Health@Google: "The Genetic Revolution and Predictive Medicine" with Dr. Brandon Colby

Uploaded by AtGoogleTalks on 26.10.2011

>>Jen Clark: Hello everyone. Welcome. Thanks for
coming. I'm really happy about today. My name is Jen
Clark. I'm from the benefits team. I work on the OYL
program. This is part of the health@speaker series which
is aimed at providing information to Googlers about health
and wellness topics. I've got a slide up there that tells you a little bit more.
We welcome your feedback on any these topics. So if you have
some, please feel free to goto/health@survey. For more
information on OYL, please check out and goto/OYL. And
if you're interested in planning and being involved in these types of talks,
please check out goto/wellnesschampions. And I'm particularly excited because Brandon
was a school classmate of mine at the Stanford Graduate
School of Business about four, five years ago. And he's
now taking his experience as a physician and as someone
with business training in exploring ways to use business
and health together. So I'm really excited to have him
here. A little bit background on Brandon. Doctor Brandon
Colby is a world leader in the field of predictive
medicine, a groundbreaking medical specialty that combines
comprehensive genetic testing with personalized prevention based upon your genes. Dr. Colby
has been involved in the genetics field for his entire
life, first as a patient then as a researcher and now
as a practicing physician. He has conducted extensive research
in the field of advanced clinical genetic analysis,
inventing numerous patent-pending technologies that make comprehensive
genetic screening understandable, useful, and empowering to
both the physician and the patient. Dr. Colby is also
the only practicing physician in the world to have
designed a first of its kind DNA chip which I believe
you all will see later. In addition to serving as the medical
director of the Existence Health, a predictive medicine private practice based
in Los Angeles, Dr. Colby is also the founder and CEO of
his Existence Genetics, a company that provides highly
advanced predictive medicine services to the health
industry. He holds a degree in genetics from the
University of Michigan honors program, an M.D. from the
Mount Sinai school of medicine and an MBA from the Stanford
Graduate School of Business. Please join me in welcoming
Dr. Colby.
>>Dr. Colby: Thank you, Jen. Today is an incredibly important day for our civilization. And it's
important because we stand right at the point of transition
between the age of information and the age of personalization.
We're moving from this information age where we now have
an unprecedented amount of access to information. Basically, our world's accumulated information
as knowledge accessible to anyone and any time
from anywhere for practically no cost. And we're moving
from access to this information from this generic information
to now personalizing it and making it about a unique
person -- about each of us in unique ways. And the fundamental
underpinning of how information is made to be
personalized on how each of us is unique is our genes.
And that's what I'm going to talk about today -- gaining
access to our genes through genetic testing, understanding what that means, and then using
that information to personalize products and services.
Since I'm a doctor, I'm going to talk about how
we can use that information to personalize health care. This
is applicable to really any product and service
that we could think of. And in the future, we're going
to start to see a genetically-tailored world that all
products and services are going to start to be tailored
to our genes. They're going to be personalized. So to begin,
I'm going to walk you through an example that we're
all going to participate in. For some of you, it may help
to close your eyes. For others, let's just imagine
that we're standing in a darkroom. And the room is so
dark, we can't even see our hand in front of our face.
All of a sudden, we feel something come up and kick
us in the back of the leg. We turn around, we try to defend
ourselves, but we can't, because we don't know what's
attacking us, we don't know when it's going to come again
and we feel something go and punch us in the stomach.
We try to defend ourselves again and we can't and again
we get hit in the head. Now, I know this seems like an
awkward situation, but this is actually the current
state of health care that we're in practically the
dark ages. We don't know what diseases may lay ahead. We
don't know what we may be faced with and we don't know when
they may come and attack us. Now, imagine that we're back
in that room again, it's very dark, we can't see, and somebody
places something into our hands, a tool. But we don't
know whether that tool is going to help us, whether we'll be
able to use that tool to defend ourselves or potentially that tool is going to harm
us. And that's the current state of many of the treatments that
we receive, a lot of the medications that are prescribed to us. We don't know if
they're going to be effective. We don't know if they're
potentially going to harm us. And the person who hands
you that tool in that room is your doctor, your
physician. And their eyesight--. Our eyesight is not
much better than yours. That we can't really make out
what's ahead. We use family history to try to guess at
what diseases you may be predisposed to. We ask you
questions like, "have you ever had a an allergic reaction
before?" To try to guess at medications that we don't
want to give you. But other than that, our eyesight is
really not much better. We can make out shadows, but we
don't really know what is there. We don't know what
diseases lay ahead for you. And because of that, we
can't really prevent anything from coming and attacking
you. Now, we talked about this model, so health care in terms of
being in the dark ages. What predictive medicine does,
which is combining genetic testing with the personalized
prevention of disease is, it turns the light on. It
allows us, through genetic testing, to examine an
individual's genes to see what diseases they may be
predisposed to. And then to add preventions before those
diseases ever manifest. So it's turning the light on in
the room, allowing us to see what's lurking in those
shadows, allows us to best take preemptive measures, to
either prevent that disease from ever attacking us. Or if
we see it coming towards us because that light now is on
in the room, we could take steps to make sure that it has
the smallest amount of impact upon us as possible. And
also genetic testing allows us to know whether medications, whether certain treatments, even
lifestyle modifications as we'll discuss, whether those
will help slow down or prevent disease. So, we're moving
now from standing in this very dark room to turning
on the light. To be able to turn on the light through genetic
testing and predictive medicine.
So let's move on to the next example and actually walk
through a person's life and see how this could impact
somebody today. Because everything we're going to
discuss in this entire talk is possible today. So let's
say today a baby is born. Baby Emily. She's born
completely healthy, lives a normal childhood, teenage years,
no problem. She gets through her 20s. She's fine. She
turns 30. She begins to start a family and all of a
sudden she goes and has a massive heart attack. She's in
the intensive care unit for about two weeks and then
unfortunately she dies. Now, her parent -- I'm sorry --
her physicians did absolutely nothing wrong. So the
physicians practice medicine as they're taught. That
they treated her like a generic patient. Throughout her
teenage years, throughout her 20s, hardly ever does a
doctor closely examine somebody's heart, because most
people that age -- their hearts are fine. But Emily is
unique as most of us are. She was unique. She contained
genes that were predisposing her to early onset heart
attack and her doctors just had no idea. They were
standing in that dark room. And that's why a heart
attack was able to go and manifest. Her cholesterol built up.
It was never detected and she had that heart attack. So
now we have tremendous heartache. Her family has lost a
loved one. We have doctors who were powerless to protect
their patient's life. And we also have society that now
has spent a tremendous amount of money on this ICU care
in the intensive care unit and lost a productive member
of their community at the end. So let's say slightly
different scenario. Emily is in the intensive care unit.
She's able to be saved and her doctors go and prescribe a
medication. A medication that they give to a lot of
people in this situation. And they treat Emily again
like a generic patient. They start her at 5 milligrams.
Everybody who receives this blood thinner receives it at
5 milligrams. And most of us are used to that. When our
doctor prescribes us medications, it's at the same dose
that you know they've given to the last person and
they'll give to the next person. But, for Emily, she's
extremely sensitive to this medication. Her doctors
had no idea. They didn't want to cause any harm, but
they thinned her blood so much with that 5 milligrams
that she ended up bleeding into her brain and she died
again. So again, we have the loss of life, we have the
heartache and we have the loss to society in terms of
spending a tremendous amount of money and now actually
causing more harm than good. So now, the model of
predictive medicine -- of using genetic testing -- to
predict disease. We could go all the way to when Emily
is born. Genetic testing is so simple now, doesn't even
require any blood. So her parents choose to have genetic
testing for Emily. They collect some of her saliva with
her pediatrician. They send that for testing and analysis, which
we'll talk about later. And the doctor gets back the
report and sees that Emily contains genes that predispose
her to early onset heart attack. And again, this is
possible now. So the doctor makes note of that. There's
not much to be done right at that age when she's a baby,
but when she enters her teenage years, her doctors do
something differently. They start to pay attention to
her heart, because that light has been turned on in the
room. They know heart disease is lurking in the shadows.
So they start doing blood tests, they start monitoring
her cholesterol levels. Different biomarkers. And when she gets
to about 18 or 19, they see that her cholesterol levels
start to go up. So the doctors go and work with her --
go over her genetic report in terms of lifestyle modifications. Let's not start medications
right now, they say. Let's focus on lifestyle modifications.
They're able to go tailor her cardiovascular exercise to
her genes. So that she's able to optimize what are going
to be the most effective exercises for her. They're also
able to go and start to tailor some of her nutrition. So
they talk about some of the generic things we're told in terms of
low fat diet, staying away from refined sugars. But they
also tell her based upon her genetic profile, eating a
specific type of vegetable, cruciferous vegetables, are
likely to be beneficial to her in cutting down her heart
attack risk. And they also see from her genetic report
that she's likely not to like the taste of these
vegetables. Based upon taste bud genes, those vegetables
are likely to taste really bitter to her. So they tell her
different methods to still eat those vegetables but avoid
that bitter taste such as mixing them with other foods.
So as you see they're completely tailoring these
lifestyle recommendations to her genes to make them as
effective as possible. So now Emily is able to go and
integrate this into her lifestyle. She slows down the
progression of disease significantly. But then in her
mid 30s, her doctors are still conscientiously monitoring
her blood. They see her cholesterol levels increasing
again. So at that time, her doctors say, "all right, we
have to go and start integrating some medications." The
genes were -- we were able to slow down the process but
now we need medications. We need something stronger. So
you look at the genetic profile that was taken when Emily
was just a child. And they see that she's very sensitive
to a medication they're about to prescribe. So instead
of giving 5 milligrams, they give 0.5 milligrams. Emily
is able to avoid a heart attack. She's able to raise a
family, have grandchildren, and live a full life. Now
the doctors are able to focus in on what's important for
Emily and also provide the most effective preventions and
treatments. So they've been a success, too. And now our
society has gained a productive member of the community
throughout her entire life. And they focus all their
health care spending on that which matters most and that which is going to be most
effective. So that is what genetic testing now allows --
it allows us to go turn on that light for health care. It
allows us to move from our current model of health care,
which is really more like sick care. Most of us just
wait until we get sick and then we see a doctor. We wait
for a disease to occur and then we go and we diagnose and
doctors hope that they could treat. But what this new
model -- this genetic testing, this personalization of healthcare -- allows us to do is actually
go and move to a different paradigm where we focus on the
proactive personalized prevention of disease throughout a
person's life. Now, we've been talking about genetic
testing. It's a bit nebulous to people in terms of what
exactly genetic testing is. And genetic testing is
really a generic term people use to refer to three things
or three components of genetic technology. The first is
testing, so that's the acquisition of raw data. The
second is analysis, or clinical analysis, that's
transitioning that data, translating it from this raw
data to an actionable information state. And the third
is reporting. It's actually delivering that to the end
user. We'll talk about each one of those now. So the
first component -- just get to the slide -- [pause] okay great, thank
you. So the first component is testing. And testing is
acquiring all the raw data -- all the letters of our
genetic code. And this involves a lot of hardware. So
it involves laboratory function. And I'm going to talk
about two other types of technology that allows us to
undergo this genetic testing. Let's take a step back and
think about where genetic testing was about ten years ago. So
ten years ago to look at one single gene may have cost 5,
10, even 20,000 dollars and it would have taken months
for that to be turned around. And almost always, you had
to go and give blood; so it was invasive. Now with this
new technology that we'll discuss first, -- called a DNA chip
or microarray -- that's a generic term. Now with this new
technology, we don't have to look at just one gene. We
can look at thousands of genes all at the same time for
just a few hundred dollars. So it's been a major
inflection point in terms of how much we're able to do
for much more cost effective price point. And also all
we have to do right now is really use saliva. We do not
need to use blood anymore. So it's become non-invasive.
And this is a picture of one type of gene chip, of a DNA
chip. This is the one that I spent about six years
creating called the Nexus DNA chip. This is the actual
chip itself. So one of these is used to process 12
different samples. And you could come up and take a look
at this after, but this is just so that you guys have an
idea of the scale that it's quite small. And what this
does is, it allows us to look at thousands of genes all at
the same time. And it skips over all of the irrelevant
information. So this is one gene. And you could think
of all the letters -- so all those are different GPS
coordinates. And only those that are in red are known to
be associated with some clinical state. They have some
relevancy. All the other data is just extraneous. Even
if we had it, we wouldn't do anything with it. So what a
DNA chip allows us to do is hone in -- zero in -- on
those that are red and test those in the individual. So we're
testing several different letters in one gene. Then we
move on to the next gene and the next and the next. So
we're skipping over all that is superfluous. We're
focusing in on that which is most important. Now, the Nexus DNA chip is
important for predictive medicine purposes. There are
different chips out there. This one is specific for
really protecting a person's health, for preventing disease risk and then finding out what's really
going to be the most effective preventions. And this
has really unlocked this new era -- this genetic revolution.
Our ability to move towards personalization because
of this technology which is just a few hundred dollars.
Now, there's a new technology that's currently
in development. It's moving along quite rapidly called whole
genome sequencing. Many of us are probably familiar
with the human genome project. That took about ten
years. It was completed in 2003. And it cost about 3 billion
dollars to accomplish. Required an international team
of scientists. So 2003, 3 billion dollars. And
that was all to sequence a single person. And whole
genome sequencing mean you're getting 6 billion letters
per person. So the DNA chip may acquire tens of
thousands to millions of letters. This new technology requires
every single letter. So it acquires both the black
and the red. It doesn't distinguish. It just gets
the entire sequence. And that's 6 billion letters per
person. So what costs 3 billion dollars and took ten
years and ended in 2003 today could be done for 4,000 dollars
and takes about a month. That's projected to come down
quite rapidly all the way to 500, 100 dollar mark
and soon under a day, maybe even an hour where we're
able to go accumulate all this data. As we see from the
DNA chip where it's getting tens of thousands to millions
of relevant data points to whole genome sequencing that getting 6
billion, it's an avalanche of data. So tremendous amount
of raw data we have to deal with right now. And that's
where the next component comes in that's clinical analysis.
So that's why moving from testing to analysis
is really important. And we'll talk about that in a
moment. But first, how relevant is whole genome sequencing
to us? And this chart shows the decreasing cost.
So the lines that are in red and black and green are different
costs of this technology of whole genome sequencing.
The line that's in blue is a number of people who have
had their genome sequenced. Number of just individuals.
So by the end of this year we'll be somewhere around
50,000; it's projected to be around that. And we think
to about 2014 or so we're looking at closer to 10 to 100
million. We look at 2020, we're looking at close to a
billion genomes. A billion people having their entire
sequence deduced. So a billion people and 6 billion
letters per person. So it's just a tremendous avalanche
of data. And now, the question arises, "What do we
do with all that data? How do we make sense of that?"
And that's really what my team and I specialize in. It's
clinical analysis and reporting of this tremendous
amount of raw data that's now able to be accumulated using
this new technology. And what clinical analysis does
is, it translates the data from just raw data into
actionable meaningful information. It allows value to
be attributed to them. Because without analysis, all those
letters of a person's genome are really nothing more
than a high-tech paper weight. That's -- it's not
even a paper weight because you can fit that on a small
thumb drive. So it's quite light. None of that is important
to a person's health unless that data is translated
into information. I'm going to go through one example
of a clinical analysis technology just so that
you have some idea of what I'm talking about when I refer
to analysis. Let's think back to the baby Emily example
that she has genetic testing, she's found to be at increased
risk of a heart attack, then I also mention that different
medications are analyzed. So that means that different
genes are looked at after a heart attack risk is
detected. Different genes are analyzed in relation to
different preventions and treatments associated with
heart attack. Different lifestyle modifications -- like
the cruciferous vegetables and whether that taste that
Emily is going to enjoy the taste or not, those genes are
analyzed. So it's a whole another set, all different
sets of genes are then analyzed after that initial center
node, that center disease. And we could see a flowchart
here that goes first rounds, a risk of heart attack is
deduced. Then the reflex analysis comes in. This is all
software based, so we move from the testing which is
hardware to now the clinical analysis which is software.
So the software is doing this and it's programmed specifically to be able to do this analysis.
It moves from this first round to this second round
which looks at different medications whether they're going
to be effective, whether somebody is going to be
sensitive to them. It also looks at lifestyle modifications.
We could even now start to provide someone information
whether surgery -- like a coronary artery bypass graft-- is
going to be effective or not. That's still in the
preliminary stages while these other information now is
in the much more advanced stage. And then the third
round of analysis we could go even deeper. So we could
start to look at specific dosing for some of the
medications. That where we look at whether the person is
going to like the taste of vegetables. Look at things that
are associated with exercise. Reflex analysis really
goes as deep as needed in order to get all of these
reflexes -- all of these different sets of genes
analyzed. And the whole purpose is to make that analysis
now integrated, which makes it much more actionable. And
we'll see that as it's presented in the genetic report in
a few minutes. And this allows us to analyze a
tremendous amount of data all at once, so all together.
Instead of thinking about it in a 2-dimensional way, this
allows us to analyze things 3-dimensionally. And this is
computer software that we created to enable this reflex
analysis. So that enables us to go and set up these types of
reflexes, underlying each of the nodes that you see is a
whole set of diseases, whole sets of algorithms for
traits or medications or conditions. But this allows us
our IT system to know to analyze one then to reflex to
another one and then potentially another one and another
one. So we've talked about testing. So the acquiring
the raw data. And we talked about analysis -- moving
that data into useful, understandable information. And
the third part is really key. Because without proper
reporting, that testing which may be extremely accurate
and the analysis which may be beautiful, without proper
reporting, then it's all useless. It's all wasted. The
end-user can't easily understand what that data means and
can't integrate that beneficially into their lives, then
all that usefulness is lost. The third step is
reporting. And there are many different types of report
formats out there. One is not better than the other.
It's just really dependent upon what you, the end-user,
wants to get out of genetic testing. So I'm going to go
over one of the types of reports. This is the report
that my team and I have come up with over the past five
years. But it's just as important to note that there are
many different types of report formats that are out there now.
So this is a report format for heart attack risk. This
is the actual report that's printed. So this is
delivered -- it would be delivered let's say to Emily's
pediatrician. And this is a report page that talks about
heart attack. It's actually two pages because there's so
many medications now associated with heart disease that
we could provide information about when we do genetic
testing. So right at the top, we see three gauges. The
gauge right in the center is risk. So this person is at
high risk. And it says specifically about 67 percent
risk. We like to focus more on the qualitative on these
zones. So they're in the zone of high risk. And that is
based upon analysis many different genes. And it's also
compared right below it to what's called generic population risk. That's the everyday risk
for a person if they have no idea what their genes contain.
It's just taken off of mass population studies and say
how many people around this age with this ethnicity
with this gender are likely to have this disease? And
for heart attacks, for a Caucasian male, it's around
47% lifetime risk. For this person based upon
their genes, it's closer to 70 percent risk. So they're
at high risk. Now there are two other gauges. A gauge on
the left is the clinical significance gauge. And that's
there so that a person understands, "is this information
even relevant to their health?" Because there's
some diseases or conditions that they may be really at high
risk for but it's not going to impact them significantly,
it's not going to cause them a lot of harm, it's not
going to be something they have to focus on or worry about. So if
in the report, there are some things that are very high clinical
significance high risk. And there are other things that
are very low clinical significance but high risk. They
know to focus on the ones that are more significant. They know -- they're able to differentiate
and their health care provider is able to differentiate
also and say, "okay. This one is much more important.
Let's focus on this." And for heart attack, it's
very significant to somebody's health. If somebody
has a heart attack, they could die, which is why
it has high clinical significance. Now, the last gauge
and one on the right is actionability. So even if somebody
comes back at high risk for something and it's very clinically
significant and there's low actionability, there's
nothing that could be done about it, then again what's the
point? So we really focus on the conditions, diseases
that have either moderate or high actionability. So
actionability means that we can implement preventions
such as lifestyle modifications, medications, complementary medicine therapies and even
different screening exams. We could implement these
and either prevent the disease outright or slow it down
significantly so that it manifests much later. And that
physicians now know to be on the lookout for these so
that it's detected at its earliest stages and able to be
treated much more effectively. So that's the actionability gauge. Now, about 60 percent
of this heart attack page is devoted to actionability to
actually describing, "what can be done with this information?"
So that gauge says actionability is high. Now
what do we do with that in order to make it actionable?
And that's a section that we call genetically tailored
prevention. So this is prevention where many of the recommendations
here are based on a person's genes. And we see
in the lifestyle modifications one -- the second
from the last bullet point -- is that cruciferous vegetable
example that we talked about with Emily. And there are other
recommendations within this genetically tailored prevention section that is on the screen now
that are based upon an analysis of a person's genes
using reflex analysis. So we see now through the testing-acquired data,
the analysis analyzed it in this integrated way and the
reporting is able to present it in a very integrated way
that makes for a rapid understanding and very easy for
a person to go and integrate this into their life and
to benefit from this information as well as their health care
provider to use this information to change their clinical
management and really provide much more personalized
services. So what we've seen now that genetic technology
-- there's three components. The testing, the analysis,
and the reporting. Now where can you get genetic testing?
Let's say you're interested in genetic testing.
Where can you go to actually access your genes and to learn
what can you do to protect your health? And there are
many different places. So the first is the Internet.
You can go and have Direct to Consumer genetic testing.
Which means you don't need a professional involved.
You can go to a website. You could pay for a service
that they will send you the collection kit just for
saliva. You send them back some of your saliva and in
about three or four weeks you get your results online.
Now, the other way to get it is through a health care
professional or health and wellness organization. And
there's no right way or wrong way. It's really based
upon your personal preference, what you feel is best for
yourself and what you hope to get out of this testing
process. So you could also go through your doctor who
could go and perform this testing, collect the saliva,
receive the report and then work with you to integrate
that information into your clinical care so that it
changes the way they're providing their care and also
they're able to counsel you on that information so that
you know what's best to integrate into your lifestyle and
into your daily habits. Now, part of that also is health
and wellness organizations. So beyond just health care
providers, health and wellness organizations, like
nutritionists, weight loss centers and even fitness
centers are starting to use genetic testing. I'm going
to walk you through a process so you can understand from
beginning to end what's involved when I say genetic
testing. So let's say you want genetic testing and
you're interested in having it through a health and
wellness organization. You can actually have genetic
testing now through Equinox Fitness. Many of us are
familiar with equinox from Palo Alto on El Camino Real.
So they are providing genetic testing services for their trainers
and the genetic testing is meant to optimize fitness and
also work to prevent some exercise-related diseases and
conditions. So your interested in genetic testing. You go
to equinox. You meet with one of their fitness coaches.
and you say you're interested in genetic testing. You
talk about it with them. And they provide you with the
saliva collection kit. This is an actual saliva collection kit. So basically you just spit
into this kit and this thing goes to a laboratory where
it gets processed on a DNA chip. Then a report is
generated. This is one of the sample Equinox reports.
So the report's generated and it contains information
that's specific for the person who's ordering it.
So for a fitness trainer, this really only contains
information that's specific for them as a fitness trainer
that will help them optimize your fitness and athletic
performance. So they get this report back, they review
the report, and they meet with you and they discuss ways that
they're going to integrate into your fitness. One
of the ways is that they see that you're predisposed to endurance-based
activities. So while you may have been doing power-based. Power is high intensity for low
durations of time. While you may have been doing that
in the past and seeing limited gains, now you could focus
more on what your genes are predisposing you for.
So you could focus on low endurance which is less intensity
but longer periods of time. Instead of 10, 15 minutes
intervals you're working out, doing cardiovascular exercise for 30,
45, 60 minute intervals. So they're able now to tailor
and personalize their services to your genes. But beyond
that, they also learn that you're predisposed to
osteoporosis. That's another page that's in here that
provides osteoporosis risk. So while a lot of women go
and osteoporosis manifests around the time of menopause.
So around 50s or late 50s. The bone loss -- the thinning
of the bone that leads to osteoporosis -- it starts in
their late 20s and early 30s. So by learning about
osteoporosis risk, a trainer is able to identify a person
who would benefit from resistance training. So that's
doing more weight-bearing exercises and a lot of women
who are in their teenage years and 20s and 30s, they
don't do any resistance training, or they do it
sporadically. Because they just want to focus on
cardiovascular exercise. So now the trainer knows how
important it is for this specific person to do weight
training. And they counsel that person on the importance
of integrating weight training into their exercise
regimen. They integrate it into the training themselves.
And now, this person is able to go and fortify their
bones, so strengthen their bones, especially the ones in
the lower back, the hips, the wrists, the upper arm.
Through specific exercises that they're now doing with
their trainer throughout their 20s and 30s, 40s. By the
time they get to their 50s, those bones are fortified.
They're stronger. And now osteoporosis won't occur for
decades. So the trainer has actually helped that person
go and avoid osteoporosis by integrating in exercises
that previously that person may have been hesitant to do.
And that trainer may have said, "okay, I don't want to
push this person because they seem to be more focused on
cardiovascular exercise so I'll just go with that." So
it provides guidance. Now, it also allows us to go and
take away certain exercises. On the next page after
osteoporosis, it provides an analysis of arthritis risk.
Arthritis, separately, it's analyzed in the hips, knees, and the
wrists as well. So, the genetic report comes back and
the fitness trainer sees that the person is predisposed
to knee arthritis. Very high risk of knee arthritis. So
he starts to pull that person away from activities that
have impact upon the knee. Instead of telling that
person to jog, instead of saying it's all right to go run
on that treadmill after we're done with our session,
they're saying, "okay. Now you have to avoid jogging.
You have to cut down the treadmill or exclude that
totally. Instead focus your cardiovascular exercise on
elliptical, on biking or on swimming." So osteoporosis
they're integrating in specific exercises. Now they're
pulling away and they're changing around modifying their
plan so that they're avoiding causing more harm to this
individual. So instead of that person growing up and by
the time they're 50, their knees are completely gone and
by the time they're 55 or 60 they need a knee replacement
surgery, now we're preserving that knee function. We're
allowing that person to age healthy. So that when they
get to their 50s, when they get to their 60s, their knees
are in much better shape. So that's how this information
is being used today by a health and wellness organization, by Equinox So we've identified
a major problem with our health care system that we're
in the Dark Ages. That we don't really know how to
personalize our services to the individual. We're just
treating people as generic object. But we also have
a solution which is genetic testing. And through that
solution we're able to go and personalize the field
of health care. And the last question that arises is,
"why is this important now?" Why do you need this now?
And it's a 3-part answer. The first is that we need to
integrate genetic testing and predictive medicine into
our health care system now because our health care system
-- our sick care system -- which is true of the entire
world, is unsustainable. It's no different than our
reliance on fossil fuels. That we need to move to a new
renewable, sustainable model of fuel and we need to do
the same thing with health care. We need to find a
new renewable, sustainable model. One that focuses not on
the defensive aspect of just treating disease once it occurs
but instead on the proactive prevention of disease.
And that's what genetic testing now allows. So
we can't wait 20 years. We can't wait ten years. Too much
of the world GDP of every single country is devoted
towards health care costs. It doesn't matter if the
model is American one or the Canadian or the one in
Europe. It doesn't matter what health care cost it is,
it's still a tremendous portion of the GDP and it's only
skyrocketing. So it's unsustainable. And we need the new
model and we need to start enacting that now. Because it's
going to take time for it to spread throughout medicine
for other specialties to go and to adopt it. That's
why we have to start now to save our entire health care system.
Now, the second reason why we need this now is
to save ourselves. Now, prevention is most effective
when it's started early. And we have extremely good
tools now. We have excellent testing. We have great analysis
and we have really amazing reporting. So we have
the tools now to identify risk, to start preventions. And
the earlier preventions are started, the more effective
they are in preventing a disease. As an example, a tragic
example, there was a high school basketball player
-- his name was Wes Leonard -- earlier this year, he was playing
basketball. He went out for the game-winning shot. He
made the shot. He won the game for his team. He went in
the locker room. He was celebrating. This is a high
school basketball player. Celebrating and all of a
sudden he collapses and he dies. Upon autopsy, the
doctors find that he had a condition called dilated
cardiomyopathy. Now the doctors didn't do anything
wrong. They didn't go and miss this. It's just they
weren't looking for it. They didn't know that in this
teenager, they had to go and assess his heart. Because
the majority of teenagers, their hearts are fine. Doctors
don't worry about the heart until late 30s or 40s even
50s. But for Wes Leonard, he had a gene, he possibly had
a gene -- they haven't done genetic testing on him -- but
very likely this condition was caused by genetic abnormality. So he had this underlying condition,
dilated cardiomyopathy, that went undiagnosed. And
that's what led to his death. Now, I frequently test
patients for this condition and a large number of other
preventable sudden cardiac death. So I test them on a
genetic level using this Nexus DNA chip, using just
saliva. At the same time we're looking at all the risks
for different types of cancers, heart disease. We're
also looking at preventable causes of sudden death. Now
I've detected dilated cardiomyopathy in patients. I've
detected other sudden death diseases that are
preventable. They all have complicated names like long
QT syndrome and hypertrophic cardiomyopathy and
arrhythmogenic right ventricular dysplasia. So I've detected these in people.
They go and they see a cardiologist and prevention. It's
very simple preventions. Usually just medications. Low
cost medications are enacted. And sudden death is
avoided. So in Wes Leonard's case one thing that could
have saved him was if he had genetic testing. As you see, It's not like he could have waited
for that. One year, five years.
He needed it last year. So this is not only applicable
to preventable sudden cardiac at the time, it's also
applicable to all different types of cancer from breast
cancer, colon cancer, prostate cancer, skin cancer, such
as melanoma. Applicable to heart disease. It's even
applicable to Alzheimer's disease where we have different
interventions we can enact throughout life which has been
shown to decrease either the risk of that disease or
greatly delay its onset. So we have that ability today.
Now, the third reason why this is so important -- why we
need this now -- is to save our future generations. So
genetic testing now allows us to identify what diseases
we carry in our genes. And by "carry," I mean we may not
have that disease. We most likely don't have that
disease. We have no way of knowing that we carry it.
These are rare diseases. Rare recessive diseases like
cystic fibrosis, Tay-Sach's disease, sickle cell anemia.
So we have no idea that we may carry these diseases, but
if we have a child with somebody who also carries the
same disease, then there's a high likelihood that the
child will have that disease. That's why we see often
people will have a child and that child will have a
disease and the parents will say, "I had no idea that I
carried this. It's never manifested in my family before.
This is the first time." But through genetic testing, we
can now identify what diseases we carry. And geneticists
postulate that each person probably carries three or four
diseases. Each of us in this room right now are carrying
three to four rare diseases. Do you know which ones they
are? Do you know your spouse -- that person you're going
to have a child with -- also carries those diseases. Using
gene chip technology --so this Nexus DNA chip-- , at first we
could screen for a handful. Now we could screen for
hundreds. Just recently we enabled this to gene for over
1,000 rare diseases. Over 1,000 rare diseases all at the
same time. So we could start to identify who's carrying
what disease. Doesn't mean that anything's wrong with
the person. It just means that now they could take
proactive steps to protect their future generations. And
there are clear things they could do to protect their
future generations from inheriting a deadly disease if
both they carry it and a spouse or whoever they're going to have a
child with also carries that disease. So it allows us to
save our health care system, save ourselves, and to save
future generations all today. And this is all possible
because we have this inflection point with the technology.
So the testing now has come down tremendously in price.
It's unlocked a way to access all of our genes. We have
ways to analyze and understand this, because we have 30
years of research. 30 years of genetic research, of
looking at what genes are associated with what disease. But
up until this technology that research has only been
relegated to the library. It's been published then it
goes into the library and it's not in use. But with this
technology now, we can move it out of the library and we
can make it all about one single person -- and that's
you. Thank you. Now, for some questions now? Okay,
great >>Male #1: I'm curious about the rate among
the general population for which you think that
genetic testing can uncover, I guess, traits where
there's actionable advice for how to avoid disease.
Like in the case of cardiovascular disease, it's my
understanding that there are some very rare genetic
conditions that obviously it would be good to test
for, but more commonly it seems to be lifestyle factors that are responsible.
>>Dr. Colby: Right. So there are two parts to that
question. The question was asking about how many
really common diseases that we could do something about can we test for now? Is it only really
just rare diseases, possibly rare cardiovascular
diseases can we test for. Are there really the common ones that we
could learn something about and have that be
actionable? And the answer is, there are actually a
large number right now that we can test for that are
common that is actionable. So we mentioned a lot of
different types of cancer from breast cancer, colon
cancer, skin cancer, prostate cancer -- those are
the big four. Except for lung cancer, which we know
is mainly attributed to smoking, that has much less
of a genetic effect. So those are all highly actionable. If we even learn that a baby is
at risk, we can add preventions throughout life.
For cardiovascular disease, we've seen this example
with heart attack. That heart attack analysis where we saw that
person was close to 70 percent. That was based on
a large number of genes. So we're not just looking
at one gene that has a small degree of risk. We're
looking at a lot of different genes, all of them have
small risks. But together, when a person has a lot of different
small risks, that adds up and starts to build upon
itself. So that does enable us to see very high
risks in people even if they don't have those rare
conditions. So even if they have just more common
forms of cholesterol build up and heart attack risk.
And the same thing with Alzheimer's disease. So
Alzheimer's disease has stolen the minds of an
entire generation. And many of us fear that that
will be our fate. We can now predict risk of
Alzheimer's disease and we could do that quite well.
And we can enact preventions. So there's no way to
stop Alzheimer's disease, but there's ways, clear ways to
slow it down tremendously from ever occurring so
that if we just push it back ten years instead of
affecting a person when they're 75 years, it starts at 85.
That's a large number of golden years they have to
live that are healthy instead of sick. And also with a large amount of money putting
towards research towards pharmaceuticals that are
working to actually cure diseases like Alzheimer's, those ten years may be all that a person needs
to stay healthy until a new medication comes
out. So it's buying time for a large number of people.
So there are a large number of common diseases.
It also falls into a spectrum of autoimmune diseases,
blood clotting disorders, a lot of useful information that unfortunately a lot of people
think that it's just cystic fibrosis or it's just
Tay-Sach's disease or it's just the dilated cardiomyopathy
that I mentioned. But just recently, it really
has expanded out to include a large number of
actionable common diseases. Yes?
>>Female #1: I'm curious to know how static is a
person's genetic profile as they grow, as they
age -- does it change or once you've taken the
profile of a person when they're a baby, does that
still hold when they're older? >>Dr. Colby: So the question is, "Does the
genetic makeup of a person -- the genetic profile
-- does that change with age?" So we mentioned the
example of baby Emily. She had that genetic testing
when she was a baby. If she had genetic testing
again when she was 50 years old, would that information
change? Would that raw data change? And the raw
data -- so the letters themselves -- do not change.
At the moment of conception on the moment of
death -- those raw data, those letters -- of the genetic code
are the same. Those things around our genes that
turn our genes on and off -- those change. It's
called the epigenome. The epigenetics but the raw
data -- what we're able to acquire now with the DNA
chip with whole genome sequencing -- that does not
change. So with whole genome sequencing, if we
sequence a newborn, we get those 6 billion letters,
they really never need to have a similar type of
genetic test again. We have all that data. It's
all there. Now it all comes down to analysis and
reporting of that information. Female #1: The other question is will their
propensity to certain diseases change because certain markers come on and off based on certain
environmental factors they're dealing with? >>Dr. Colby: So so the propensity for disease
based upon just the raw data will not change. But
their propensity will change because almost all
of these common diseases -- heart disease, the cancers,
Alzheimer's -- it's not either only genes or only
environment, it's a combination. So by learning about our genetic risks, we're able to modify
our non-genetic risk factors -- lifestyle, medications,
foods we eat, exercises we do. So that will change
the total risk. Now, people though -- let's say a
person goes and smokes -- that will turn on and off
certain genes that are protecting or increasing a
person's risk of cancer. So they can modify if
genes turn on and off, but not the raw data -- not
those letters themselves. That is going to stay
the same. Male #2: My question is around the accuracy
of genetic testing and actually identifying whether
something that somebody is predisposed to is going to manifest
itself versus somebody who's not predisposed to it
genetic testing will come out. So if you took ten people identified
through tests testing that might have something, what's the likelihood that they actually end
up showing it versus ten random people?
>>Dr. Colby: Right. So the question is about the
accuracy of genetic testing data. Are these predictions that are being made -- those risk
predictions -- how accurate are they? And the
accuracy is really disease dependent -- disease or
trait dependent. It differs depending on the amount
of research that's been conducted about those genes
that are associated with that disease. So for
diseases like heart attack or diseases like Alzheimer's, for many types of cancer or even
many types of autoimmune diseases, the accuracy
is very high right now. For other diseases like brain
cancer, pancreatic cancer -- different types of the
rarer cancers -- the accuracy is quite low. That
we only have a few markers and is they're not very
predictive. Now, it's true that over time these
predictions are going to only improve. That we're
going to learn that there are more genes. We're
going to integrate that into the analysis. So the
analysis is going to change. But that's true of all of
medicine, that there's no component on medicine that
is locked, that is concrete. Medicine is always changing. It's always evolving. And genetics
and predictive medicine is no different. And as an example,
CPR was practiced one way for about 100 years.
And just recently it came out that that was not the
correct way. That it could be done better. So CPR
guidelines were completely modified. And now, that
old way is no more. And we have a new method for
CPR. So that doesn't mean that CPR -- all the people who
were performing CPR in the 60s and 70s and 80s
should have never been doing it. It just means that,
as part of medicine, things are going to improve and
they're going to get better as new research comes
out. That will certainly happen with genetic testing as well.
>>Female #2: I have a question. Well, the first
question I wondered is for some of these rare diseases now that you're able to test people
who don't suspect they would have a rare disease,
are you finding that they're more common? Or is
it kind of upholding the original estimates?
>>Dr. Colby: So we're finding that a lot of times it is more
common in terms of people who carry those diseases.
Just because we never before had the ability to
actually screen for those. So we're finding that
people do carry some of the more common rare diseases, like Tay-Sach's or cystic fibrosis.
We're identifying them then saying, "well, my family
has never had a case of that. I had no idea that
was in my genes." And according to statistics, because
all this was really was just based on statistical
computations in the past in terms of saying, "well,
this many people have it, so therefore we could
suspect that this many people probably carry it,"
but we're finding out that those rates are a bit
higher now. >>Female #2: Okay?
>>Dr. Colby: But we're also right at the beginning of
this. So we're just unlocking that door on the
number of people with rare diseases. And identifying them and counseling them on ways
to avoid harming future generations.
>>Female #2: Okay. Thank you. I guess the last
question then is you've probably sold a bunch of us
on getting our whole genome mapped. But what do we
do? I've talked to my geneticist. He says, "it's
going to probably cost you a couple thousand dollars. Insurance probably won't cover it.
Do you have any advice for us?"
>>Dr. Colby: So there are two components. The question
was that you're interested in genetic testing. You
want to potentially get your whole genome sequenced.
Where can you go for this? What's the advice surrounding having this be actionable now.
So in terms of genome sequencing, that is still
in the thousands. So that's getting all 6 billion
letters. Some individuals are doing that now. But it's
still really very much in the research realm. That
they're using it in research participants. For
people who are true techies that have the money,
yes they're able to get their whole genome now. The
issue is being able to analyze and use that information rather than just have it be cool
that you have your whole genome. So if you are
interested in that, then a lot of geneticists, doctors, they could go through a company like
Illumina down in San Diego which is an excellent company that provides sequencing and has done
it before for clinicians and actually detected some
rare diseases in children and saved their lives
with this technology. There are other companies,
too, that have gone public recently. Complete Genomics
and Biosciences have also provide that service.
There's Life Technologies also in San Diego -- provides
Ion Torrent service. So there are a lot of services
out there. Even GE is working on a technology
and IBM as well. So you Googlers need to get on the
sequencing, too. So the sequencing is a bit away
off. I see it as being two years off from when it's
really cost effective and useful on a clinical level. But the DNA chip now is accessible
to all of you. So whether it's the Nexus DNA chip which
we make only available through a professional,
whether it's a fitness trainer or your doctor, or
your geneticist. Any doctor around the world can
could you go and order this testing through us.
Or it could also be -- let's say you prefer to not
go through a professional -- you could go online
to company like a company called 23 and Me and you
could order genetic testing as well. The difference is you look at the reports, most of these
companies have sample reports. You look at the types
of information, at the different types of diseases,
because they don't test all for the same ones. And
you see what is most important to you. What you
want to get out of it. And then, you could decide
what is the best service? Do you really want a
professional involved? If so, then that kind of narrows
it down to certain companies that provide that
service. Or do you only want to go over the Internet and just get it personally? And that
also narrows it down to companies. Sure.
>>Female #3: Thank you very much. >>Dr. Colby: Thank you.