
05:32
That's how fast this is moving.
これほど速く進歩しているのです
05:34
So here's little Nick --
この写真のニック君は
05:36
likes Batman and squirt guns.
バットマンと水鉄砲がお気に入りです
05:38
And it turns out Nick shows up at the children's hospital
飢餓の被害者のように膨らんだお腹で
05:41
with this distended belly like a famine victim.
小児科にきていました
05:44
And it's not that he's not eating,
物を食べていないのではなく
05:46
it's that when he eats, his intestine basically opens up
何かを食べると腸が開いて
05:48
and feces spill out into his gut.
消化物が胃に戻るのです
05:50
So a hundred surgeries later,
数え切れない手術のあと
05:52
he looks at his mom and says, "Mom,
彼は母親に言いました
05:54
please pray for me. I'm in so much pain."
「ママ 僕のためにお祈りして すごく痛いの」
05:57
His pediatrician happens to have a background in clinical genetics
主治医がたまたま臨床遺伝学を学んでいたので
06:00
and he has no idea what's going on,
問題が何か分からぬまま
06:03
but he says, "Let's get this kid's genome sequenced."
とにかくゲノムの解析をしました
06:05
And what they find is a single-point mutation
すると単一点突然変異が
06:07
in a gene responsible for controlling programmed cell death.
プログラム細胞死を司る遺伝子に起こっていました
06:09
So the theory is that he's having some immunological reaction
彼の体は食べ物に対して
06:12
to what's going on to the food essentially,
何らかの免疫反応を起こしていたようでした
06:15
and that's a natural reaction, which causes some programmed cell death.
これはプログラム細胞死を引き起こす自然な反応ですが
06:18
But the gene that regulates that down is broken.
下方制御する遺伝子が壊れていました
06:21
And so this informs, among other things, of course,
ここから
06:23
a treatment for bone marrow transplant, which he undertakes.
骨髄移植が必要だとわかり 手術が行われました
06:25
And after nine months of grueling recovery,
9か月間の厳しいリハビリを終え 今では
06:28
he's now eating steak with A1 sauce.
普通にステーキを食べています
06:30
(Laughter)
(笑)
06:32
The prospect of using the genome
万能の診断方法として
06:34
as a universal diagnostic
ゲノムを使える可能性が
06:36
is upon us today.
開けています
06:38
Today, it's here.
それはもう 実現しています
06:40
And what it means for all of us
どういうことかと言うと
06:42
is that everybody in this room could live an extra five, 10, 20 years
ゲノム診断により 会場の皆さんの寿命が
06:44
just because of this one thing.
5~20年ほど長くなるということです
06:47
Which is a fantastic story,
何と素晴らしい話でしょう
06:49
unless you think about humanity's footprint on the planet
人類の地球に対する負担や食糧増産の余地などを
06:51
and our ability to keep up food production.
考えなければ の話ですが
06:54
So it turns out
全く同じ技術は
06:56
that the very same technology
新しい種類のトウモロコシや
06:58
is also being used to grow new lines
大豆 その他の穀物を
07:00
of corn, wheat, soybean and other crops
育てることにも使われ
07:02
that are highly tolerant of drought, of flood,
干ばつや洪水 害虫や殺虫剤に強い
07:05
of pests and pesticides.
品種が生まれています
07:07
Now look, as long as we continue to increase the population,
人口が増えていく限り
07:09
we're going to have to continue to grow and eat genetically modified foods,
遺伝子組み換え食品を育て 口にしなければならない
07:12
and that's the only position that I'll take today.
それが今日 私が取る立場です
07:15
Unless there's anybody in the audience
食べなくてもいいという方が
07:18
that would like to volunteer to stop eating?
いれば話は別ですが
07:20
None, not one.
誰もいませんね
07:22
This is a typewriter,
これはタイプライターです
07:24
a staple of every desktop for decades.
何十年もの間 どの机にも置かれていました
07:26
And in fact, the typewriter was essentially deleted by this thing.
しかしこれによって実質的に消滅させられました
07:29
And then more general versions of word processors came about.
そしてより一般的なワープロが現れました
07:33
But ultimately, it was a disruption on top of a disruption.
要は途絶を重ねていったのだということです
07:36
It was Bob Metcalfe inventing the Ethernet
ボブ・メトカルフェがイーサネットを発明し
07:39
and the connection of all these computers
あらゆるコンピュータを結びつけ
07:41
that fundamentally changed everything.
全てを変えました
07:43
And suddenly we had Netscape, and we had Yahoo
気づいたときにはネットスケープとヤフーがいて
07:45
and we had, indeed, the entire dotcom bubble.
あのドットコム・バブルが起きました
07:48
(Laughter)
(笑)
07:51
Not to worry though,
でも心配は不要です
07:54
that was quickly rescued by the iPod, Facebook
iPodやフェイスブック そして
07:56
and, indeed, angry birds.
アングリーバードが救ってくれました
07:58
(Laughter)
(笑)
08:00
Look, this is where we are today.
私たちは今 ここにいます
08:02
This is the genomic revolution today. This is where we are.
ここが現時点のゲノム革命です
08:05
So what I'd like you to consider is:
考えてみて下さい
08:07
What does it mean
これらの点が
08:09
when these dots don't represent the individual bases of your genome,
あなたの個々の塩基を表しているのではなく
08:11
but they connect to genomes all across the planet?
世界中のゲノムの繋がりだとしたら
08:14
So I just recently had to buy life insurance.
私は最近生命保険に入りました
08:17
And I was required to answer:
こんな質問に答えさせられました
08:19
A. I have never had a genetic test, B. I've had one, here you go,
A: 遺伝子検査を受けたことがない B: 受けたことがある
08:21
and C. I've had one and I'm not telling.
C: 受けたがそれについては答えない
08:24
Thankfully, I was able to answer A,
ありがたいことに私は「A」だったので
08:26
and I say that honestly in case my life insurance agent is listening.
正直にそのまま答えました
08:28
But what would have happened if I had said C?
でももし「C」だったらどうなっていたか?
08:31
Consumer applications for genomics, they will flourish.
一般向けのゲノム活用が広まるでしょう
08:34
Do you want to see whether you're genetically compatible
遺伝子的に恋人と相性が良いかどうか
08:36
with your girlfriend? Sure.
知りたいですよね?
08:38
DNA sequencing on your iPhone? There's an app for that.
iPhoneで遺伝子解析?アプリにおまかせです
08:40
(Laughter)
(笑)
08:43
Personalized genomic massage anyone?
ゲノムでカスタマイズされたマッサージはいかが?
08:45
There's already a lab today
既に ある研究所では
08:48
that tests for allele 334 of the AVPR1 gene,
俗に言う浮気遺伝子のAVPR1の
08:50
the so-called cheating gene.
対立遺伝子を検査しています
08:52
So anybody who's here today with your significant other,
今日カップルで来ている方は
08:54
just turn over to them and swab their mouth,
相手の口腔に入れた綿棒を
08:58
send it to the lab and you'll know for sure.
ラボに送れば確信できます
09:00
(Laughter)
(笑)
09:02
Do you really want to elect a president
心筋症を示唆するゲノムを持つ
09:04
whose genome suggests cardiomyopathy?
大統領を選びたいと思いますか?
09:06
Now think of it, it's 2016
2016年の大統領選で
09:08
and the leading candidate releases
候補者が
09:10
not only her four years of back tax returns,
4年分の納税申告書だけでなく
09:11
but also her personal genome.
自分のゲノムも公表したとします
09:13
And it looks really good.
これが非常に望ましいゲノムで
09:15
And then she challenges all of her competitors to do the same.
他の候補者にも公表を迫ったとしたら?
09:17
Do you think that's not going to happen?
そんなことは起こらないと思いますか?
09:19
Do you think it would have helped John McCain?
マケインの時にこれがあったら?
09:21
(Laughter)
(笑)
09:23
How many people in the audience
皆さんの中で 私と同じレズニックという
09:25
have the last name Resnick like me? Raise your hand.
名字の方がいたら 手を挙げて下さい
09:27
Anybody? Nobody.
誰もいませんか?
09:29
Typically, there's one or two.
普通1~2人はいるのですが
09:31
So my father's father was one of 10 Resnick brothers.
私の祖父は10人兄弟で
09:33
They all hated each other.
お互い嫌い合っていて
09:35
And they all moved to different parts of the planet.
世界中別の地域に移住したので
09:37
So it's likely
私は他のレズニックさんたちと
09:39
that I'm related to every Resnick that I ever meet, but I don't know.
血縁がある可能性が高いのではと思います
09:41
But imagine if my genome were deidentified, sitting in software,
私のゲノムが匿名でソフトに入力され
09:44
and a third cousin's genome was also sitting there,
ある従兄弟のゲノムもそこにあれば
09:47
and there was software that could compare these two
その二つを比べて関連づけることが
09:49
and make these associations.
できるかもしれません
09:51
Not hard to imagine. My company has software that does this right now.
難しくありません 現にそのソフトは私の会社にあります
09:53
And so imagine one more thing:
更にもう一つ想像してみて下さい
09:56
that that software is able to ask both parties for mutual consents,
ソフトが「遠縁の従兄弟と会ってみませんか?」と
09:58
"Would you be willing to meet your third cousin?"
互いの同意を得ることができたら?
10:01
And if we both say yes,
両者が「はい」と言えば
10:03
voila! Welcome to chromosomally LinkedIn.
染色体版リンクトインの出来上がりです
10:05
(Laughter)
(笑)
10:07
Now this is probably a good thing, right?
これは多分良いことですよね?
10:11
You have bigger clan gatherings and so on.
一族とのつながりが広まります
10:13
But maybe it's a bad thing as well.
でもこれは悪いことでもあります
10:15
How many fathers in the room? Raise your hands.
父親の方は手を挙げて下さい
10:17
Okay, so experts think that one to three percent of you
専門家によれば あなた方の1~3%は
10:19
are not actually the father of your child.
子どもの真の父親ではありません
10:22
(Laughter)
(笑)
10:24
Look --
見て下さい -
10:26
(Laughter)
(笑)
10:28
These genomes, these 23 chromosomes,
これらのゲノム 23対の染色体は
10:32
they don't in any way represent the quality of our relationships
少なくとも今のところ人間関係の質や社会の本質を
10:35
or the nature of our society -- at least not yet.
表すものではありません
10:38
And like any new technology,
どのような新技術でも
10:40
it's really in humanity's hands
人類のため役立てるかどうかは
10:42
to wield it for the betterment of mankind, or not.
全て私たち次第なのです
10:44
And so I urge you all to wake up and to tune in
だから皆さんには 今起きているゲノム革命のことを知り
10:47
and to influence the genomic revolution that's happening all around you.
良い方向へ影響づけてほしいのです
10:50
Thank you.
ありがとう
10:53
(Applause)
(拍手)
10:55
Translated by Wataru Narita
Reviewed by Sawa Horibe

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About the speaker:

Richard Resnick - Entrepreneur
Richard 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.

More profile about the speaker
Richard Resnick | Speaker | TED.com