Nova (1974–…): Season 39, Episode 7 - Cracking Your Genetic Code - full transcript

Those in the know contend that soon gene sequencing will be cheap enough that anyone can have their genome deciphered. This program shows how confusing this knowledge can be as people struggle with how to chart their lives and protect their privacy. But it is also leading to promising treatments for previously intractable diseases and patients with mysterious illnesses.

Are you wondering how healthy the food you are eating is? Check it -
This is no ordinary flash drive.

From a small company
called Knome,

it contains a complete
digital record

of a person's genetic code...
All six billion letters of it.

Your DNA is what makes
you unique.

It governed how you grew in the
womb and how you look today.

And until now, only a few
hundred people in the world

have had a chance to see
their whole genome

and try to understand it.

- Few could afford the cost...
- $350,000... just three years ago.

But that's changing.

It's almost amazing
to be able to say

that each of us
will have the chance

to have our complete genome
sequenced for less than $1,000

in the next four or five years,
but it's true.

The result could be
a revolution in medicine:

using genetic information
to diagnose and cure disease.

If you go back

and you look at some of the home
movies that we took

and you see Alexis falling down,

and you look at her now
and you think,

"It's unimaginable that she was
actually that same child."

Whole genome sequencing really,
really saved Alexis's life.

But it could also lead

to wholesale invasions of
privacy and an ethical quagmire.

There's a lot of fear
about, say,

insurance companies

or other professionals being
able to access that data.

And then the company
geneticist says,

"He has an increased risk
for cancer."

"Okay, just don't interview him.

He'll never know."

Do you want that?

Because that is
a potential reality.

Thousands of years ago,

the ancient Greeks were given
some famous advice:

"Know thyself."

Today, when those words are
a biotech company motto,

they present a new kind
of challenge.

Just how well do you want
to know yourself

in the age of personal genomics?

Up next on NOVA,
"Cracking Your Genetic Code."

Major funding for NOVA is
provided by the following:

Supporting NOVA and promoting
public understanding of science.

And the Corporation
for Public Broadcasting

and by:

Major funding for "Cracking Your
Genetic Code" is provided by:

Additional funding is provided
by Millicent Bell through:

And the George D. Smith Fund.

A few years from now,
you may boot up your tablet

to find a life-changing report.

A report on your own
personal genetic code,

on the thousands of genes
that spell out

your body's instructions.

Deciphered, your genes
will reveal your risks

for one disease after another...

Those you may get yourself and
may pass on to your children.

How will it feel
to have this information?

You may find out
sooner than you think.

We're entering an era

of unprecedented self-knowledge.

We are really beginning
to understand

the living processes that
constitute ourselves

where we can begin to intervene

to take control
of our own future.

Genomics offers us the chance
to look in the most precise way

at what the causes
of illness are

and how to prevent
and treat illnesses

with that information.

And we have that opportunity now
in front of us.

This could be your future.

A new kind of personalized

based on your genetic code.

One that predicts risks,

so you can stop diseases
before they appear,

if there's a way
of stopping them.

But what if you can't?

What if you have

a gene mutation that says,

"Doesn't matter how you live
your life,

"doesn't matter
what drugs you take.

You will get this disease and
probably before 50 years old."

Not everybody can handle
genetic testing.

And this information affects

the way you live the rest
of your life

if you are going
to get a disease.

But while some sound
notes of caution,

the science is rushing ahead

and is now taking on
medical challenges

once thought impossible.

Consider Andrew Schmitz,
a bubbly five-year-old

who has no idea his life
hangs in the balance.

It started with high fevers
and joint pains.

And then July
he had his first stroke.

And then he had two in October

and one in November that
required brain surgery.

And then his last one,
number five, was a week ago.

Andrew is at the center
of a medical mystery.

His parents have consulted
dozens of specialists,

but so far his symptoms
defy diagnosis.

He gets steroids
to calm his immune system

and has been
on and off chemotherapy.

Nothing seems to work.

At Children's Hospital
in Milwaukee,

Andrew's pediatrician,
Dr. Sheetal Vora,

assesses his condition
and the toll being taken

by the drugs used to treat him.

Can you look up all the way
to the ceiling with your head?

It pains you because
I've been there with this family

from the beginning and I've seen
the ups and downs

and told them the brutal truth,

that you use all these

but they also can have
their harms as well.

Does the light bother you?

Desperate for a diagnosis,

Dr. Vora has brought in
geneticist Howard Jacob.

Right now we don't know what is
the cause of his disease.

It's possible that
it's environmental.

It's possible he had some type
of an infection.

In general, though, somebody
else should have it.

Why doesn't anybody else
have it in the family?

What about in the community?

So a more plausible explanation
is that it's probably genetic.

So if it happens to fall
into a gene...

If Jacob is right, there's a
chance that Andrew's condition

could finally be diagnosed,

opening up the possibility
of a cure.

So we will do everything we can

to sort through his genome and
see what we can find in there.

To fulfill this promise,

Jacob will be putting Andrew
in a select group,

those who have had
their genomes... that is,

all the genetic material
contained within their cells...

Read out,
letter by chemical letter,

six billion in all.

To start the process,
a nurse draws Andrew's blood.

The next day,
it arrives at Illumina,

one of a handful of companies

that reads,
or sequences, genomes.

In the lab,
the blood is processed

to extract its genetic material.

As proteins and fats
are washed away,

delicate fibers clump together.

This is DNA,
life's master molecule.

Next, the DNA is sheared
into fragments,

making it easier to sequence.

It is such a complex task

that sequencing the first
human genome took 13 years,

$3 billion
and hundreds of scientists.

When the first draft
was finished in 2000,

it was hailed as one of
humanity's great achievements.

This is all the instructions
there are,

telling you all
the tricks cells use

to actually go
from being a single cell

to a whole grownup individual.

All those recipes are written
in exactly the same language.

A language whose alphabet
consists of four chemicals,

each known by its initial:
A, T, C and G.

Strings of these
chemical letters

spell out some 20,000 genes
on 23 pairs of chromosomes.

Genes code for proteins,

molecules that do most
of the work in our cells

and help build parts of our
body, from muscles to hair.

And in the world of genes
and proteins, spelling counts.

If DNA is copied incorrectly
or damaged, spelling errors,

known as variants or mutations,
crop up.

Now, when you change
the spelling of a gene,

sometimes it drastically changes

the way that a protein

and those are the kinds
of changes in the genome

that we really look to when
we're trying to trace disease.

We're trying to figure out

what spelling variant
in the genome

explains, for example,
why this child is sick.

And that's what Howard Jacob
will search for.

Convinced that a misspelled gene
underlies Andrew's condition,

he will comb through
the boy's genome to find it.

But even if he does,
it's still a gamble.

The chances are pretty high that
we're going to find something

that there's nothing
we can do about it.

And that's where, I think, a lot
of times people worry about,

well, if you can't change it,
why do it?

And we believe that providing
an answer to the family

does have merit to the family

even if we can't
help his outcome.

And so here we've decided

that it's better to go look
and potentially fail by looking

than to not have looked

and missed an opportunity
to succeed.

As advances in technology drive
down the cost of DNA sequencing,

it's becoming accessible,

not just to the sick,
but the curious.

And a handful of companies have
arisen to meet the demand.

They don't offer whole
genome sequencing yet,

more of an economy-class
genome scan.

One of the best known is
the Silicon Valley start-up

co-founded by Anne Wojcicki.

From day one when we started
this company,

our goal has always been, "How
do we make genetics accessible?"

And we started off
with the genotyping technology

because it's a fabulously
robust technology.

It's incredibly reliable.

And, most importantly,
it's inexpensive.

Human genomes
are 99.9% identical.

But by analyzing the DNA
in your saliva,

23andMe will show you
a million sites in your genes

where the spelling sometimes
differs between people.

These one-letter variants
may predispose you

to certain traits and diseases.

A million letters
may sound impressive,

but that's far less
than one percent of your DNA.

Genotyping is not
DNA sequencing.

Genotyping is identical
to looking at a hundred words

in a 600-page novel

and believing you know
everything about Tolstoy.

Genotyping can explain
odd traits,

such as why some people
find Brussels sprouts bitter.

But when Jay Adelson wanted
to know his chances

of getting the brain disorder
known as Parkinson's disease,

he found the results
far less clear.

There is something called
an odds calculator.

And that odds calculator says
I have roughly a 60% chance

of contracting
Parkinson's disease.

And my father has it, but his
parents and his grandparents,

no one had Parkinson's disease.

So, while it's a genetic trait
that passes down,

it doesn't necessarily mean
that I'm going to contract it.

And so I spent a lot of time

trying to understand
what it meant.

Almost all the evidence
we're going to get

will be not hard determining
facts about our futures,

but it'll be probabilistic

It will tilt the odds
a little bit one way or another.

And we're not very well prepared
as a society

to sort of negotiate
those risk elements.

And some people will
overinterpret those risks,

and they will rush out
and try to get diagnostic tests

or they'll try to get
surveillance tests

to try to help them interpret

what this information means
and what it doesn't mean.

Given such concerns, critics
argue that genetic information

should only come from
a medical professional.

Anne Wojcicki disagrees.

As of today, we're the only
company that allows you

to go direct to the website

and not require you
to go through a physician.

And, again, I think this is
really core to our belief

that this is your genetic

and something that's
fundamentally about you

and that you should have
the right

to get access
to that information.

Even the head of the National
Institutes of Health,

Francis Collins, decided to take
the genomic plunge.

He submitted his DNA
to three genotyping companies,

including 23andMe.

I was a little
on the cynical side about,

"Yeah, yeah, yeah,
these are early days,

and how do I know they even
got the results right?"

But opening up that website

and beginning to look
down the list of things

where I turned out to be
at higher than average risk

got my attention.

All three companies agreed

Collins was at a substantially
increased risk

for getting type-2 diabetes.

And that got me motivated.

I am 27 pounds lighter today
than I was two years ago,

and I'm working out
three times a week.

And the chance to have
a little bit of a prediction

about your future, as imperfect
as it is right now,

and it's very imperfect, could
still be a teachable moment.

But some of the results
were contradictory.

Prostate cancer was the most
glaring example.

One company said,
"Higher than average risk."

One said, "About average,"

the other said,
"Lower than average risk."

So, what's going on?

According to neurogeneticist
Rudy Tanzi,

companies often look
at different parts of genes

and make predictions
based on incomplete data.

These two...
These two or that one.

Even when we have
that full set of genes

where these variants increase
your risk

and these variants protect you,

knowing how they work together
or independently

to come up with a real number?

Good luck.

And remember,
most of those variants

are going to work together
with your lifestyle.

They're not guaranteeing

It depends on how you eat,
do you exercise?

I always think about,

is it possible
that the person who's told

they're not at high risk will do
less and maybe be harmed?

"Oh, I don't have a cardiac
problem genetically.

"Now I'm going to go out
and eat rich foods

night and day," and so on.

So there are all sorts of
decisions that result from that.

Information is always
hard to handle.

One example is a piece
of genetic information

so potentially disturbing

that even a founder
of modern gene science

refused to take a chance
on running into it.

James Watson,

the man who co-discovered
the double helix of DNA,

one of the very first people
in the world

to have his genome
completely sequenced.

He said to the scientists who
were doing the sequencing,

"There's one gene I don't wish
to know anything about."

Known as APOE-4,
on chromosome 19,

it has been associated
with late-onset Alzheimer's,

the leading cause of dementia
in the elderly.

The variant increases one's risk
three to tenfold.

But what does that mean?

What does it mean to say, "You
have a tenfold increased risk

over someone
who doesn't have it"?

Can you then convert that

into an absolute lifetime risk
type of number to say,

"Here's your percent chance
of getting the disease"?


Because you need to know what
other genes work with APOE.

You need to understand

how lifestyle is working
together with APOE.

In fact, many people with APOE-4
never get Alzheimer's,

while others with the disease
don't have the variant.

I think the real key here

is to disabuse people
of the misunderstanding

that genetics is wholly

In a few rare instances,
there is a tight linkage

between a particular mutation
and a disease.

But the vast majority
of genetic information

is largely probabilistic.

Yet some genes speak louder
than others.

Although we get two copies
of most genes,

one from each parent,

certain dominant genes confer
a trait of their own.

♪ I'm going to eat lunch
with Katie and my mom. ♪

And certain dominant disease
genes, although rare,

will eventually make you sick.

As a volunteer for the
Huntington's disease society,

Katie Moser works with people
in this rare category,

among them Meghan Sullivan.

Four years ago, Meghan was
a high school student

with everything
to look forward to.

But with college came a set
of heartbreaking symptoms.

The reason for Meghan's
plummeting grades,

sudden movements
and stumbling speech

is a snippet of genetic code
that repeats many times

instead of a few,
causing Huntington's disease.

The mutation creates an
elongated protein in the brain,

which is as toxic to Meghan

as it was to Katie's

who also had Huntington's.

And if he passed this gene
to Katie's mother,

Katie had a 50% chance
of carrying it herself.

For years she wondered
if she should get tested.

In the case of a gene mutation
that guarantees the disease,

that's a real tough decision
because there, there's no hope.

If you get the wrong answer,

it's somewhat
of a death sentence.

I decided to get tested
for the gene

because I wanted to be able
to plan my life...

Financially, physically,

And I wanted to know if someday
I would start showing symptoms.

But my family
did not want to know.

Tests confirmed that Katie

will eventually get
Huntington's disease.

But knowing has had

Dates who disappear,

relatives who won't speak to her

since they must now confront
their own genetic status.

"The burden of knowing"

is what journalist
Catherine Elton calls it.

For this age of personalized
genetic testing,

it's not personal.

People exist in families.

And by the nature of the fact
that you have tested,

you are revealing
this information

to people who may not
want to know.

Elton herself was offered a test

for mutations
in the BRCA-1 gene,

linked with a high chance

of getting breast
or ovarian cancer.

Her mother, her grandmother
and her aunt

had their lives cut short
by these diseases.

If Elton had the mutation,
she could minimize her risks

by having her breasts
and ovaries removed.

If she wanted children,

she would have to have them
before surgery.

I didn't want those results.

I didn't want to have that
in the back of my mind

and maybe make me settle
for the wrong guy

and rush into having kids
before I was ready.

I mean, I think there is
a real fine line

between avoiding death
and ruining your life.

But Elton, too,
has paid for her decision.

In 2008, while pregnant
with her second child,

she was diagnosed
with breast cancer.

Yet despite the ordeal
of surgery and chemotherapy

and the risk the cancer
might come back,

she's convinced she did
the right thing

by not getting tested
in her 20s.

If I had made
those decisions at 27,

I can't even believe what
I would have missed out on.

And as the technology becomes
more accessible,

people just think, well,
this is what you do.

But I happen to believe

that some of the costs
of knowing our genetic destiny

can outweigh some
of the benefits.

While Catherine Elton sees
genetic information

as potentially damaging,

others see her disease-causing
variant, BRCA-1,

as one of the first
you can do something about...

A so-called "actionable gene."

These are genes where,

if you know the patient has
a variant in that gene,

you can actually counsel them

on things that will improve
their wellness.

One of these variants causes
deadly blood clots,

but needn't if you avoid
long periods of immobility

or take blood thinners.

Another variant tells us
we could fall victim,

even in our teens,
to a heart attack.

As a healthy adult,

if you learned about
one of those variants

and found out you carried it,
how would that change your life?

Well, you might actually invest
in defibrillator machines

for your home or your workplace.

You might change
your vacation plans,

in terms of whether
you want to do

really strenuous sports

or shock yourself
by jumping into cold water.

So far, scientists have found
about 200 actionable genes,

including one that boosts
your chance of colon cancer

by age 45.

So what can you do about that?

Well, if you start colonoscopies
at 25 or so,

you can actually keep people
free of the disease.

If you look at a personalized
medicine approach,

the mantra is early prediction,
early detection.

You want to know

if you're in trouble so that
you can start treatment

to nip the disease
in the bud stage,

prevent it before it strikes.

And if you do get sick

and your doctor
has to make a decision

about how to treat you,

there are going to be signals
in your instruction book to say,

"Not that drug.

Use this one instead."

Of course, personalized medicine
only works

if we know the gene variant
responsible for a condition.

Back at Milwaukee's
Children's Hospital,

the search for the genetic cause

of Andrew's illness
is beginning.

His decoded genome
has arrived from Illumina.

Sequencing took 45 days
and cost $7,500.

The next challenge,
and the major expense,

is figuring out
what it all means.

To find Andrew's variants,

Jacob's team will compare his
genome with thousands of others,

but mainly with
the reference genome

sequenced by the human
genome project.

So this here is the reference

The computer's the first pass.

It basically goes through
and asks a question

at each point
across Andrew's DNA.

Are you the same or different
from the reference?

And when we see a difference,
we then ask a question,

"Is that difference meaningful?"

Meaningful in that the variant
must be unique to Andrew

and a possible cause of disease.

But as the list of suspects

shrinks from three million
to a few thousand,

success proves elusive.

Meanwhile, Paula and Mike
Schmitz keep Andrew's life

as normal as possible.

We had hoped that he would
progress a little better

with his rehab,
with his walking,

and it's hard to live every day

with the anxiety of not knowing
what's next, you know.

And with Andrew,
there's always something next.

But there is hope.

One source of this hope is
another Wisconsin boy.

From age two, Nicholas Volker
struggled with a condition

that ate holes
in his intestines.

When treatment
after treatment failed,

Nick's doctors turned to
Howard Jacob and gene testing.

That's for your birthday.

Shall we open it?

Now, nearly two years later,
Nick is paying Jacob a visit.

Ask the question,

how many PhDs does it take
to assemble Green Lantern?

Nick is the model for
the success of this approach.

His illness was traced to a gene
on chromosome X called XIAP,

linked with immune disorders.

A single letter
was out of place:

a G that had mutated into an A.

I want to do the tank.

You want to do the tank?


I was afraid you were
going to say that.

We found one single letter
change in this gene, XIAP,

which now was unique.

Nobody else has the same
variation that Nick has.

And that's meaningful,

because that means that letter
is so important,

anybody who would have had

this particular variation
would die.

This single variant caused
Nick's symptoms.

But a transplant,

giving him a donor's immune
system without the misspelling,

appears to have saved him.

What does the Green Lantern do?

In Boston, genomics
is also being used

in the battle against
better-known conditions,

like cystic fibrosis, or CF.

Michael McCarrick, age 29,
knows its ravages firsthand.

How I've experienced my decline
has been sort of,

you know, in the beginning of my
life I played a lot of sports,

and I had fun playing
a lot of sports,

and then suddenly
I couldn't run,

but I could walk long distances.

And now it's like walking itself
is difficult.

Like many CF patients his age,

Michael is facing
end-stage lung disease.

Where Michael is right now

and what he is dealing with

is the torture we don't like to
watch our patients go through,

the struggle
for that next breath.

Michael may need
a lung transplant.

But Dr. Uluer hopes
a new, gene-based drug

will save him instead.

Called Kalydeco,
it targets a mutation found

in four percent of CF patients.

Every drug can have
a side effect.

But I am hoping this one
is free and clear.

Because who needs
an extra problem?

So, hopefully
it's a magic bullet.

The development of a drug
for cystic fibrosis

is especially gratifying
to Francis Collins.

Decades ago, Collins
and a team of scientists,

using rudimentary technology,

set out to find the genetic
defect behind the disease.

Back in the 1980s,

this was like looking
for a needle in the haystack

in the dark
with thick gloves on.

And one day, in the spring
of 1989, the data came across

showing that individuals
with cystic fibrosis

were missing just three letters
of that code.

Just three letters, that is,

from each copy of a gene called
CFTR on chromosome 7.

Because the mutation
is recessive,

only those who inherit a copy
from both parents

get the disease.

While we now know
1,800 different mutations

in this gene can cause CF,

Collins' team found
the main one,

truly his needle
in the haystack.

When this was announced
in August of 1989,

the excitement was palpable.

And I think many of us thought
maybe this is the launch

of a therapeutic effort that
could happen pretty quickly.

In reality,
a clinical breakthrough

would take another
20 years of research

and hundreds
of millions of dollars.

Some of the most successful work

has been done at Vertex
Pharmaceuticals in San Diego,

where scientists
are trying to fix

the defective protein
made by the CF gene.

The normal protein
creates an opening

for salts to move across
cell membranes,

keeping them moist enough
for tiny hairs called cilia

to beat and remove mucus.

In CF, the cilia's not able

to clear out the bacteria
and the mucus,

and this leads to the chronic
cycle of infection.

So the first challenge was

to be able to find molecules

that help the protein
work better.

Drawing on a vast
chemical library,

the research team employed
a small army of robots

to test 600,000 compounds
on cells taken from CF patients.

To date, two drugs
have shown the most promise,

one of them Kalydeco.

When tested on CF cells, it
helped the protein function,

allowing salts and fluids
to flow across membranes.

Van Goor could watch the result:

cilia beating,
clearing away mucus

while untreated cells

It was an exciting moment

where we really felt
we are on the right track:

designing drugs to fix a
specific problem in a protein

caused by a mutation.

Whether Kalydeco will work
for Michael McCarrick,

whose lungs are severely
damaged, remains unclear.

But younger patients
like Paul Glynn

are seeing a world
of difference.

It's a lot easier
'cause I'm not, like, coughing.

I can breathe easily.

And then my weight.

It's been going up.

Since taking the drug,
Paul has gained 12 pounds,

enough to make the local
football team.

For him, the hope is that CF

will become a manageable disease

and regular hospital visits
a thing of the past.

Which may even make
the drug cost-effective,

despite its price tag:
as much as $294,000 a year.

In Boston, meanwhile,

at Massachusetts
General Hospital,

doctors are using
new gene-based drugs

to target the most common
disease of the genome: cancer.

Tom Garpestad is a 50-year-old
building contractor.

He was stunned to learn he had
the skin cancer called melanoma.

Melanoma is the cancer
that doesn't act like cancer.

I had no symptoms,

no weight loss, no night sweats.

I felt perfectly fine
up until the point

that my neck started
bothering me.

That was the only time
I had any symptoms.

Scans revealed the cancer

had spread from his skin
to his neck, lungs and liver.

Patients who have melanoma

that has spread to other parts
of the body

from the primary skin site

have, from the time
of initial diagnosis,

typically a year or less.

Tom had already
had metastatic melanoma

for sufficiently long

that as he walked in the door
to our clinic,

he was down to a month or two.

I talked to my brother,
who's a doctor,

and he started telling me
how severe melanoma is.

You know, the average
life expectancy of somebody

with metastatic melanoma
is nine months.

Research labs weren't even
working on it that hard

because it seemed to be
completely intractable.

Nothing would ever work.

And this all changed
almost overnight

with the sequencing
of the melanoma genome.

The idea of sequencing
a cancer...

it's as big as the human genome.

Each cancer cell has
an entire human genome in it,

just mutated in various ways.

And genomics told us there was
a mutation in many melanomas

in a specific gene that goes
by the funny name "BRAF."

And it led to the idea that if
you could inhibit this BRAF,

you might be able to stop
the melanomas.

Luckily for Tom,

gene sequencing revealed
he had the BRAF mutation.

He could now join
a clinical trial

of a new drug designed
to neutralize its effects.

The cancer was getting
very aggressive.

And then they started me
on the BRAF medicine,

and within a week, I could feel
the tumors shrinking.

The BRAF mutation results
in a defective protein

that signals cells
to divide uncontrollably.

The drug binds to this protein,

stopping both the signal
and the cancer.

Unlike chemotherapy drugs,

this one kills only cancer
cells, nothing else.

PET scans of patients reveal
tumors that once riddled bodies

shrinking or vanishing
within weeks.

We had a situation in a disease

that was never responsive
to therapy

90-plus percent of the time.

To have that turn around
and have it be

90-plus percent of the time
that the treatment worked,

that's when we knew we had
completely crossed

into uncharted territory.

Only two months after lying
near death in the hospital,

Tom was back to his old life.

I think that's too skimpy,
because you've got...

You're gonna hand them
right down.

People close to me,
seeing me back on the job,

just getting out there
and doing things again.

It was amazing.

And I was always,
you know, thinking,

"Hey, how sick was I
two months ago?

Look at me now."

But that doesn't mean
the war is over.

To Keith Flaherty's dismay,

scans show melanoma returning
in many patients.

Cancer cells,
like viruses and bacteria,

can evolve to resist drugs,
even those that target genes.

But now, the ability to compare
cancer genomes

before and after treatment

is allowing scientists to see
how resistance develops.

The goal is to use

the cancer genome itself
to tell us how to defeat cancer,

tell us what's wrong in a cancer
and where we should hit it,

tell us how it's
becoming resistant

and how we can block it.

With resistance, new mutations
arise in melanoma tumors,

and once again defective
proteins ignite the cancer.

So now Tom is taking
a second drug,

which targets a mutation
linked to these relapses.

Eight months after starting
his treatment,

he awaits the results
of a new set of scans.

The scans do show
some re-growth,

but only in a limited area.

In all the other areas
where we have seen signs before,

things look great.

Tom takes in the news.

I probably wouldn't be alive
right now, you know.

So I mean, I'll take...
I'll take the eight months.

You know, I mean, it's still
a miracle drug, I think.

At present, patients like Tom

are getting between two and 18
extra months of quality life

from the new treatment.

But genomics
is also helping those

for whom there are
no targeted drugs.

Thousands of breast cancer
patients are taking a gene test

which tells them how aggressive
their cancer is

and whether they need

or can safely skip it.

You're way down here.

And that says,
"No role for chemotherapy."

Oh, that's wonderful.

The hope is
by studying cancer genes,

we'll come up
with a cocktail of drugs

like those used to treat
tuberculosis or HIV

to cure cancers
or keep them in check.

The big difference, though,

is that now really
for the first time

we can think about the right
combinations of drugs

based on the genome,

based on the science
of what's going on

inside the cancer cell.

This is not a project
for my life.

This is a project for my kids.

This is a project ultimately
for their kids.

But if in the course
of this century,

we have a complete roadmap of
what a cancer knows how to do,

that will be a mind-boggling
advance in medicine.

Another extraordinary advance

would be to eliminate inherited
diseases before birth.

We're already taking
the first steps:

by fertilizing an egg and
producing an eight-cell embryo.

You can pluck off one of those
cells and analyze its genes.

Then you can screen that embryo
for a host of diseases

using a technique called

pre-implantation genetic
diagnosis, or PGD.

When we first started performing
this technology,

I think our biggest worry was,

"Are we going to create
some kind of a birth defect

"that is maybe even worse
than the disease

we're trying to avoid?"

And what we learned was that
the embryo doesn't seem to mind.

At the Genesis Genetics

Mark Hughes and his team
are using PGD to test embryos

for mutations that can give rise
to over 300 diseases,

including Huntington's
and cystic fibrosis.

Only embryos free
of certain mutations

are implanted in the mother.

So this is the mutant gene,

this cluster of peaks.

And we have the normal gene
over here

highlighted in pink.

Tens of thousands of healthy
babies have been born to couples

who otherwise would have been
afraid to have a child,

because the disease
that they were at risk

of giving their child
was so severe.

PGD can also be used to test
for traits like gender,

leading ethicists to ask

if designer babies
are in our future.

I think we are going
to see people using genetics

to select traits.

Some of it is going to be
relatively benign.

"I want a child with this hair
color or eye color."

As to where our ability
to really intervene

in our own living processes
is really going to lead us,

we simply do not know.

And that is the promise and that
is the threat of this period.

Some fear PGD could even lead
to a new kind of eugenics

and the sort of genetic elite
depicted in the movie Gattaca.

Your extracted eggs, Marie,

have been fertilized
with Antonio's sperm.

After screening we are left,
as you see,

with two healthy boys

and two very healthy girls.

I have taken the liberty
of eradicating

any potentially
prejudicial conditions:

premature baldness, myopia,

alcoholism and addictive

propensity for violence,

Fortunately, the traits
a genetic elite would want...

Intelligence, physical ability,
even height...

Are so complex,
scientists assure us

we won't be selecting them
in embryos anytime soon.

Trying to predict height...
well, we already know

there's at least 180 genes
involved in height.

And each contributes
a little bit.

It isn't going to be easy
to go take some embryo

and sort out which of these 180
are in which of these forms.

There's just no particularly
good way to do that.

You really, really, really
want to have a tall person,

go marry a tall spouse.

It's just more efficient.

Even so, Gattaca
raises real concerns.

One of the negative implications
of this new genetic knowledge

is that we're going to start
thinking of ourselves

more in genetic terms
than we ever have before.

Do I want to date
that individual?

What's her genetics?

What's his genetics?

There's always been a tendency

to engage in deterministic

and I think scientists and
medical people and educators

must make very clear the limits
of that point of view.

We are deeply affected

by the kind of food we eat,
the kind of air we breathe,

by the kind of good luck or bad
luck that shapes our lives,

opportunities like
education and money,

and by the real romance
of simply falling in love

with an unlikely partner.

We narrow our vision if we focus
or fetishize upon genetics.

But as the cost
of a sequenced genome falls,

new generations may not get far
into the world without one.

And I envision a day
when every child is born,

they prick that child's heel,

and that DNA from that child
is decoded right at birth.

For 14-year-old twins
Noah and Alexis Beery,

sequencing at birth could have
made a world of difference.

Today, it's hard to imagine
that just two years ago,

Alexis was fighting
for her life.

The only really vivid memory
that I have of that

is just seeing red, blue
and white lights

just flashing everywhere.

That's definitely one of my,
like, number one, kinda like,

nightmares that I still have.

After Alexis and Noah were born,

they didn't reach
any of their milestones.

They didn't crawl on time,
they didn't walk on time.

And we knew pretty early
that something wasn't right.

The twins were diagnosed
with cerebral palsy.

Then at age five,
Alexis got worse.

She started losing more and more
ability to walk during the day.

She started losing
the ability to sit up

by 10:30, 11:00 in the morning.

She could no longer swallow
by that time.

And so that's not indicative
of cerebral palsy.

Retta began doing research.

One day, she came across
a rare condition

that mimics cerebral palsy,

a condition
that could be treated

with the brain chemical

Dopamine is crucial to our
bodies' ability to move.

And the morning
after Alexis took it,

she woke up to a new world.

She was walking,
she was talking,

she was using her arms,
she was whistling.

Noah also responded.

Yet the twins
still had health issues,

especially Alexis.

We actually almost lost her
on a couple of occasions.

We had paramedics
coming into our house,

trying to get her breathing,

and we were back into
that world of unknowns.

Until, that is, Joe turned to
his employer, a biotech company,

for help getting the twins'
genomes sequenced.

I'm Retta Beery, hi.

We discovered through sequencing

that there was a second problem

associated with
the rare mutation that they had.

The mutation was suppressing
yet another brain chemical.

Another drug solved
that problem too.

Whole genome sequencing really
saved Noah and Alexis's life.

Had that happened at birth,

we would have had 15 years
less pain and suffering

and probably millions
of dollars of cost.

Yet sequencing at birth
may have its downside.

One of my concerns is
the testing of children

raises many questions,
including stigmatization.

"Oh, I'm not going
to let Mary play soccer

because she's got
this cardiac risk."

So we do have a problem of
invasion of the child's privacy.

And what about your privacy?

What if a company asks
to use your DNA for research,

promising you'll
remain anonymous?

Now the question
is whether or not

that anonymized information
is truly anonymized

just because they take your name

and your Social
Security number off.

At some point in the future,

it may be that you don't need
a Social Security number,

that you don't need
to give your name,

because your genetic information
will reveal you so precisely

that we'll have to develop
a whole new definition

of what we mean by anonymity.

And what if your DNA reveals
you're at increased risk

for an incurable disease,
say, Alzheimer's?

Can a company that sells
long-term care insurance

ask you about that?

And can they use that result
to either affect your premiums

or even deny you insurance

because you're such a bad bet?

In fact, in most states, the law
already allows long-term care,

disability and life insurers

to discriminate
based on genetics.

I would not make one single base
of my DNA sequence

available publicly
in a million years.

There's too much risk.

You don't know
what's going to happen

in the future with insurance.

And think about

your company going down
the tubes

and now you have to get
a new job.

And, yeah, employers
can't discriminate,

but they happen to find out on
your Facebook page under DNA,

click, there's the sequence.

Everywhere you go, you leave
a trail of genetic debris.

When you cut your hair...

enjoy a meal at a restaurant.

A crime that once seemed like
science fiction

has become possible with cheap,
fast DNA sequencing.

It's been called
genomic hacking.

That will be frightful.

It will be used
to impugn people.

Somebody saying, "He should not
or she should not

"be a candidate
for the presidency

because she has the gene
for depression."

If somebody wants access
to your genome

for personal, romantic purposes,

for economic reasons,

for political reasons
in the future,

if they want it
they'll go after it.

Yet when illness strikes,

privacy may seem
a distant concern

and genomics your best hope.

In Milwaukee, after months
of searching

through Andrew's genome,

finally there's a discovery.

This is a list of genes
that we pulled out...

So yesterday at noon I got
an e-mail from Liz saying,

"I found a very
interesting gene."

He's got two protein-coding...

Geneticist Elizabeth Worthey

has found something unusual
in Andrew's genome.

It says mutations in this
gene have been linked...

There's two rare variants,

one that's never
been seen before

and one that's only been seen
once, as far as we know.

The next question, then,

is does this gene look like
it could explain

part of Andrew's
clinical features?

And in this case,
the answer's yes.

"Mutations in this gene have
been linked with susceptibility

to recurrent viral infections,"
which he had.

I will tell you

that this is where we get
both excited as scientists

and nervous, then,
as scientists,

because you think
you've found it.

There's a big difference between
thinking you've found it

to, "We've proved it."

In fact, the suspect gene
is soon ruled out

and the family learns
the search must continue.

So don't worry.

Until we tell you
that we've stopped looking,

we haven't stopped looking.

Well, we really appreciate it.

I know you do.

In a field this new, success and
failure continually intermix.

In Michael McCarrick's case,

the drug targeting his cystic
fibrosis mutation helped,

but his lungs were already
so damaged,

he died waiting
for a transplant.

Yet Paul Glynn,

who used to spend part
of every fall in the hospital,

is healthier than ever.

Tom Garpestad is
in a kind of limbo,

with some tumors shrinking,
others growing.

Yeah, a little
in my right ankle.

As for the Beery twins,

their only regret is not
getting sequenced sooner.

We have focused so much
of our energies

on treating people with disease,
often advanced disease,

and much less effort on trying
to prevent that disease

in the first place.

If we are going to shift
towards prevention,

your genome sequence may be

one of the most critical tools
you could imagine.

How can we balance the risks and
benefits of this critical tool?

This will soon be a question
for all of us

as we confront the ancient
challenge "know thyself"

in the genome age.

The exploration continues
on NOVA's website.

Do you want to know your chances

of developing Alzheimer's
disease or breast cancer?

What about selecting
your future offspring

based on genetic risk?

Decide for yourself, and see
what others would choose.

It's more complicated
than you might think.

Find out why
in a NOVA interactive.

You can also watch short-form
videos and hear from experts.

Follow NOVA on Facebook
and Twitter.

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and by:

Major funding for "Cracking Your
Genetic Code" is provided by:

Additional funding is provided
by Millicent Bell through:

And the George D. Smith Fund.