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Kevin Davies: Thank you very much, Mark. Good afternoon,
everybody. Welcome back. I'm Kevin Davies, the author of a few books over the last 10
or 15 years that have commented on progress in genetics and genomics, and hopefully advances
that -- of this new technology and next-generation sequencing technology that we hope will drive
medicine. We've heard from a fantastic range of world-class scientists and scholars today,
and you'll hear from them more later this afternoon. I'm the black sheep of the program;
I think my greatest contribution to biomedical research was hanging up my lab coat about
20-something years ago, and realizing that the only way I would see my name in the likes
of Nature Magazine is if I snuck in through the back door and joined the editorial staff.
So that's what I did, and had the pleasure in 1992 to be the founding editor of the first
Nature spin-off journal. And we chose Genetics largely because we were so inspired and so
excited by the launch a couple of years earlier of the Human Genome Project.
And you see in the figure in the photograph shown here that the very first article in
Nature -- the first issue of Nature Genetics rolling off the presses, literally. And that
was the easiest decision I ever had to make, which was to invite Francis Collins to write
news and views on advances in positional cloning, a technique that not -- he not only established,
but then, of course, put to fantastic use with the discovery of the genes for cystic
fibrosis and a number of other medically-relevant important genes besides. And then a year later,
shown in this other photograph, he was one of the speakers at our first birthday conference
here in Washington, D.C., and this was, I think, the first public admission to confirm
the rumors that were going around that Francis was indeed going to leave his nicely-compensated
perch at the -- as a Howard Hughes Investigator at Michigan for a lower-paid administrative
job at the National Institutes of Health, the new genome center. And I think we're all
very grateful that he made that call.
In addition -- I'm sorry he's not here to hear this in person, but word will get back,
I daresay. In addition to being a world-class scientist, and physician, and administrator,
he's also, much to my chagrin, a very good author, a very successful author. He published,
of course, a best-seller called "The Language of God." He followed that with a book called
"The Language of Life." And I can now reveal the third leg of the trilogy, the "The Language
of Love" is --
[laughter]
-- will be coming out soon. I hear the CD that will accompany the book is going to be
fantastic. I think Francis is away laying down some tracks right now. I would have gone
with "46 Shades of Grey," but maybe that's just me.
[laughter]
A couple of years ago, I got a call from an agent in L.A. asking whether the rights to
my book that I wrote many years ago now about the genome project called "Cracking the Genome"
-- whether the rights -- the movie rights were available. And I said, "No." I got really
excited. And then the trail went cold, sadly, and the rights are still available if anybody's
watching.
But it's a fun game to play, and you can play it this evening as you're celebrating DNA
Day. Who would you cast to play Francis, and Craig, and the other key figures in the story?
I spent way too much time worrying -- thinking about that, and decided to leave it. But I
do want to give a quick plug, as I served a tiny role as a consultant on a new film
that's just doing the rounds. A very -- and I think this is important to try to get out
to a much broader community -- the importance of scientific medical genetic research and
the implications, specifically for women with breast cancer. Helen Hunt, fresh off her Oscar-nominated
role as a *** surrogate in "The Sessions," turned to playing Mary-Claire King, the brilliant
geneticist who mapped the BRCA1 gene in 1990. And this is the story of Annie Parker, a true
story of a woman who was one of the first women in North America to be tested for the
BRCA1 gene. And it's now doing a -- getting shown at different film festivals in the hopes
of wide release later, and I hope that perhaps maybe even people here in the audience are
watching who may be able to support one of these early screenings to support the film,
and also to support cancer research and screening.
So I'm not going spend too much time rehashing the key events of the Human Genome Project.
We've heard a little bit about this already, of course: the celebration in June of 2000
in the White House with my man, Tony Blair, beaming in via satellite from Downing Street,
because the Brits, of course, did about one-third of the genome. The papers appeared about nine
months later. Only one of these papers was republished as a coffee table book, brilliantly
edited by my friends and fellow Genetics editor, Carina Dennis. And -- yeah, we could spend
a lot of time -- and perhaps this isn't quite the right place to rehash the friction, and
there was a book that came out a few years later called "The Genome Wars." Obviously,
if you scratch the surface from some of the participants, it doesn't take much to still
rekindle old rivalries, shall we say?
Tim Hubbard, here, from the International Genome Consortium, making a point -- a very
important point that the data is now open, and I think few would disagree with his assessment
that the public project "won," in quotation marks. But if you put a microphone under Craig
Venter's nose, it's a -- you're going to get a very predictable and very strong-minded
response. And I think it's important to say and acknowledge that if it wasn't for what
Craig and Celera did all those years ago, we probably wouldn't be here today celebrating
the 10th anniversary; I suspect that would be a few years down the road. The press release
you've already seen -- I get a kick out of this because it was just one line in a press
release announcing the completion of the Human Genome Project -- okay, I guess there was
a press conference and a party afterwards -- and I think this is where George Bush got
the idea, because it was two weeks after that press conference that he was on the aircraft
carrier with the mission accomplished banner unfurled.
Why that date? Because it was the 50th anniversary of the publication of the double helix in
Nature, of course, but an even more remarkable -- almost more remarkable publication was
a few weeks earlier. You're a 12-year-old boy at boarding school in England somewhere,
and you get a letter from your dad, and it's this, it's -- your dad is Francis Crick, and
he's describing to you that Jim Watson and I have built a model for deoxyribonucleic
acid called -- "Read it carefully," he says to his 12-year-old son. And then, on the next
page, he actually draws a model, the first rendering of the double helix. It was a good
job that it was his wife who drew the picture in the actual Nature paper. He entered -- he
calls it a long chain with flat bits sticking out. He ended the letter, signed it, "Lots
of love, Daddy," which is very cute. This letter just went on the auction block and
sold for $5.3 million. About half of the proceeds went to the Salk internship, where, of course,
Francis Crick spent many happy years late in life.
It was six weeks after the Nature paper before the New York Times got wind of it and saw
fit to print the news. I love the -- sort of the very appropriately kind of sort of
conservative, "We need further studies. We need to confirm this to make sure it's right,"
although, as people have noted this morning on Twitter, that -- the double helix paper
flew into Nature without peer review because it was so obviously correct.
We aren't getting our genomes off encyclopedias and servers and tablets these days, but a
group in Leicester decided, "You know, there's no substitute for a good, old-fashioned book,
is there?" So they've actually printed the entire human genome, you know, to see what
it looks like, and for educational purposes. And so there you have it. It's 130 volumes,
tiny four-point font, double-sided, and it's been shown in museums and things, and this
is obviously a day where we're stressing DNA education, so I think I give them credit for
this. He would not tell me exactly how much it costs to print this, because he hoped -- he
thought he might want to negotiate with the publishers and print another version down
the road. But I will tell you that it actually costs less to sequence the human genome these
days than it does to print it, at least in the U.K.
So who is this reference genome that we are talking about and celebrating? Well, this
is the advertisement that Peter DeYoung shared with me kindly that recruited the volunteers
to build the DNA libraries in the late 1990s that have been used for sequencing. Peter
DeYoung, to borrow the vernacular of a popular television show, he was the master -- he was
the cook. He was the guy -- the Walter White of genomics who could build better DNA libraries
than anybody else. And so the advertisement appeared in a Buffalo newspaper, which is
good, except it sort of -- I worry that, you know, the reference genome probably belongs
to somebody like this. But I'll point out to one in particular individual in the front
row there, because we now know that RP11, which is the individual who contributes about
-- at least 70 percent of the human genome reference sequence from the work of David
Reich, and Stephan Schuster, and others, is almost certainly African-American, which was
something I didn't know, but that's been buried in the literature for a few years, I think
appropriate, given some of the talks that we heard this morning.
So work on the reference genome -- the reason I thought it was mission accomplished a little
bit is that work continues. There are still some regions that are very hard to sequence.
There are regions that very astonishingly -- more than we expected in different people.
And people here at NIH, at the Genome Reference Consortium, particularly Deanna Church, have
been coordinating continuing efforts to fill in the gaps. There are still medically-relevant
genes that are missing in some of these assemblies that need to be sorted out, and if you look
at the URL bottom right here, that's an interview that we just posted this week with Deanna
Church, which tells you, I think, almost everything you need to know about the past, present,
and future of the reference genome, and I urge you to look at that interview.
Despite all the work on the reference genome, and ENCODE, and 1,000 Genomes, and all that
great stuff, I still think the best genetic -- well, chromosome map that we've had ever
is the map of the Y chromosome that came not from massive high-throughput sequencing, but
from the fertile imagination of a female geneticist named Jane Gitschier, who -- Science Magazine
first posted this 20 years ago, because they saw it -- a photocopy stuck on Francis Collins's
door shortly after he arrived, and I -- you'll see -- although many of these are thought
to be somewhat fictitious, there are two loci that are real: the one at the top, which is
obvious, but there's a hearing loss locus that Chris Tyler-Smith and others, believe
it or not, have actually discovered somewhere further down the chromosome.
So what is the public making of the genome project? Well, Popular Science -- at least
we know what the readers of Popular Science Magazine think of it; they thought it was
great. Indeed, they awarded it in a survey last year the most important invention of
the past 25 years, beating out a whole slew of things, from Google Maps, to seedless watermelons,
to Wi-Fi, ***; and I really couldn't disagree with any of those. I think the Burj Khalifa
was a little hard done by, but that -- maybe that's just me.
What about the economic impact of this? Well, I think, as you've heard from -- President
Obama put this survey, which had been somewhat ignored, front and center in his State of
the Union Speech, a survey from an organization called Battelle. It was funded, I believe,
by the Life Technologies Foundation, in which this remarkable figure, which has come into
some -- a fair bit of scrutiny since the report was publicized by President Obama, that for
every dollar spent on the Human Genome Project -- and that's with a very lofty denominator
of $3.8 billion -- we've contributed -- we've received back $141 for every dollar spent.
That study may need some peer review, I suspect, but I think we can all agree that there have
been some many tremendous benefits, and those benefits have come largely, as Eric mentioned
in his opening remarks, from the technologies that have been -- that have culminated over
the last decade in search of a sequencing technology that would succeed Sanger sequencing;
the brilliant, venerable technology that soars right the way through the Genome Project,
and still has important roles in forensics, and clinical validation, and other arenas.
And I give Craig credit again for, if not inventing the term "$1,000 genome," at least
really putting it out there in a symposium that he organized in Boston in 2002. We reported
it, as did New Scientist and other media. And he invited six young scientific entrepreneurs
to show off their next-generation sequencing technologies, and said, you know, we need
this so bad. I don't think people realize how badly we need to kick on, and -- because
one genome's not going to do us any good. We're going to need hundreds, thousands, millions.
It was a fascinating evening, and I suspect that the one talk that actually didn't stand
out in my mind that evening amidst U.S. Genomics, and George Church, and others, was from a
young British company called Solexa. The two founders of Solexa are professors of chemistry
at Cambridge University, Shankar Balasubramanian, and David Klenerman, having a celebratory
pint in the Panton Arms. And I asked Shankar when I interviewed him for my book, "The $1,000
Genome," why didn't you go to The Eagle? That's -- surely that's got to be the pub in Cambridge
that you go to for momentous landmark occasions in genomics. And he looked at me and sneered,
and said, "No, no, no. That's the biologists' pub. This is the chemists' pub. This is where
the real serious drinking gets done."
[laughter]
Although, I should add, they have a no-drinking policy if you're going back to the lab in
the afternoon to do experiments.
The reason for the celebration is that this -- it was at a group meeting in the late 1990s
that the sort of the technology that would become Solexa, that would eventually become
Illumina Sequencing Platform, was hatched. They had to go to the pub, Shankar swears,
because the offices and the seminar rooms were so small, and cramped, and decrepit at
Cambridge University's Chemistry Department that they literally had no excuse but to -- no
other option but to go to the pub. The -- we won't belabor the technology: obviously, colored
fluorescent dyes, each tagging a specific nucleotide, and Solexa's goal wasn't the $1,000
genome, or personalized medicine, it was really to study the physics of DNA sequencing. It
was to engineer a sort of a stop-start approach that you could how one base is incorporated
at a time, and do it in -- across millions of molecules. So the weeds were very short
to start, but the technology continued and grew.
And in 2005, Clive Brown, who was head of IT and informatics at Solexa, sent an email
to the Brain Trust announcing that they'd done it, sequenced the first genome; of course,
a very small genome, but nevertheless, an important landmark at the time. Now, most
people in that situation -- and you've got -- you've invented a new sequencing technology,
what would you do? You would downsource [spelled phonetically] -- well, you go to the pub first,
if you're British, and then you downsource, and then you write a paper for Nature, or
something. And Solexa said, "No, no, we don't care about that. We don't care about publishing
papers. We're tunnel-focused on one goal, which is to get this machine optimized, and
get it out and launched commercially." By this point, they'd merged with an American
company -- a Sydney Brenner company called Lynx. They had a NASDAQ listing. And so they're
on their way, but in a very stealthy manner.
And so a few months later, when 454 burst out onto the public scene, everyone thought,
including the founder of 454, Jonathan Rothberg, that they'd won. They'd certainly won the
race to get the first commercial next-gen sequencer out, and because there was -- Britain
was quiet, I think he thought that success would be longer lived than it actually was.
That was the paper in Nature in the summer of 2005. "We won the race," Jonathan told
me that the eve of that publication. "Everyone may not be happy with that, but we are." Of
course they were. Rothberg is the most colorful character in my book. It's not every day that
you meet somebody who has built -- we're not talking Spinal Tap Stonehenge here; we're
talking a real monument of Stonehenge proportions, 700 tons of Norwegian granite shipped across
the Atlantic for exactly what purposes, I'm not entirely sure. His wife said she just
wanted to put a soccer pitch in the back yard, and Jonathan had other ideas.
When it came to sequencing their first human genome, Rothberg was talked out of sequencing
himself by some of his advisors, including Richard Gibbs from Baylor, and they opted
for a more logical and -- guinea pig, and that was, of course, Jim Watson. And in May
of 2007, the first digital genome by next-gen sequencing was presented to Jim in a ceremony
at Baylor College of Medicine because it was Gibbs, and David Wheeler, and colleagues that
were doing the informatic analysis. The cost of that sequencing program, Project Jim, as
it was code-named, about a million dollars. It left about -- not much in the budget for
gift-wrap, but you see a little bit of that.
So what did Watson learn from his genome? In truth, not a lot, and I think for most
people who've embarked on this -- if you've looked at a 23andMe scan or something, that's
probably the reason you think, "Well, really? That's all I got?" We still have a long way
to go in terms of linking genetic variants with common disease traits.
He did learn something of pharmacogenetic benefits; he adjusted the dose of his blood
pressure medication. He learned about the importance of false positives. For a while
he thought he had a BRCA1 mutation that might be of importance for some of his female relatives
until Mary-Claire King advised him it was nothing more than a benign Irish polymorphism.
But I think that what stood out was that in his desire and willingness to share his entire
public -- his entire genome publicly, posted on his Cold Spring Harbor website, there's
one gene he wanted left off the list, and that was the APOE gene, which in a -- in the
E4 variants, which can be found in two copies in a small percentage of the population, can
infer a pretty strong -- an increased risk of Alzheimer's Disease, and Jim just didn't
want to know what his genotype there was. So that was all well and good. That gene was
left off until the site went live, and a couple of groups, including Mike Cariaso at SNPedia
noticed very quickly that you could infer the APOE genotype by the gene's flanking that
gene. So the Cold Stone Harbor guys quickly had to go back to the servers and wipe out
or redact about a million bases so that -- to my knowledge, the world is supremely unaware
of Watson's APOE genotype.
So 454 was dominating the headlines for a while, and then in November of 2008, an issue
of Nature appeared. I remember the days when we were ***-a-hoop if we published three
papers describing disease genes in a journal, and here, now, we had three human genomes;
each paper very significant in its own right. You had the first major genome paper from
BGI, which put them really on the map, the Beijing Genomics Institute. You had the first
cancer genome from Elaine Mardis and Rick Wilson, colleagues at Washington University.
And you also had the guys from Solexa publishing their paper. So, they finally got their Nature
Paper, three and a half, maybe four years after that PhiX174 landmark, except by now
they -- Solexa's sequencing machines now had the Illumina logo on the box because Illumina
had swooped in and bought them for about $650 million, and boy, wasn't that a bargain.
The first woman sequenced was a Dutch clinical geneticist named Marjolein Kriek, chosen because
her last name sounds like Crick. It was really that simple. And she has enjoyed her 15 minutes
of fame even though the paper has still not been published. She's had statues, she's had
art exhibits, and commemorated -- and I think this is the Dutch equivalent of Doonesbury,
which I will not attempt to pronounce. But you can see, even her comrades were somewhat
bemused that one of their compatriots had been selected for this great honor. And at
ICHG some 18 months ago, Kriek finally met Watson. So that was nice.
At this point, there was sort of a rush of sort of celeb -- a lot of news stories about,
"Oh my God, celebrity genomes. Only the wealthy and the famous are going to get their genome
sequenced," and that quickly dissipated.
John West, shown here, was the guy who engineered the sale of Solexa to Illumina. He must have
done quite well from that transaction because he decided a little later to have his entire
family of four sequenced using Illumina's new personal genome sequencing service. And
his daughter has been giving some fabulous talks and had articles in Wall Street Journal
describing her experiences trying to sort out her genome using little more than an Excel
spreadsheet. And if you've never seen a prescription for a human genome sequence, may I present
to you blood and saliva for personal genome sequencing by Illumina from 2009. Illumina,
I think sensibly at the time, deciding that you would need a doctor's note in order to
get your genome sequenced.
Now, why do they do that? Because there's an increasing scrutiny and concern in some
quarters that the direct-to-consumer genomics companies offering genotyping to the public
were giving people more information than they could handle. Of course, there were several
companies back when this started in 2007-2008 -- 23andMe got most of the press because of
the Google connection. Anne Wojcicki is, of course, married to Sergey Brin. They won Time
Magazine's Invention of the Year, which caused a volcanic eruption in Iceland in one particular
location, because deCODE had really pushed this very heavily, and they had another -- a
new term into the lexicon: the spit party, found in various glamorous locations like
Davos, Switzerland, and New York. Although, as 23andMe were not the first to learn, that
you cannot hold spit parties in New York because of very strict medical laws, and as the health
tsar in New York State reminded them, "You should go have your spit parties in Connecticut.
It's not that far. You're not allowed to ship samples out of state without a doctor's note."
For people like -- doing a spit test is pretty tricky. It's not as easy as it sounds. If
you're from where I come from, you just say [speaks Welsh], and you'll be good to go.
So -- that was my mum.
I think 23andMe -- this is not just about giving individuals' information that they
can choose to do whatever they wish with. They now have a database of 250,000 genotyped
individuals pushing towards a million later this year. And papers such as this one are,
I think, exciting demonstrations of sort of in silico genome-wide association studies,
finding and identifying important loci, not just for things, like, you know, whether you're
allergic to cilantro or whether you have upper back hair, but important disease traits like
Parkinson's disease. And how -- whether they are able to sustain a business model, of course,
is another question for another time.
As I mentioned, I think the concern about the Worried Well is something that you've
heard a lot about from editors of The New England Journal of Medicine, to The American
Medical Association, which pleaded with the FDA to sort of clamp down on this industry
because people couldn't handle the genomic information they might receive. I see no such
evidence for concern. I see no Dateline specials with thousands of 23andMe customers confessing
to some journalists that they weren't able to handle their information. And the empirical
data that's been published from Robert Green in the REVEAL study, and more recently from
Cinnamon Bloss at the Scripps Genetic Health Initiative just published in the Journal of
Medical Genetics, provides some very solid evidence that people are very able, at a psychological
level, to handle this sort of information.
But the reason I think most people are trying to push genome sequencing is for medical benefit.
Levi, later this afternoon, will talk about cancer. I'd love to talk about that, but in
the interest of time, I'm just going to focus on this notion of ending diagnostic, is obviously
a term that you heard this morning, but you haven't seen -- I'm surprised, you've not
yet seen a picture of this child Nicholas Volker, who, in many ways, has become kind
of the poster child for what exome and whole-genome sequencing can mean for a patient suffering
almost indescribable torment, medical procedures by the scores, gene tests ad nauseum, to try
to get to the root of a particular genetic disorder.
In 2009, Nicholas's pediatric gastroenterologist emailed Howard Jacobs, shown here, really
as a last -- the last straw, as a -- to ask whether we could sequence -- whether they
could sequence the genome of Nicholas. This has all been published not only in peer-review
literature but in this Pulitzer Prize winning series of stories in the Milwaukee Journal
Sentinel, which I refer you to. And I think the story's fairly well-known now. They did
exome sequencing. They had a list of 2,000 candidate genes. They found nothing of note
in those, but they found a very intriguing point mutation in -- on the X chromosome,
and that led to a specific diagnosis that prompted a bone marrow transfer, and they
finally had something to put in the medical record. And the results in a further newspaper
series from last year is that Nicholas is now not only home and eating solid food, but
back at school and trick-or-treating. And it is a -- it's a story that -- whenever you
meet any of the team from Medical College of Wisconsin, you know how much that means
to them.
But they didn't just stop there. What was impressive is that they said, "That's great,
but we're going to continue to do this." So they now have a system in place; they review
cases on a monthly basis, and exome and whole-genome sequencing now continues for many patients,
weighing the benefits of a whole-genome sequencing approach to try to find the diseased gene
in question versus traditional sort of trial and error, "Let's do this gene," or, "Let's
do this gene panel," and racking up the costs. And Nicholas's medical care was put at over
a million dollars.
And many academic centers are now following the same path. Baylor College of Medicine
is one I will mention. Jim Lupski, giving a DNA Day talk recently this month, mentioned
that Baylor College of Medicine is now doing something like 200 clinical exome sequences
a month. So, they -- this is not just sort of esoteric anecdotal medicine; this is rapidly
becoming, in some quarters at least, a sort of a mainstream endeavor. And I could give
many examples from -- I'll just show, I think, three. This child was diagnosed as a result
of the CLARITY Challenge that Boston Children's Hospital organized, ending an 11-year diagnostic
odyssey. This is a story that my colleague, Allison Proffitt, broke in Bio-IT World. The
URL is in the lower right.
The Allingham family from Sacramento ending a three- or four-year diagnostic odyssey in
two of their children with a rare form of Batten disease; there are clinical trials
doing enzyme replacement and gene therapy that they may be eligible for. And Jeffrey
Trent, formally of this parish, of course, now at TGen, has a remarkable YouTube video
on the case of a charming, vivacious young girl named Shelby Valint who is now up, and
walking, and healthy, thanks to the genome sequencing results.
The costs; we've talked a little bit about the costs. We're not quite at the $1,000 genome,
even though people predicted that 2013 would be the year, not just of the $1,000 genome,
we had the 15-minute genome; we've had the $30 genome. One of the people predicting we'd
have the $1,000 genome any day is shown at the end here -- is Daniel Franklin, who happens
to be the nephew of Rosalind Franklin. I suppose we should -- we should -- not I suppose, I
know we should remember the contributions of Rosalind Franklin on a day like today.
What is the actual cost? I think Eric was pretty close in his introduction. So these
figures are from David Bentley, who's the chief science officer of Illumina. If you
do a batch run on the latest Illumina HiSeq 2,500, you can sequence five genomes simultaneously
in a run in this particular mode. The list price for the reagents is $25,000. So that's
$5,000 list for a human genome right now, but obviously you can get discounts, and -- those
were his words, not mine. So you can negotiate less than that. And the [unintelligible] slide
had the $2,500 genome. So I think that's sort of where we are. Now, okay, that's not including
informatics and all that sort of stuff, and we will come to that.
Where does next-gen sequencing go from here? Well, of course, there's a lot of hope for
new technologies, and I want to also remember the work that NHGRI, and Jeff Schloss and
Adam Felsenfeld have done to support the whole community, academic and start-ups alike, to
foster these new technologies.
One of the ones that shows the most promise is from Oxford Nanopore. This incredible device,
the MinION, is literally a DNA sequencer on a thumb drive. It was unveiled a year ago,
and this is the same guy, Clive Brown shown here, who sent that email during his Solexa
days. So you're not going to see a peer-review paper about this anytime soon. They're going
to follow the same model. How would that work when the last iteration that we heard, you
would take a bacterial nanopore, a bacterial enzyme with a hole in the middle; you would
attach a DNA helicase, something that can unzip DNA; a single strand will go through,
and then this will make me sound a lot smarter than I am, you run a hidden mark-off model
with a Viterbi algorithm, which is easier for me to say; and you can deduce the sequence
by measuring the incremental block or resistance of current as the DNA snakes through the pore.
If you engineer a hairpin loop at the end of a molecule, you can do one strand, and
then, brilliantly, you can do the other strand. They're a little behind schedule. That came
-- that was apparent from this year's AGBT, but companies like this, and Genia, suggest
that we're going to take the $2,500 genome, or wherever we are, and we're going to push
through and see some remarkable further breakthroughs. Of that, I have no doubt in the coming years.
So that leaves me in some -- just some closing remarks to talk about the other half of this,
and I think that one or two other speakers will have much more say on this, which is,
I love this quote from Bruce Korf, past president of the American College of Medical Genetics.
He says, "Okay, I buy it. You know, I was a skeptic before, but we're going to have
$1,000 genome. It's the $1 million interpretation that worries me." And that's not the cost
of doing a genome interpretation, per se, but it's the whole effort to integrate this
into health care. There's -- and we've talked -- we've heard little smatterings of this
earlier from educating physicians, the health IT infrastructure that's going to have to
be built to make this to work; regulation CPT codes, reimbursement, and so on. But insurance
is covering this. The Medical College of Wisconsin report that several insurers are reimbursing
their work, and Lupski says that at the Baylor College of Medicine, something like close
to 90 percent of their clinical exome cases are being reimbursed. There's a whole ecosystem
of fantastically high-thoroughbred start-ups trying to get into the genome interpretation
space, but some of this is already here.
So this is a sample from Foundation Medicine. Levi Garraway, you'll hear later, is a co-founder
of this company. This is how tumor biopsy DNA profiling data are being presented to
oncologists and physicians: a list of mutations in the tumor; a list of drugs that potentially
fit the profile -- fit the pathways that are disrupted in that patient's tumor; and the
clinical trials of that patient may be eligible for. I mean, we can debate whether we use
the term "personalized medicine" or "precision medicine," but we're starting to see real
exciting -- really exciting advances in that space. And it leads even very conservative
and respected medical geneticists to sort of drink the Kool-Aid and say, "It's -- we'll
be sequencing once and reading often. If the price gets cheap enough, we'll be sequencing
many, many times."
Closing sort of a -- just in -- where are they now? Just two slides to close. Earlier
this year, Shankar Balasubramanian in Cambridge made the press back in the U.K. for a discovery
that was published in Nature Chemistry, a new structure for DNA; a quadruplex molecule
found in cancer cells in certain environments. That could be very important for cancer research.
Also noteworthy, I think, is that he commissioned this painting which is hanging in his office.
I'm very pleased to see that he actually finally got a decent-sized office for his troubles.
And, of course, the irrepressible James Watson. I found this on Twitter, and I wasn't sure
whether to show it, but, you know, it's good to know that, you know, DNA Day celebrations
aren't just some tedious black tie, you know, celebrations in some crusty Cambridge college.
This was in New York just a couple of weeks ago. The person who posted this on Twitter
described his four companions as his four nucleotides. I have no idea what that means,
but I thought that was kind of cute.
[laughter]
So I want to wish Eric, and Francis, and everybody involved here at NHGRI a very happy DNA Day
anniversary, and I look forward to 10 more years. If they're half as successful as the
past 10, we're in for a treat. Thank you very much, indeed.