<p begin="00:00:00.00" end="00:00:11.32" style="1"> </p>
<p begin="00:00:11.32" end="00:00:12.80" style="1">ERIC GREEN: Good morning, everyone.</p>
<p begin="00:00:12.80" end="00:00:14.15" style="1">It's a pleasure to be here. </p>
<p begin="00:00:14.15" end="00:00:16.38" style="1">And I'm very excited about telling you</p>
<p begin="00:00:16.38" end="00:00:17.80" style="1">about the field of study that I've</p>
<p begin="00:00:17.80" end="00:00:20.05" style="1">been involved in for over 25 years,</p>
<p begin="00:00:20.05" end="00:00:22.94" style="1">since I graduated medical school in the late 1980s.</p>
<p begin="00:00:22.94" end="00:00:24.89" style="1">And that's the field of genomics.</p>
<p begin="00:00:24.89" end="00:00:25.98" style="1">What's a genome? </p>
<p begin="00:00:25.98" end="00:00:28.87" style="1">Well, a genome is basically a blueprint.</p>
<p begin="00:00:28.87" end="00:00:31.49" style="1">And everything needs a blueprint if you're going to make it.</p>
<p begin="00:00:31.49" end="00:00:34.09" style="1">If you're going to make a car, you need a blueprint.</p>
<p begin="00:00:34.09" end="00:00:35.98" style="1">If you're going to make a living system,</p>
<p begin="00:00:35.98" end="00:00:37.77" style="1">you use something what's called the genome.</p>
<p begin="00:00:37.77" end="00:00:40.93" style="1">Whether you're going to make this creature or you're</p>
<p begin="00:00:40.93" end="00:00:45.52" style="1">going to make a dog, a cat, a plant, a worm or any living</p>
<p begin="00:00:45.52" end="00:00:46.59" style="1">system. </p>
<p begin="00:00:46.59" end="00:00:48.78" style="1">So in thinking about genomics, just</p>
<p begin="00:00:48.78" end="00:00:52.11" style="1">to get you grounded in some basics,</p>
<p begin="00:00:52.11" end="00:00:54.63" style="1">the human body consists of about 10 trillion cells.</p>
<p begin="00:00:54.63" end="00:00:57.27" style="1">And it turns out that each different type of cell</p>
<p begin="00:00:57.27" end="00:00:59.98" style="1">is reading the same exact blueprint</p>
<p begin="00:00:59.98" end="00:01:01.60" style="1">but doing it for its own unique needs,</p>
<p begin="00:01:01.60" end="00:01:03.31" style="1">whether it's a brain cell or whether it's</p>
<p begin="00:01:03.31" end="00:01:06.08" style="1">a liver cell or a pancreatic cell or whatever.</p>
<p begin="00:01:06.08" end="00:01:08.49" style="1">That blueprint is housed in the middle part</p>
<p begin="00:01:08.49" end="00:01:10.27" style="1">of a cell called a nucleus. </p>
<p begin="00:01:10.27" end="00:01:11.83" style="1">And it's carried around from cell</p>
<p begin="00:01:11.83" end="00:01:14.69" style="1">to cell in a structure known as a chromosome.</p>
<p begin="00:01:14.69" end="00:01:17.27" style="1">And a chromosome, the important thing to recognize</p>
<p begin="00:01:17.27" end="00:01:20.86" style="1">is the molecule making up that blueprint is a molecule</p>
<p begin="00:01:20.86" end="00:01:23.35" style="1">that you've probably heard of called DNA.</p>
<p begin="00:01:23.35" end="00:01:25.44" style="1">Now, DNA actually is incredibly simple.</p>
<p begin="00:01:25.44" end="00:01:27.31" style="1">It only consists of four different chemicals.</p>
<p begin="00:01:27.31" end="00:01:29.44" style="1">And we don't even have to call them by their names.</p>
<p begin="00:01:29.44" end="00:01:32.58" style="1">We just abbreviate them A, T, G, and C.</p>
<p begin="00:01:32.58" end="00:01:34.95" style="1">And it turns out that all the information</p>
<p begin="00:01:34.95" end="00:01:37.79" style="1">in a blueprint for making a living organism</p>
<p begin="00:01:37.79" end="00:01:41.35" style="1">is encoded by the order of these letters, order</p>
<p begin="00:01:41.35" end="00:01:45.15" style="1">of these chemicals across large stretches of DNA.</p>
<p begin="00:01:45.15" end="00:01:48.33" style="1">Well, by the late 1980s, it was very clear</p>
<p begin="00:01:48.33" end="00:01:52.13" style="1">that we had the technologies in the laboratory available</p>
<p begin="00:01:52.13" end="00:01:55.58" style="1">that would allow us to read out all of the letters that make up</p>
<p begin="00:01:55.58" end="00:01:58.39" style="1">the human blueprint in our DNA, because it turns out</p>
<p begin="00:01:58.39" end="00:02:01.66" style="1">that the entire human genome only consists of 3 billion</p>
<p begin="00:02:01.66" end="00:02:02.71" style="1">of these letters. </p>
<p begin="00:02:02.71" end="00:02:05.64" style="1">But it's the order of these G's, A's, T's, and C's, 3 billion</p>
<p begin="00:02:05.64" end="00:02:09.56" style="1">of them, that encode all the information necessary for life.</p>
<p begin="00:02:09.56" end="00:02:11.86" style="1">And so in 1990, an audacious project</p>
<p begin="00:02:11.86" end="00:02:13.32" style="1">was started called the Human Genome</p>
<p begin="00:02:13.32" end="00:02:15.39" style="1">Project, a large international effort,</p>
<p begin="00:02:15.39" end="00:02:17.86" style="1">involving thousands of scientist around the world</p>
<p begin="00:02:17.86" end="00:02:19.84" style="1">and young scientists, such as me,</p>
<p begin="00:02:19.84" end="00:02:23.35" style="1">getting involved on day one of the project to basically read</p>
<p begin="00:02:23.35" end="00:02:27.13" style="1">out the 3 billion letters that make up the human blueprint.</p>
<p begin="00:02:27.13" end="00:02:30.10" style="1">This audacious project was completed ahead of schedule</p>
<p begin="00:02:30.10" end="00:02:31.60" style="1">just 13 years later. </p>
<p begin="00:02:31.60" end="00:02:35.50" style="1">In April, 2003, humankind celebrated the accomplishment</p>
<p begin="00:02:35.50" end="00:02:38.89" style="1">of having read out the human blueprint.</p>
<p begin="00:02:38.89" end="00:02:41.78" style="1">Later today, you're going to hear from an astronaut.</p>
<p begin="00:02:41.78" end="00:02:43.70" style="1">I would just tell you the Human Genome Project</p>
<p begin="00:02:43.70" end="00:02:47.25" style="1">was biomedical researcher's equivalent of the moon shot.</p>
<p begin="00:02:47.25" end="00:02:49.87" style="1">They said, put a man on the moon, and they were successful.</p>
<p begin="00:02:49.87" end="00:02:53.25" style="1">We said, let's read out our blueprint's sequence,</p>
<p begin="00:02:53.25" end="00:02:56.10" style="1">and we were successful in 2003. </p>
<p begin="00:02:56.10" end="00:02:58.27" style="1">What I want to tell you about now very briefly</p>
<p begin="00:02:58.27" end="00:03:00.85" style="1">is what's taken place in the last 10 years,</p>
<p begin="00:03:00.85" end="00:03:02.89" style="1">because when the Genome Project was completed,</p>
<p begin="00:03:02.89" end="00:03:04.98" style="1">this is what it produced. </p>
<p begin="00:03:04.98" end="00:03:08.49" style="1">Actually, this is only 0.001% of what it produced.</p>
<p begin="00:03:08.49" end="00:03:10.86" style="1">There was actually 3 billion letters of what we produced.</p>
<p begin="00:03:10.86" end="00:03:12.86" style="1">And it's the order of them that we finally</p>
<p begin="00:03:12.86" end="00:03:15.38" style="1">had in front of us for that interpreting</p>
<p begin="00:03:15.38" end="00:03:18.13" style="1">how it is that a human being becomes a human being</p>
<p begin="00:03:18.13" end="00:03:19.36" style="1">and operates as such. </p>
<p begin="00:03:19.36" end="00:03:20.82" style="1">So I'll tell you about three things</p>
<p begin="00:03:20.82" end="00:03:23.51" style="1">very quickly that's taken place over the last 10 years,</p>
<p begin="00:03:23.51" end="00:03:27.78" style="1">since that first time having read out our own blueprint.</p>
<p begin="00:03:27.78" end="00:03:30.25" style="1">Well, the first thing we did is we need to and continue</p>
<p begin="00:03:30.25" end="00:03:32.88" style="1">to need to understand how all this works.</p>
<p begin="00:03:32.88" end="00:03:34.40" style="1">How is it that these letters encode</p>
<p begin="00:03:34.40" end="00:03:37.83" style="1">the information necessary for human biology?</p>
<p begin="00:03:37.83" end="00:03:40.25" style="1">We've gotten very good at understanding this.</p>
<p begin="00:03:40.25" end="00:03:42.03" style="1">For example, we now can go through</p>
<p begin="00:03:42.03" end="00:03:44.92" style="1">and we can figure out exactly which of these letters</p>
<p begin="00:03:44.92" end="00:03:47.60" style="1">encodes for the building blocks in our cells</p>
<p begin="00:03:47.60" end="00:03:48.94" style="1">and tissues, proteins. </p>
<p begin="00:03:48.94" end="00:03:49.73" style="1">These are genes. </p>
<p begin="00:03:49.73" end="00:03:51.93" style="1">We now know we have about 20,000 genes.</p>
<p begin="00:03:51.93" end="00:03:53.99" style="1">There's about 20,000 parts that make up</p>
<p begin="00:03:53.99" end="00:03:55.94" style="1">the human body in each of our cells.</p>
<p begin="00:03:55.94" end="00:03:59.97" style="1">And we now know the code that is responsible for basically</p>
<p begin="00:03:59.97" end="00:04:02.94" style="1">telling cells how to make those building blocks.</p>
<p begin="00:04:02.94" end="00:04:05.47" style="1">But we've also learned an incredible amount</p>
<p begin="00:04:05.47" end="00:04:08.19" style="1">about a remarkable set of other sequences</p>
<p begin="00:04:08.19" end="00:04:10.65" style="1">that are circuits, that are control elements, that</p>
<p begin="00:04:10.65" end="00:04:13.64" style="1">are things like dimmer switches on a wall that determine where</p>
<p begin="00:04:13.64" end="00:04:16.03" style="1">and when different things are made.</p>
<p begin="00:04:16.03" end="00:04:17.91" style="1">Our brain cells do very different things</p>
<p begin="00:04:17.91" end="00:04:19.85" style="1">than our pancreatic cells, and we now</p>
<p begin="00:04:19.85" end="00:04:23.15" style="1">know there's a lot of hidden secrets in these sequences</p>
<p begin="00:04:23.15" end="00:04:24.90" style="1">that tell the different genes when they're</p>
<p begin="00:04:24.90" end="00:04:27.40" style="1">needed, when they're not needed, when they need to be turned</p>
<p begin="00:04:27.40" end="00:04:29.87" style="1">on in a large extent, to a small extent, and so forth.</p>
<p begin="00:04:29.87" end="00:04:31.89" style="1">And so that circuitry it turns out</p>
<p begin="00:04:31.89" end="00:04:36.16" style="1">is what's critically responsible for basically creating</p>
<p begin="00:04:36.16" end="00:04:38.25" style="1">each and every cell in its own unique way.</p>
<p begin="00:04:38.25" end="00:04:40.88" style="1">Now, I don't want to lead you to believe that we understand how</p>
<p begin="00:04:40.88" end="00:04:43.24" style="1">the human genome works 10 years after having read it out</p>
<p begin="00:04:43.24" end="00:04:44.52" style="1">for the first time. </p>
<p begin="00:04:44.52" end="00:04:46.00" style="1">In fact, if you ask me today, we've</p>
<p begin="00:04:46.00" end="00:04:49.40" style="1">made incredible accomplishments in the last 10 years.</p>
<p begin="00:04:49.40" end="00:04:51.61" style="1">But at best, we have a Cliff Notes view</p>
<p begin="00:04:51.61" end="00:04:53.88" style="1">of the human genome sequence today.</p>
<p begin="00:04:53.88" end="00:04:55.57" style="1">I always say, my children and I'm</p>
<p begin="00:04:55.57" end="00:04:58.04" style="1">sure my children's children will be interpreting,</p>
<p begin="00:04:58.04" end="00:04:59.92" style="1">reinterpreting, and still exploring</p>
<p begin="00:04:59.92" end="00:05:01.85" style="1">those 3 billion letters to figure out</p>
<p begin="00:05:01.85" end="00:05:03.04" style="1">all their intricacies. </p>
<p begin="00:05:03.04" end="00:05:06.26" style="1">It's a very exciting field that will continue to move forward.</p>
<p begin="00:05:06.26" end="00:05:08.85" style="1">So that was the first thing we've done the last 10 years.</p>
<p begin="00:05:08.85" end="00:05:11.32" style="1">The second thing that we've done in the last 10 years</p>
<p begin="00:05:11.32" end="00:05:16.07" style="1">is that we have been incredibly successful at reducing the cost</p>
<p begin="00:05:16.07" end="00:05:20.55" style="1">and speed of being able to read out a human being's blueprint.</p>
<p begin="00:05:20.55" end="00:05:22.56" style="1">For example, the day the Genome Project ended</p>
<p begin="00:05:22.56" end="00:05:26.21" style="1">about 10 years ago, we had read out the first sequence</p>
<p begin="00:05:26.21" end="00:05:29.36" style="1">of the human genome at a cost us something about a $1 billion.</p>
<p begin="00:05:29.36" end="00:05:32.98" style="1">It was a brilliant investment of spending $1 billion.</p>
<p begin="00:05:32.98" end="00:05:35.64" style="1">But nonetheless, that wasn't the kind of practical tool</p>
<p begin="00:05:35.64" end="00:05:38.55" style="1">that would allow us to sequence individual people's genomes</p>
<p begin="00:05:38.55" end="00:05:40.89" style="1">and eventually individual patient's genomes</p>
<p begin="00:05:40.89" end="00:05:42.52" style="1">as part of medical care. </p>
<p begin="00:05:42.52" end="00:05:45.48" style="1">And so we launched a major technology development program</p>
<p begin="00:05:45.48" end="00:05:48.92" style="1">that was aiming to basically develop new methods for reading</p>
<p begin="00:05:48.92" end="00:05:52.06" style="1">out DNA that would allow you to eventually read out</p>
<p begin="00:05:52.06" end="00:05:53.62" style="1">a human genome sequence for something</p>
<p begin="00:05:53.62" end="00:05:57.89" style="1">like $1,000, the cost of a very reasonable clinical test.</p>
<p begin="00:05:57.89" end="00:05:59.73" style="1">And the notion of the $1,000 genome</p>
<p begin="00:05:59.73" end="00:06:02.62" style="1">became a battle cry for the genomics community.</p>
<p begin="00:06:02.62" end="00:06:05.33" style="1">And what we wanted to do was to completely eliminate</p>
<p begin="00:06:05.33" end="00:06:08.41" style="1">the need for large factories, such as that shown here, that</p>
<p begin="00:06:08.41" end="00:06:10.90" style="1">were used for reading out that first human genome</p>
<p begin="00:06:10.90" end="00:06:13.46" style="1">sequence as part of the Human Genome Project</p>
<p begin="00:06:13.46" end="00:06:16.44" style="1">and replace it with some fancy new technology, something</p>
<p begin="00:06:16.44" end="00:06:18.41" style="1">really cool and small and disposable</p>
<p begin="00:06:18.41" end="00:06:21.19" style="1">that will allow you to very quickly and very cheaply</p>
<p begin="00:06:21.19" end="00:06:23.20" style="1">read out a human genome sequence.</p>
<p begin="00:06:23.20" end="00:06:25.40" style="1">In fact, I hold in my hand one of the cutting edge</p>
<p begin="00:06:25.40" end="00:06:26.96" style="1">technologies that's now used. </p>
<p begin="00:06:26.96" end="00:06:28.71" style="1">It just looks like a little computer chip.</p>
<p begin="00:06:28.71" end="00:06:30.78" style="1">And in fact, that's almost what it is.</p>
<p begin="00:06:30.78" end="00:06:33.75" style="1">And a technology such as this, which is now available just 10</p>
<p begin="00:06:33.75" end="00:06:38.12" style="1">years later, has revolutionized our ability to do genomics.</p>
<p begin="00:06:38.12" end="00:06:41.06" style="1">And it's revolutionized because of the cost of reading out</p>
<p begin="00:06:41.06" end="00:06:42.92" style="1">DNA sequence, but also the speed.</p>
<p begin="00:06:42.92" end="00:06:45.56" style="1">Let me give you some specific examples.</p>
<p begin="00:06:45.56" end="00:06:47.27" style="1">The day the Genome Project basically</p>
<p begin="00:06:47.27" end="00:06:49.87" style="1">started and then completed in 2003,</p>
<p begin="00:06:49.87" end="00:06:53.26" style="1">that first genome sequence, cost about $1 billion.</p>
<p begin="00:06:53.26" end="00:06:55.12" style="1">And thousands of researchers were</p>
<p begin="00:06:55.12" end="00:06:56.67" style="1">involved around the world doing it,</p>
<p begin="00:06:56.67" end="00:06:58.69" style="1">and it took them six to eight years to complete.</p>
<p begin="00:06:58.69" end="00:07:02.21" style="1">But the day the Genome Project ended in 2003,</p>
<p begin="00:07:02.21" end="00:07:04.03" style="1">we figured out that if we went to sequence</p>
<p begin="00:07:04.03" end="00:07:07.02" style="1">a second human genome, it would only cost about $10 to $50</p>
<p begin="00:07:07.02" end="00:07:10.06" style="1">million, and it would still take three to four months--</p>
<p begin="00:07:10.06" end="00:07:13.05" style="1">significant accomplishment, but not quite a clinical test,</p>
<p begin="00:07:13.05" end="00:07:14.03" style="1">for example. </p>
<p begin="00:07:14.03" end="00:07:16.52" style="1">Today, literally today, using the kind of chip</p>
<p begin="00:07:16.52" end="00:07:19.98" style="1">I just showed you, we can sequence a human genome</p>
<p begin="00:07:19.98" end="00:07:22.26" style="1">for something like $4,000 to $6,000.</p>
<p begin="00:07:22.26" end="00:07:24.07" style="1">We're getting closer and closer to $1,000.</p>
<p begin="00:07:24.07" end="00:07:26.14" style="1">But importantly, we can do in about two to three days.</p>
<p begin="00:07:26.14" end="00:07:27.51" style="1">In fact, by the end of this year,</p>
<p begin="00:07:27.51" end="00:07:31.21" style="1">we'll be able to do it in about a day-- remarkable reduction</p>
<p begin="00:07:31.21" end="00:07:33.09" style="1">in cost from $1 billion to something</p>
<p begin="00:07:33.09" end="00:07:36.69" style="1">that is very quickly approaching $1,000.</p>
<p begin="00:07:36.69" end="00:07:38.86" style="1">The third area I just want to briefly tell you about</p>
<p begin="00:07:38.86" end="00:07:40.82" style="1">is what are we doing with all this information.</p>
<p begin="00:07:40.82" end="00:07:44.66" style="1">We now know much more about how our blueprint works.</p>
<p begin="00:07:44.66" end="00:07:49.25" style="1">We now have the ability to read out human genomes very, very</p>
<p begin="00:07:49.25" end="00:07:51.49" style="1">efficiently, cost-effectively. </p>
<p begin="00:07:51.49" end="00:07:53.59" style="1">And we're thinking about how it is</p>
<p begin="00:07:53.59" end="00:07:57.21" style="1">that we can use that information to now apply this to medicine.</p>
<p begin="00:07:57.21" end="00:07:59.42" style="1">In fact, I work at the National Institutes of Health,</p>
<p begin="00:07:59.42" end="00:08:01.01" style="1">and one of the reasons from the beginning</p>
<p begin="00:08:01.01" end="00:08:03.18" style="1">that we've been involved in the Human Genome Project</p>
<p begin="00:08:03.18" end="00:08:05.68" style="1">and genomics is because this idea that</p>
<p begin="00:08:05.68" end="00:08:07.64" style="1">so much about our health and disease</p>
<p begin="00:08:07.64" end="00:08:10.52" style="1">is scripted in each of our individual blueprints,</p>
<p begin="00:08:10.52" end="00:08:11.92" style="1">our individual genomes. </p>
<p begin="00:08:11.92" end="00:08:13.88" style="1">And if we have the ability to read out</p>
<p begin="00:08:13.88" end="00:08:15.83" style="1">the complete genomes of individuals,</p>
<p begin="00:08:15.83" end="00:08:18.04" style="1">we'd be able to learn a lot about their health</p>
<p begin="00:08:18.04" end="00:08:20.83" style="1">and maybe think about better ways to treat their diseases.</p>
<p begin="00:08:20.83" end="00:08:21.96" style="1">What does that really mean? </p>
<p begin="00:08:21.96" end="00:08:22.69" style="1">What does that look like? </p>
<p begin="00:08:22.69" end="00:08:24.36" style="1">What have we done in the last 10 years?</p>
<p begin="00:08:24.36" end="00:08:28.67" style="1">Well, each of you consists of about 6 billion letters.</p>
<p begin="00:08:28.67" end="00:08:29.85" style="1">You have genomes in you. </p>
<p begin="00:08:29.85" end="00:08:32.74" style="1">You got 3 billion from mom, you got 3 billion from dad.</p>
<p begin="00:08:32.74" end="00:08:35.13" style="1">Together you're 6 billion letters.</p>
<p begin="00:08:35.13" end="00:08:37.74" style="1">And it turns out that if you look to the person to your left</p>
<p begin="00:08:37.74" end="00:08:40.64" style="1">or the person to your right, across your 6 billion letters,</p>
<p begin="00:08:40.64" end="00:08:44.03" style="1">you only differ from that person sitting next to you by about 3</p>
<p begin="00:08:44.03" end="00:08:46.83" style="1">million to 5 million of those letters might be different--</p>
<p begin="00:08:46.83" end="00:08:48.13" style="1">3 - 5 million differences. </p>
<p begin="00:08:48.13" end="00:08:51.11" style="1">And in fact, we already know when computer databases,</p>
<p begin="00:08:51.11" end="00:08:52.98" style="1">because of the studies we've done the last 10</p>
<p begin="00:08:52.98" end="00:08:57.48" style="1">years, that all but about 150,000 of those 3</p>
<p begin="00:08:57.48" end="00:08:59.36" style="1">- 5 million differences between you</p>
<p begin="00:08:59.36" end="00:09:00.89" style="1">and the person sitting next to you,</p>
<p begin="00:09:00.89" end="00:09:02.85" style="1">we've seen before, we've seen in another person</p>
<p begin="00:09:02.85" end="00:09:06.29" style="1">before, it exists, we know about it, it's in databases.</p>
<p begin="00:09:06.29" end="00:09:08.58" style="1">Now, the great, great, great, great, great majority</p>
<p begin="00:09:08.58" end="00:09:10.78" style="1">of these variants, these things that</p>
<p begin="00:09:10.78" end="00:09:12.57" style="1">differ, a letter that's different</p>
<p begin="00:09:12.57" end="00:09:14.64" style="1">compared to the person sitting next to you</p>
<p begin="00:09:14.64" end="00:09:16.72" style="1">doesn't mean anything, doesn't affect your health,</p>
<p begin="00:09:16.72" end="00:09:18.40" style="1">doesn't affect your diseases. </p>
<p begin="00:09:18.40" end="00:09:19.79" style="1">It's just basically silent. </p>
<p begin="00:09:19.79" end="00:09:24.82" style="1">But a very small subset of those differences might not be good.</p>
<p begin="00:09:24.82" end="00:09:26.45" style="1">It might make you more susceptible</p>
<p begin="00:09:26.45" end="00:09:27.81" style="1">to getting a disease. </p>
<p begin="00:09:27.81" end="00:09:30.20" style="1">And another subset of those variants might be good.</p>
<p begin="00:09:30.20" end="00:09:32.70" style="1">They may actually protect you from getting disease or having</p>
<p begin="00:09:32.70" end="00:09:35.14" style="1">some other positive attribute. </p>
<p begin="00:09:35.14" end="00:09:36.73" style="1">We've learned a lot about this. </p>
<p begin="00:09:36.73" end="00:09:41.14" style="1">We now know, for example, that out of your 20,000 genes,</p>
<p begin="00:09:41.14" end="00:09:43.72" style="1">there's about 20 of them that are completely broken,</p>
<p begin="00:09:43.72" end="00:09:46.83" style="1">both the copy you got from mom, the copy you got from dad.</p>
<p begin="00:09:46.83" end="00:09:48.06" style="1">And yet you may be fine. </p>
<p begin="00:09:48.06" end="00:09:49.92" style="1">Or in some cases, maybe it's one of those genes that's</p>
<p begin="00:09:49.92" end="00:09:51.59" style="1">broken that might make you a little more</p>
<p begin="00:09:51.59" end="00:09:54.04" style="1">susceptible to getting the disease.</p>
<p begin="00:09:54.04" end="00:09:56.48" style="1">So this is all leading to an exciting new--</p>
<p begin="00:09:56.48" end="00:09:58.10" style="1">I don't want to say revolution, but let</p>
<p begin="00:09:58.10" end="00:10:00.52" style="1">me say a significant acceleration of what's</p>
<p begin="00:10:00.52" end="00:10:02.90" style="1">going on in clinical medicine in a new field</p>
<p begin="00:10:02.90" end="00:10:06.12" style="1">that we're very much involved in called genomic medicine, which</p>
<p begin="00:10:06.12" end="00:10:08.17" style="1">is an emerging medical discipline that involves</p>
<p begin="00:10:08.17" end="00:10:10.52" style="1">using an individual's genomic information as part</p>
<p begin="00:10:10.52" end="00:10:12.37" style="1">of their clinical care. </p>
<p begin="00:10:12.37" end="00:10:14.79" style="1">When I went to medical school, you would talk to patients,</p>
<p begin="00:10:14.79" end="00:10:16.67" style="1">you'd learn as much as you could about them.</p>
<p begin="00:10:16.67" end="00:10:18.60" style="1">But you mostly had to treat them generically,</p>
<p begin="00:10:18.60" end="00:10:21.33" style="1">because we had no way of looking inside their blueprint</p>
<p begin="00:10:21.33" end="00:10:22.90" style="1">to see how they might be different</p>
<p begin="00:10:22.90" end="00:10:24.10" style="1">from the next patient. </p>
<p begin="00:10:24.10" end="00:10:27.10" style="1">But this is all changing, because now we have the ability</p>
<p begin="00:10:27.10" end="00:10:30.12" style="1">to start to treat people, not generically but in a very</p>
<p begin="00:10:30.12" end="00:10:33.02" style="1">personalized way by getting information</p>
<p begin="00:10:33.02" end="00:10:35.17" style="1">about their own unique blueprint.</p>
<p begin="00:10:35.17" end="00:10:38.26" style="1">And with that, we'll get clues about how to better treat them.</p>
<p begin="00:10:38.26" end="00:10:39.96" style="1">Let me just give you a few examples</p>
<p begin="00:10:39.96" end="00:10:43.51" style="1">of how the future is now in genomic medicine</p>
<p begin="00:10:43.51" end="00:10:44.97" style="1">just to sort of whet your appetite.</p>
<p begin="00:10:44.97" end="00:10:47.65" style="1">Each of these is a topic in and of themselves.</p>
<p begin="00:10:47.65" end="00:10:50.79" style="1">For example, between now at the end of the decade,</p>
<p begin="00:10:50.79" end="00:10:54.23" style="1">I guarantee you will hear story after story after story--</p>
<p begin="00:10:54.23" end="00:10:55.65" style="1">and you already heard one recently</p>
<p begin="00:10:55.65" end="00:10:59.89" style="1">with Angelina Jolie-- whereby cancer and genomics will</p>
<p begin="00:10:59.89" end="00:11:01.95" style="1">be put into the same sentence. </p>
<p begin="00:11:01.95" end="00:11:04.05" style="1">Cancer is a disease of the genome.</p>
<p begin="00:11:04.05" end="00:11:06.63" style="1">What happens in cancer is the genome is broken in some way.</p>
<p begin="00:11:06.63" end="00:11:08.71" style="1">There's some things that are different in a genome</p>
<p begin="00:11:08.71" end="00:11:09.93" style="1">in that tumor. </p>
<p begin="00:11:09.93" end="00:11:14.23" style="1">And as a result of it, that is why a cancer is a cancer.</p>
<p begin="00:11:14.23" end="00:11:17.24" style="1">We now have the ability to take a cancer specimen</p>
<p begin="00:11:17.24" end="00:11:19.49" style="1">and look inside its broken blueprint</p>
<p begin="00:11:19.49" end="00:11:21.02" style="1">and figure out what's wrong. </p>
<p begin="00:11:21.02" end="00:11:23.36" style="1">And with that, becomes powerful new insights</p>
<p begin="00:11:23.36" end="00:11:26.53" style="1">about prognosis for that individual, perhaps the best</p>
<p begin="00:11:26.53" end="00:11:29.57" style="1">treatment, and also in looking at many, many examples</p>
<p begin="00:11:29.57" end="00:11:31.83" style="1">of the same kind of cancer, thinking of new ways</p>
<p begin="00:11:31.83" end="00:11:33.90" style="1">to treat that cancer by seeing specifically</p>
<p begin="00:11:33.90" end="00:11:36.00" style="1">what is broken in that blueprint.</p>
<p begin="00:11:36.00" end="00:11:38.00" style="1">And this is going to have some of the earliest</p>
<p begin="00:11:38.00" end="00:11:41.93" style="1">clinical applications is how we will treat cancer.</p>
<p begin="00:11:41.93" end="00:11:45.61" style="1">The second area-- complicated long word-- pharmacogenomics,</p>
<p begin="00:11:45.61" end="00:11:47.58" style="1">genomics and pharmacy. </p>
<p begin="00:11:47.58" end="00:11:50.12" style="1">Turns out that all of us have experience with medications</p>
<p begin="00:11:50.12" end="00:11:53.11" style="1">that sometimes don't work in us or make us sicker.</p>
<p begin="00:11:53.11" end="00:11:55.45" style="1">We're now learning that the reason why some of us</p>
<p begin="00:11:55.45" end="00:11:58.86" style="1">are good responders or bad responders to medications</p>
<p begin="00:11:58.86" end="00:12:01.74" style="1">is because it's the way we metabolize or handle</p>
<p begin="00:12:01.74" end="00:12:04.56" style="1">that medication, which is scripted in our blueprints.</p>
<p begin="00:12:04.56" end="00:12:05.99" style="1">We just a little different how we</p>
<p begin="00:12:05.99" end="00:12:07.84" style="1">handle different medications. </p>
<p begin="00:12:07.84" end="00:12:10.10" style="1">And now there's over 100 medications</p>
<p begin="00:12:10.10" end="00:12:13.62" style="1">that it is called for to do some sort of genomic analysis,</p>
<p begin="00:12:13.62" end="00:12:16.24" style="1">a look in the blueprint of an individual before deciding</p>
<p begin="00:12:16.24" end="00:12:17.86" style="1">whether they should get this medication</p>
<p begin="00:12:17.86" end="00:12:19.80" style="1">or they should get a different medication.</p>
<p begin="00:12:19.80" end="00:12:22.18" style="1">Increasingly, between now and the end of the decade,</p>
<p begin="00:12:22.18" end="00:12:25.28" style="1">don't be surprised if before you go to a prescription,</p>
<p begin="00:12:25.28" end="00:12:27.58" style="1">they will want to do a genomic test to figure out</p>
<p begin="00:12:27.58" end="00:12:29.59" style="1">what is the best medicine to give you</p>
<p begin="00:12:29.59" end="00:12:32.33" style="1">for that particular disorder. </p>
<p begin="00:12:32.33" end="00:12:35.15" style="1">The third example relates to rare disease.</p>
<p begin="00:12:35.15" end="00:12:37.54" style="1">Well, in rare diseases, patients often</p>
<p begin="00:12:37.54" end="00:12:39.67" style="1">have a single gene that is broken.</p>
<p begin="00:12:39.67" end="00:12:42.61" style="1">Their blueprint for that particular gene</p>
<p begin="00:12:42.61" end="00:12:44.36" style="1">and that particular product is somehow not</p>
<p begin="00:12:44.36" end="00:12:47.94" style="1">working, whether it's cystic fibrosis, Huntington's disease,</p>
<p begin="00:12:47.94" end="00:12:52.06" style="1">breast cancer in the case of Angelina Jolie, and so forth.</p>
<p begin="00:12:52.06" end="00:12:54.21" style="1">When the Genome Project began, we only</p>
<p begin="00:12:54.21" end="00:12:57.85" style="1">knew what was broken in a blueprint for about 60</p>
<p begin="00:12:57.85" end="00:13:00.14" style="1">or so rare genetic diseases. </p>
<p begin="00:13:00.14" end="00:13:03.00" style="1">Today, it's almost 5,000. </p>
<p begin="00:13:03.00" end="00:13:06.57" style="1">The other thing we now can do is for ultra-rare genetic disorder</p>
<p begin="00:13:06.57" end="00:13:09.71" style="1">disorders-- these are tragic cases of individuals</p>
<p begin="00:13:09.71" end="00:13:11.92" style="1">with diseases that a clinician has never seen before,</p>
<p begin="00:13:11.92" end="00:13:13.50" style="1">and they go from hospital to hospital,</p>
<p begin="00:13:13.50" end="00:13:16.11" style="1">medical center to medical center, no clues.</p>
<p begin="00:13:16.11" end="00:13:17.89" style="1">Increasingly, we can just say, all right,</p>
<p begin="00:13:17.89" end="00:13:19.99" style="1">we're just going to read out that individual's</p>
<p begin="00:13:19.99" end="00:13:23.47" style="1">genome for maybe $2,000, $3,000, $4,000, $5,000,</p>
<p begin="00:13:23.47" end="00:13:26.83" style="1">look to see what's wrong, and not always, but in many cases,</p>
<p begin="00:13:26.83" end="00:13:29.12" style="1">we can figure it out what's wrong with that individual.</p>
<p begin="00:13:29.12" end="00:13:31.11" style="1">And you read about these stories all the time</p>
<p begin="00:13:31.11" end="00:13:34.74" style="1">in the newspaper, because it's becoming much more commonplace.</p>
<p begin="00:13:34.74" end="00:13:36.17" style="1">And the fourth area, which is very</p>
<p begin="00:13:36.17" end="00:13:38.79" style="1">much is the future is now, because it's way cool,</p>
<p begin="00:13:38.79" end="00:13:41.86" style="1">is the idea that so much goes on in prenatal testing</p>
<p begin="00:13:41.86" end="00:13:43.85" style="1">and has been for many years with amniocentesis</p>
<p begin="00:13:43.85" end="00:13:46.15" style="1">and chorionic villus sampling. </p>
<p begin="00:13:46.15" end="00:13:48.91" style="1">But increasingly now, we have learned that we can simply</p>
<p begin="00:13:48.91" end="00:13:51.63" style="1">draw the blood of a pregnant woman,</p>
<p begin="00:13:51.63" end="00:13:54.30" style="1">and floating around in that woman's blood</p>
<p begin="00:13:54.30" end="00:13:58.21" style="1">are little bits and pieces of DNA from that unborn baby.</p>
<p begin="00:13:58.21" end="00:14:01.47" style="1">And we can actually do all sorts of analyses of that DNA,</p>
<p begin="00:14:01.47" end="00:14:04.17" style="1">including, as demonstrated in the last few months</p>
<p begin="00:14:04.17" end="00:14:06.94" style="1">by some genomic researchers here in the United States,</p>
<p begin="00:14:06.94" end="00:14:09.20" style="1">you can actually read out the complete sequence</p>
<p begin="00:14:09.20" end="00:14:13.64" style="1">of that unborn baby just by having a sample of mom's blood.</p>
<p begin="00:14:13.64" end="00:14:15.89" style="1">So the idea of having more noninvasive</p>
<p begin="00:14:15.89" end="00:14:18.83" style="1">prenatal genomic analyses available really</p>
<p begin="00:14:18.83" end="00:14:21.68" style="1">is coming to the forefront immediately.</p>
<p begin="00:14:21.68" end="00:14:24.99" style="1">The future truly is now for things like that.</p>
<p begin="00:14:24.99" end="00:14:27.04" style="1">So in wrapping up, let me tell you</p>
<p begin="00:14:27.04" end="00:14:29.63" style="1">that having been involved in genomics for 25 years, when</p>
<p begin="00:14:29.63" end="00:14:31.54" style="1">I first became involved in it, it was really</p>
<p begin="00:14:31.54" end="00:14:34.18" style="1">about researchers, people like me in the laboratory,</p>
<p begin="00:14:34.18" end="00:14:36.84" style="1">toiling away, studying the genome.</p>
<p begin="00:14:36.84" end="00:14:39.34" style="1">Increasingly, over the last few years in particular</p>
<p begin="00:14:39.34" end="00:14:41.59" style="1">and the last decade since the Genome Project ended,</p>
<p begin="00:14:41.59" end="00:14:43.63" style="1">it's become relevant to health care professionals</p>
<p begin="00:14:43.63" end="00:14:45.93" style="1">as we see a future where genomics</p>
<p begin="00:14:45.93" end="00:14:48.00" style="1">will be relevant for the care of patients.</p>
<p begin="00:14:48.00" end="00:14:49.56" style="1">But you know what? </p>
<p begin="00:14:49.56" end="00:14:51.86" style="1">By the end of this decade for certain and in some cases</p>
<p begin="00:14:51.86" end="00:14:54.10" style="1">already, the reason this is all relevant</p>
<p begin="00:14:54.10" end="00:14:57.37" style="1">for you is because genomics is relevant for patients</p>
<p begin="00:14:57.37" end="00:14:59.34" style="1">and friends and relatives of patients,</p>
<p begin="00:14:59.34" end="00:15:01.31" style="1">which means all of us. </p>
<p begin="00:15:01.31" end="00:15:03.18" style="1">And so it's in that spirit, recognizing</p>
<p begin="00:15:03.18" end="00:15:05.65" style="1">that as part of your routine medical care</p>
<p begin="00:15:05.65" end="00:15:08.00" style="1">in the coming years, genomics will be important</p>
<p begin="00:15:08.00" end="00:15:10.76" style="1">for you to be aware of and be knowledgeable about</p>
<p begin="00:15:10.76" end="00:15:14.02" style="1">that our institute forged a partnership with the National</p>
<p begin="00:15:14.02" end="00:15:15.98" style="1">Museum of Natural History and the Smithsonian</p>
<p begin="00:15:15.98" end="00:15:19.35" style="1">to create a new exhibition called Genome Unlocking Life's</p>
<p begin="00:15:19.35" end="00:15:19.95" style="1">Code. </p>
<p begin="00:15:19.95" end="00:15:21.53" style="1">It's been an incredible collaborations</p>
<p begin="00:15:21.53" end="00:15:23.91" style="1">between two parts of the federal government, the National</p>
<p begin="00:15:23.91" end="00:15:25.37" style="1">Institutes of Health, where I work,</p>
<p begin="00:15:25.37" end="00:15:28.66" style="1">and this wonderful institution called the Smithsonian.</p>
<p begin="00:15:28.66" end="00:15:30.97" style="1">So thank you very much for your attention.</p>
<p begin="00:15:30.97" end="00:15:38.82" style="1">[APPLAUSE] </p>