Hello.
I'm Barbara Biesecker, a genetic counselor
from the National Human Genome Research Institute
at the NIH.
I'm here today to talk to you about genomics and how
it can help you lead to a healthier you.
I wonder what you imagine when you hear the word "genomics."
Is it a DNA double helix?
Or is it people working in the laboratory?
Using their education to analyze complicated genetic information.
Or do you picture new robotics to undergoing DNA sequencing
Or a forensics lab trying to get to the bottom of a crime.
In fact, all of these venues
are a way to use genetic information.
But today I'm going to ask you to do something different,
I'm going to ask you to hold up a mirror and think about
how genetic information, genomic information can be
relevant to you today, in particular,
how it could help you lead to a healthier lifestyle.
Genomics affects all people.
It's estimated that there are three billion DNA letters
or base pairs in our genome and all of us have a complete
genome inside the nucleus of most of our blood cells.
Scientists refer to something, human genetic variation,
as the difference between one individual and another.
In fact between any two individuals on this planet,
we share 99.9 percent of our DNA in common.
That leaves only point one percent to attribute all
the differences between two individuals both in how
they look and whether or not they're ill or healthy.
In addition to human genome information occurring
in the population, we like to think
about how it occurs in the family.
And we use pedigrees, diagrams of family
history information, in order to put that
information together.
This diagram in front of you indicates men using a square,
this is the father, and circles for the women,
this is the mother and grandmother.
Family history information can help answer questions like,
"Did I inherit my mother's brown eyes or my father's hands?"
Providers like to use pedigrees, or family history information,
to try to determine whether or not individuals who are affected
with certain diseases predict disease risk.
In this pedigree you can see that the young lady
at the bottom has a brother with diabetes,
a mother with diabetes and a paternal grandmother
with diabetes.
All those things taken together suggest that she's at
increased risk for developing diabetes herself.
In addition to using family history information
to predict disease risk, health providers hope
that eventually they'll be new technologies
such as this microchip being held in this hand,
that will contain all of our genetic information.
In the future one imagines that you would go to your
health care provider and he would look at that information
on that gene chip and make predictions
about future health risks.
But right now this is not yet possible.
So why should we think about or study genomics
if this is part of the future and not yet available?
Well let's talk about a particular example.
Perhaps you've heard of T-Boz, a famous R&B performer.
You might think that her life is a breeze.
She's a famous performer, she's gorgeous,
she's an excellent singer and dancer,
but in addition to all these qualities,
she has sickle cell anemia.
[T-Boz] Hi!
I'm T-Boz and I have sickle cell disease.
It can be painful and frustrating,
but please don't give up.
Talk to your doctor about effectively managing
sickle cell disease and the potential
complications related to treatment.
[Barbara Biesecker] She shares this diagnosis with as many 80,000
Americans who also have sickle cell disease
and it's common enough in our country that
two million Americans are estimated to be
carriers of the condition.
This means that they're not affected themselves,
but that they could pass that risk onto their children.
Sickle cell disease is what we call a single gene disorder.
This mean that it only takes abnormalities
in one gene to cause the disease.
We call it Mendelian inheritance when
it's only a single gene and we can study and understand
how that inheritance occurs.
When sickle anemia occurs it causes the blood cells
to become sickled or curved and that can lead to crisis,
painful crisis, and disease.
This is the pedigree that illustrates
autosomal recessive inheritance.
This is the way that sickle cell anemia
is inherited and you may remember from your studies
other autosomal recessive diseases
like cystic fibrosis.
When we talk about autosomal recessive inheritance,
both parents are carriers of the condition,
they're not affected themselves,
but each one of them carries a non-working
copy of the gene, so that each time
that they have children, there's a 25 percent
chance that they'll, that they'll pass on
the non-working copy of the gene,
a 25 percent chance that they'll pass on
the working copy of the gene, and then a 50 percent chance
that they'll pass on one copy so that
that individual is a carrier like them.
If you look at this particular family,
one of their girls is a carrier,
one inherited both non-working copies
and is affected with sickle cell anemia,
and the other, their son,
is not a carrier, he cannot pass it on
to his children nor is he affected himself.
Unfortunately single gene inheritance is something
that we understand very well.
But common disease or what scientists call
complex disease is literally more complicated
than single gene inheritance.
These are the conditions that you might know about,
things that occur in your family,
common diseases, cancer, high blood pressure,
heart disease...
even depression.
In complex diseases, genetics still play
a role but there's also a large environmental
component that we're just beginning
to understand that contribute to the risk
for these diseases.
So when we give people estimates of how much
their risk is increased, they're much smaller
than they are for single genes
and they're much more complicated.
Tests are being developed now so that we can offer people
predictive information about common disease,
that is, whether or not
their risk is higher or perhaps lower,
as a result of the genes that they inherited.
But whether or not people want that information,
whether they want to have a genetic test,
is something that's largely hard to decide
and very uncertain.
Let's take the story of Russ.
Russ is in his 20s and he had a routine blood test
that indicated that he had a very high cholesterol level
for someone his age.
He began to do a little digging into his own family history
and he soon learned that there was a significant family history
that might predispose him for early development
of heart disease.
He'd already known that his father had died
of heart disease in his early 60s,
but after he did a little bit more
digging in his family history, he learned that his father's
brother and two sisters, his uncle and two aunts,
were also affected with heart disease,
placing him at increased risk.
He decided to share this information
with other family members so that they could discuss
it with their health care providers and so that
they might be able to find out whether
or not they themselves had high cholesterol
and might want to take action.
In Russ's case he was able to reduce his cholesterol level
by increasing his exercise and by taking medications
and changing his diet.
When he thought about what this information
might mean for his new son, Russ Junior,
he investigated his wife's family history and learned
that her mother as well has high cholesterol.
So his family is planning early that his son Russ
gets started early on a healthy diet for his heart.
You too can you look at your own family history
and think about what it might mean for your own health.
There's a new tool available through
the US Surgeon General's office and the
Department of Health and Human Services
called "My Family Health Portrait."
This tool is available to you on a web site
https://familyhistory.hhs.gov.
You can enter your family history information
but that information will only be entered
into your own computer, it will not be available
to the government so it's private.
You can use that information to share your health risk
information with family members or with your health care
provider who might want to use it to make
some recommendations.
Remember the first part of building a family history
is talking to relatives.
Find out what's going on in your own family
history and the best way to begin is to start
with a family gathering, a family picnic,
a reunion or perhaps a holiday dinner.
In addition to gathering family history information
to predict disease risk, there are also new genetic
tests that are available.
But new genetic tests are filled with uncertainty
and it's never clear whether or not one
ought to pursue a genetic test or not.
Let's consider some of the reasons why somebody might
choose to undergo genetic testing and then contrast
that with some of the reasons that somebody
might choose otherwise.
Perhaps the most important reason is that somebody
might want genetic risk information,
they might want a prediction about their health risk
so that they can make lifestyle changes
or get treatment in order to reduce that risk.
In addition for diseases more like sickle cell
anemia or cystic fibrosis that we mentioned earlier,
people may want to get information in order
to learn more precisely about the risk of passing on
a disease to their children.
And genetic test information can help with that.
In addition if you have a strong family history,
such as Russ's, you might want
to undergo genetic testing in order to reduce
your anxiety about developing a condition
in the family.
Let's contrast that... those compelling reasons
for having genetic testing with those reasons you might
choose not to have a genetic test.
For a lot of conditions today even though we could
make predictions using genetic test information,
there's no good treatment or prevention strategies
available.
Two of the most common examples are very rare disorders,
Huntington's disease and very rare
inherited forms of Alzheimer's where we can predict
risk more accurately, but there's nothing
that we can do in order to help people prevent
the disease from happening.
That maybe a reason you would choose not
to have a test.
There's also concern that a test result might
result in false reassurance and by this we mean that
just because you get a reassuring test result,
does not mean you have no disease risk.
In other words, you might choose
to have a test that would predict your risk
for developing breast cancer.
Even if that test result is negative,
you don't have the increased risk factor,
it doesn't mean you won't ever develop breast cancer,
it just means risk is lower.
In addition people may consider the potential risk
for genetic discrimination.
By this we mean in particular the risk
for genetic discrimination related to health insurance.
Right now there's no federal legislation that protects
all individuals from being discriminated against as their,
as a result of their genetic makeup.
We hope that there will be in the near future.
Further, genetic information is transmitted in families.
So even though you, somebody like Russ,
might decide that you want your family history information
in order to predict your risk, somebody else in the family
might decide that they don't want to undergo genetic testing,
they don't want to know their risk information more precisely.
It's not going to change their health related behavior,
they're not going to do anything any differently
and it might in fact only cause them to be more anxious.
So in a certain family, some people may want
information and others may not.
And in one family it's very hard
to keep information from one another.
And so if one person undergoes testing,
it often provides information about others.
So if decisions about genetic testing are
so complicated, who is available
to help us?
Well there is a group of genetic health care
providers called genetic counselors,
I'm one of them.
And we're in fact trained to help people make
informed choices about genetic tests
and about other aspects of genetics and genomics
that can be complicated and leave you with
a great deal of uncertainty.
Genetic counselors primarily work in a clinic setting.
They might help people make decisions about
whether or not they want a predictive genetic test
in order to get a better idea of what their risks are.
They may also take a family history
and use that pedigree to make risk predictions
about the chances for having an affected child
and talk through with people what
their reproductive options are.
Further today, genetic counseling
students are learning research methods,
not just laboratory research methods,
so that they can interpret tests,
but research about how people make decisions and how they live
with the outcomes of those decisions
so that we can improve the ways that we help people
to make informed choices.
We think that this type of evidence is valuable
and important in helping to ensure that people made
the best possible decisions for themselves.
Recently genetic counselors have also had an opportunity
to play a role in society at large.
A number of genetic counselors were involved in responding
after the 9/11 events in New York City.
They were involved in helping to collect family history
information in order for families to be able
to identify missing relatives.
Colleagues at the National Human Genome Research Institute
were instrumental in putting together
a brochure for these families that helped them understand
how the DNA identification worked and what its intent was.
Similarly our international colleagues were involved
in follow-up to the disastrous tsunami in Asia.
These international colleagues similarly
helped to identify the remains of missing victims.
I myself was fortunate enough along with colleagues
and genetic counseling students to recently
travel to Louisiana.
Originally there were 11,000 missing persons
following the floods that followed on the heels
of Katrina, there are currently
about 2,000 individuals still at large.
We were there to help families deal with
the uncertainty of whether or not
their relative had died and to understand
the DNA sampling efforts that were undergoing
in order to try and help identify remains.
This is a very important role for genetic counselors
in helping people recover from this disaster.
In addition to these variety of different settings
that genetic counselors work in, in the clinic,
in research and in society at large,
there's a number of new ways that genetic counselors
are needed in this new genomic era
as additional technologies develop.
I hope that you'll actually consider becoming
a genetic counselor.
In fact we need more men and more minorities,
so consider looking into it.
It's very hard work but it's also very
rewarding and it's rewarding because we get to help people,
people like you, understand and use
genetic information, genomic information,
in a way that will improve your health
and your quality of life.
Thank you.