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