From the moment we're conceived,
our genes encode in us,
every instruction our bodies will ever need.
These genes built our organs, our muscle, our brains.
They help us grow and keep us healthy.
But the tiniest deviations also make us sick.
Many of us are carrying these deviations
without ever knowing it.
And this women wants to find those problems early.
Before it becomes to late.
My name is Carrie Blout,
and I'm a preventive genetic counselor.
We are here to celebrate the completion
of the first survey of the entire human genome.
With this profound new knowledge,
human kind is on the verge of gaining
immense new power to heal.
In the early 2000s, scientists decoded
the first human genome.
Sense then, we've discovered the genetic footprint of
thousands of illnesses.
And if you have a health problem,
or come for a family with health problems,
your doctor might have ordered a DNA test.
To diagnose and treat you.
But it's only very recently that hospitals
have started screening the genomes
of seemingly healthy people.
Healthy people like me.
The goal of these screenings,
is the holy grail of modern medicine.
To map each persons risk of disease.
In order to treat conditions early,
or prevent them from ever developing.
Today, I'm heading to Boston to get my own DNA screened.
In our studies, we're finding that there's
10 to 15 percent of people,
walking around that we would expect,
to either have either symptoms of a condition now,
or to develop it in the future.
Carrie has a masters degree
in genetic counseling.
Four years ago, she joined a research program
affiliated with Brigham and Women's Hospital,
and Harvard Medical School.
The program has been screening
the genomes of healthy people.
And through her research, Carrie's helped
more than a 100 patients makes sense of their results.
Sometimes I'm telling them really scary stuff.
That they just weren't anticipating.
One example is a women who
had a variant for breast cancer.
She had no idea she was at risk.
She got screening for that.
And actually found out she had early breast cancer.
Which she wouldn't of been found to have,
that early anyway,
if we had not initiated things.
Early findings like this
prompted Brigham to quietly open
the Preventive Genomics Clinic in November last year.
So why does she want to be tested?
Really what's her motivation here?
It's led by geneticist Dr. Robert Green.
And Carrie has seen it's first few patients.
It's one of the worlds only clinics
offering DNA testing for preventative purposes.
I'm here to become it's seventh ever patient.
Hi Aki.
Nice to meet you.
Before we get started, can you tell me
a little bit about what drew you to this clinic.
And why you're interested in preventive genomics.
I thought about it a lot and
if there's something that I can prevent,
then I think I'd rather know now.
Okay.
So I'm a little worried I'm opening a Pandora's box.
Okay.
But I'm excited to do this.
Carrie is trained to guide patients
through the complicated world of DNA testing.
And that starts with helping patients choose the rite tests.
You might have even tried one of them you can take at home.
Like 23 and Me.
But 23 and Me looks at less then one percent of your genome.
To identify your risk of developing just 13 conditions.
The workup I'm getting, will sequence
virtually my entire genome.
Placing a special focus on about 3700 genes,
that are associated with more than 2500 conditions.
Which means if I go through with this test,
I could find our a whole lot more.
How would you feel if you found out
that you were at risk for something
that we didn't currently have a treatment for.
That you might develop later in life.
Even if I knew now that I'd only live till 40,
I think I'd want to know that.
So I can plan my life around that.
I'd want to make sure that
my wife would be okay after I died.
And I think I'd still wanna know.
Right.
And you're exactly the type of patient
that we want to see in this clinic.
Some people really just don't wanna know.
And some people are really information seekers.
And want all the information they could get.
So this is a good test for you.
Open your mouth wide, say ahhh.
I'm just gonna check your reflexes.
And after Dr. Green checked in,
Take a seat here.
I got my blood drawn.
For all this, by bill today will be just over $4000.
Which includes this hospital visit,
as well as the cost to sequence my DNA and analyze it.
It's a lot.
Sense most of it isn't covered by insurance.
But take a look at how much the cost
of sequencing has come down over the last two decades.
This is why genetic testing has become so widely available.
And why the professionals who help patients make sense
of them are now in such high demand.
Salaries have soared.
With genetic counselors earning a median $80,000 last year.
That's more than twice the median pay, in the US.
Great, you're all done.
Your results will take about two to three
months to get back.
So we'll give you a call and set up
that follow up appointment for when they're ready.
And while I've settled back
into my life in San Francisco,
machines extracted the DNA from the nuclei of my cells.
Then more machines read the six billion base pairs
that make up that DNA.
Which geneticists then analyze for clues of diseases.
Then two months later..
[ Carrie On Phone] Hi, this is Carrie Blout calling,
your genome report should be back soon.
So I wanted to schedule an appointment
to see your for results.
If you could give me a call back when you have a chance.
Thank you.
And I made my way back to Boston.
When I'm returning results to patients,
there's not always a treatment or a cure
for something that we find.
And those conversations are very difficult.
Because we're telling them something that
could affect their life.
And I think the most difficult part
is when someone is really stressed,
and I can't make it better.
It could be very hard.
But you're also helping them.
And that over powers any of the challenges of the job.
Hi Aki, how are you?
Good to see you again.
Good to see you too.
Lets go to my office.
Sure.
I want to reassure you.
We didn't find anything that's scary.
What a relief.
Lets got through what we did find.
So the top report called Monogenic Disease Findings,
that would be if we found something in your rite now,
that we thought might impact your health.
Either now or in the near term future.
Basically we didn't find anything in that category.
What we did find in you,
is that you have three carrier variants.
This is the type of variant
that when you go to have children,
if the sperm had the same variant in it, as your egg did,
the child could have it.
I see.
One of the things that you're a carrier for
is Xeroderma of Pigmentosa.
It is a photo sensitivity condition.
So you're very sensitive to sun.
Even in mild sunlight,
you could get blistering or burning in the sun.
But for this gene, it's actually one in 4000.
So one in 4000 is the chance that
my child would have this disease.
Exactly.
So, pretty rare.
I was really nervous coming into this meeting today.
But what do you think I should tell my wife?
I think you can tell her that it was good.
That you had a boring genome.
Which is the kind that I like to see.
Before this goes mainstream,
Carrie and her colleagues still have much to prove.
Will the price of these tests be worth the lives they save?
Will certain results make patients anxious?
Will they lead to unnecessary procedures?
But with enough research,
this technology could become standard for all of us.
Maybe one day we'll all get sequenced.
Maybe even at birth.
And have that information to inform
our healthcare over time.
Then we'll have a lot more
genetic counselors like Carrie.
Helping us prevent what we can.
And plan for what we can't.
They'll guide us from one milestone, to the next.
Through childhood...
Aki Ito.
Adolescence.
And adulthood.
All the way to old age.