(Music)
Narrator: Old or young, big or small, animal or human...
every living creature has a genome.
It’s a collection of tightly packed bundles of DNA.
Those bundles called chromosomes, contain
thousands of genes that carry the information needed to
make and maintain all of our bodies’ cells. Think of it as a
master instruction manual.
Now, at the National Institutes of Health, researchers are
looking deep within this manual to unravel the mysteries
of human health.
They’ve embarked on a groundbreaking new study
called “ClinSeq” that may very well change the future of
modern medicine. And ordinary people are helping
to make it happen.
52-year old Jonathan Graham is one of the
volunteers who’s agreed to have his genes sequenced.
He saw the project advertised in a local newspaper, and
decided to come in and roll up his sleeves to help.
Jonathan Graham: … thanks, Paul.
Narrator: He sees it as a unique opportunity to further science,
and to gain some invaluable insight into his own health.
Jonathan Graham: Well, genetic information, it’s always something you don’t
get in a physical. Typical annual physical they give you
a cursory examination, and they let you know that yeah,
you have heart rate that’s not too high, they make you do
blood cholesterol, but this seemed like an opportunity to
get a little more detailed information, more of a work-
up, something almost like an executive physical.
Narrator: Right now, the ClinSeq project is using genetic
information to zero in on heart disease.
Dr. Les Biesecker is the principal investigator for the
project.
Les Biesecker: Heart disease is an important medical problem and
it’s a good model for starting with, although ultimately we’re
interested in looking at all genes and all conditions in
these patients. But heart disease has many of the
attributes that we’re looking for such as high heritability,
plenty of medical interventions that one can
implement to deal with conditions in a patient.
Narrator: So over the next two years, the ClinSeq research team
hopes to enroll a thousand people and scan their
genomes for warning signs of coronary artery disease.
Les Biesecker: We can take a set of subjects, human subjects. Bring them
into a research facility, acquire a data set that
includes every gene in their genome, and use that to ask
questions that are specific and powerful as to how we
can change that person’s individual risk for developing
a disease overtime.
Narrator: The researchers will look specifically at genes they
know are linked to heart disease, plus some they
suspect might be involved. The volunteers can be
healthy or have known risk factors for heart disease.
Eric Green: It makes a lot of sense that for doing a thousand
references…
Dr. Eric Green heads the high-tech sequencing lab
where the work is being done.
Eric Green: We are as much interested in looking at variants that
perhaps give you a very healthy disposition as we are
in looking at variants that give not as healthy characteristic,
and we’re going to be studying both.
Narrator: Take Jonathan. He runs his own landscape design firm.
He eats right, stays active, and likes to think he’s in
pretty good shape. But he admits: you never know.
Heart troubles run in Jonathan’s family, and he
wants to find out more about his risk.
Jonathan Graham: You get some information in exchange for being willing to
provide genetic information, family medical background,
and be poked and prodded, and they give you feedback
on your current and possibly future conditions, which
sounded like a win-win.
Narrator: The project is open to men and women of all races and
from all walks of life. But participants need to be
between 45 and 65 years of age and have a primary care
physician. They also should not have smoked for at least
the past year.
Of course a real desire to learn about your
genetic make-up will also come in handy, since the
study may last a decade or more.
Eric Green: These are individuals that we plan to follow for many years,
with the idea that when the technology is ready, and I
think that may not be that far away, we may sequence the
entire genome of all of these individuals, and probably
continue to bring them back to the clinical center to be
able to do subsequent clinical studies of them.
Narrator: If you’re selected for this study, here’s what you can
expect. First you’ll be asked to make an initial visit to the
NIH Clinical Center in Bethesda, Maryland to
undergo a series of simple tests and evaluations.
Les Biesecker: We get a snapshot of the current state of that person’s
heart health, if you will, and we can use that as the
starting point, but only as the starting point, to begin to
dissect their long-term risk of having heart disease.
Narrator: That snapshot will include an echocardiogram and
electrocardiogram, both painless ways of peering at
the inner workings of your heart.
Cat scan tech: Take a deep breath in, hold…
Narrator: You would also have a type of X-ray called a CAT scan
taken of your coronary arteries.
Les Biesecker: In most patients who have heart disease, the thickening
of the arteries that is atherosclerosis, is
accompanied by the deposit of calcium flecks within those
blood vessels and X-rays are very good at seeing those
calcium flecks.
Nurse: Tell me your date of birth again…
Narrator: Well, not as dramatic as the scans, one key part of the
process will be drawing a small amount of your blood.
From those blood samples, researchers will purify DNA
and send it to the NIH Intramural Sequencing
Center. Sequencing is a complicated process, and the
precious samples will change hands many times.
Technicians like Casandra Montemayor prepare the
DNA so researchers can get the information they’re
looking for out of it.
Casandra Montemayor: The process starts here and, with the genomic DNA, and
then we actually end up passing it to production, who
then passes it to the sequencers.
Narrator: Initially, the team will be looking to sequence between
200 and 400 genes that may be involved in coronary artery
disease. They’re hunting for important variants or genomic
changes that may mean someone’s at increased risk.
Eric Green: There’s probably a handful of variants I could specifically
look at that might give some insights about predispositions
to specific diseases or some likelihood of certain kinds of
disorders such as cancers.
Narrator: Making sense of it all is no easy task. Genetic scientists
here will need to search hard to find those all-important
telltale genomic changes.
Les Biesecker: What we’re looking for are dramatic changes or severe
changes in the genes and the DNA, that will cause the
person to have a high likelihood of developing the
disease.
Narrator: This will be one of the first studies in which DNA
sequencing results will be communicated back to
individual patients, provided of course that the researchers
have a strong measure of confidence in what the data
reveals.
Les Biesecker: Most genetic and genomic research, especially large-
scale genetic and genomic research, isolates the patient
volunteers, the subjects of the studies, from the individual
outcome of the study, we want to break with that. We
want the subjects involved in the study from beginning to
end.
Narrator: So, what are the benefits of being involved? There are
many. You’ll be tested free of charge for diabetes and high
cholesterol. You’ll also receive, free of charge, a CAT
scan that could reveal signs of coronary artery disease.
But above all, you may get information that is critical to
your long-term health, and the health of your entire
family.
Flavia Facio: People are generally very enthusiastic about
participating in the ClinSeq study. I think that they
understand that this is a very novel and cutting edge study
and they are excited to be part of a project of this nature.
How did it go this morning, the blood draw?
Jonathan Graham: Flawless…
Narrator: Flavia Facio is the genetic counselor for the ClinSeq
project. It’s her job to make sure participants understand
what’s happening. She also works with them to develop
their family’s health history.
Flavia Facio: The family history may actually provide a context, a
framework, for what we find in these people’s genes. So
when I review their family histories with them, I’m
looking for patterns. I’m trying to see if there is a
condition that may look like it’s running in the family.
Narrator: Are there any drawbacks to taking part? There are only
minor risks associated with undergoing these tests.
Some people experience slight pain or minor bruising
when they have blood drawn.
There is a small amount of radiation exposure during the
CAT scan. And in some cases, scans may produce
results that are hard to interpret.
But perhaps more significantly, there is also the
possibility of an emotional or psychological toll, depending
on what the research uncovers.
Les Biesecker: People vary enormously in their view of how much they
want to know about their genes and in reality how
much they really want to know about what that might
be telling them about their future.
Echo tech: It’s just looking at how your heart’s contracting overtime.
Narrator: For Jonathan Graham there are no doubts. He says he’s
thrilled to be a volunteer because ultimately he may be
able to keep himself, and his children, healthy.
Jonathan Graham: If I become identified as possessing potentially
something that could be a risk factor for a future condition,
they get a heads up, they get a genetic heads up, saying
you need to be aware of it, be tested to see if you have it as
well, and then take appropriate steps to head off
any potential complications.
Narrator: And ultimately, it’s not just you and your own family who
may be helped. In the end, this ground-breaking study
may offer new hope to millions of people at risk for
heart disease, and help all of us to lead longer, healthier
lives.
Les Biesecker: The entire premise of personalized medicine is that
we can take that information and implement strategies to
reduce their individual risk overtime. So we’ve been
talking for years about how the genome project is going
to revolutionize medicine and allow personalized
healthcare. And what ClinSeq is about is making that a
reality.
Narrator: If you want to find out more about the ClinSeq project, or
to see if you are eligible…visit
our website: genome.gov/ClinSeq