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James Wyngaarden: Thank you for coming. Welcome to the NIH.
We've convened this meeting to announce the appointment of Dr. James Watson as the associate
director for Human Genome Research of the National Institutes of Health.
James Watson: I really want to express my thanks to Jim
Wyngaarden for this sort of vote of faith in me that I'm the person to sort of coordinate
NIH's efforts and to understanding the human genome. It's a goal which I simply didn't
have when we found the structure of DNA in 1953. That was -- any thought about knowing
the sequence of a small piece of DNA had to seem like science fiction.
Francis Collins: Watson brought instant credibility. He was
the best-known biologist, probably the best-known scientist in the world. For him to walk into
a congressman's office and say, "We need to start this enterprise because it's going to
change everything, and will ultimately benefit human health," he got instant ability to be
heard.
James Watson: The reason why I'm so excited by really finding
out what our DNA messages are, I think it's really two reasons. One, just a very practical
one. I think when we find out these messages, we will understand at a very deep level some
diseases now which effectively totally baffle us and sometimes almost destroy us.
Francis Collins: As a physician, it is the medical implications
of the Genome Project that have always seemed to me the most compelling. The reason to do
this, the chance to alleviate suffering, to cure diseases that we currently have little
to offer for, that's why we're doing this, and that's the reason that Congress wanted
to pay for it.
James Watson: The other reason is, as a scientist, DNA is
really the message of life.
Francis Collins: When the Genome Project started, sequencing
1,000 base pairs would cost you $10,000, and would take you the better part of a week if
you were going to do it at the high accuracy, even if you knew what you were doing, and
this crazy band of genome enthusiasts were out there saying, "We're going to do 2 billion
of these, and we're going to do it for less than 10-fold that cost, and it's going to
be highly accurate, and it's all going to get done in 15 years." It was a bold, even
fool-hardy approach, I think some might say.
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James Watson: Yeah, there were a lot of very admirable people,
and I think that's what made -- you know, the project could work because the people
on the whole were not driven by their egos; they were driven by the desire to get the
project done.
Francis Collins: The International Genome Sequencing Consortium,
the 16 centers in six countries, have really learned how to do this awfully well, and we're
cranking out 1,000 base pairs ever second, seven days a week, 24 hours a day. It was
roaring into the databases, and you could see the trajectory, and you could see that
we would get to that 90 percent point sometime around June.
President Bill Clinton: Today, the world is joining us here in the
East Room to behold a map of even greater significance. We are here to celebrate the
completion of the first survey of the entire human genome. Without a doubt, this is the
most important, most wondrous map ever produced by humankind.
Francis Collins: We now have, with the human genome, the most
quantitative imaginable representation of our own digital script. It's there.
Eric Green: The Genome Project, of course, just ordered
the letters but didn't tell us what their meaning was, and while we knew some things
about how it was that DNA encoded function, we certainly didn't have a comprehensive view
of that landscape.
Francis Collins: You know, before 2003, we could all talk about
what we thought the genome was all about and which parts of it were doing what. We didn't
really know, so depending on whose vision you were referring to, you might be close
to what turns out to be the case or way off [laughs], because everybody was guessing.
But now we don't have to guess anymore.
Eric Green: I think one of the surprises that really emerged,
you know, almost shortly after the Genome Project ended, was the realization of there's
probably more functional sequences outside of coding regions that are actually are protein-coding
regions.
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Just go back 10 years, just had generated that first sequence of the human genome, and
the active sequencing part took about six to eight years, consumed about $1 billion.
That was about the cost for the actual active organizing for sequence, actually doing the
sequencing. You know, 10 years ago when the Genome Project ended, if those same groups
immediately would have produced a second sequence of the human genome, hypothetically, they
estimated it would probably take them maybe three to five months to do instead of six
to eight years, but it would still cost about $10 million to $15 million. But now fast forward
10 years, after these spectacular new technologies have been developed, and we're well under
$10,000; in fact, the current estimates for getting a sequence of the human genome, something
on the order of $3,000, $4,000, $5,000 en route to $1,000, I think, within a year or
two. And remarkably, you could do it today in a couple of days, and probably by the end
of this calendar year, I'm being told, probably within a day.
James Watson: When they first talked about the $1,000 genome,
I thought, why, I'll never see that. But now they're talking about the $500 genome. [laughs]
Francis Collins: If the sequencing costs continue to drop,
and I'm sure they will, and if third-party payers decide that this is useful enough that
the cost is worth it to justify reimbursement, then I would see the opportunity for each
of us having our constitutional genome determined as part of our medical care in a five-year
period from now. With the opportunity, therefore, to use that both for prediction of future
illness, even though that will still be a statistical statement and not as strong as
some people might think, but also the pharmacogenomic part of that, which is enormously helpful.
Eric Green: When the Genome Project began, we knew the
genetic basis of maybe on the order of 60 diseases that were causes by defects in a
single gene. The Genome Project accelerated the pace at which we were able to discover
those genes and those mutations, so that by the time the Genome Project ended, that number
was about 2,200. Over the last 10 years, it's been more than doubled. We're almost up to
5,000 disorders that we now know the genetic basis.
Francis Collins: A big challenge for the next few years, and
I hope it's very few, is to figure out how to do that translation of what's currently
a research enterprise as standard of care. I think we'll get there.
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