NARRATOR: 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.
NATHANIEL PEARSON: 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.
NARRATOR: Few could afford the cost...
$350,000... just three years ago.
But that's changing.
FRANCIS COLLINS: 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.
NARRATOR: The result could be a revolution in medicine:
using genetic information to diagnose and cure disease.
JOE BEERY: 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.
NARRATOR: But it could also lead
to wholesale invasions of privacy and an ethical quagmire.
JAY ADELSON: There's a lot of fear about, say,
insurance companies
or other professionals being able to access that data.
RUDI TANZI: 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.
NARRATOR: 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."
NARRATOR: 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.
GREGORY STOCK: 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.
COLLINS: 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.
NARRATOR: This could be your future.
A new kind of personalized medicine
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.
TANZI: 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."
CATHERINE ELTON: 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.
NARRATOR: But while some sound notes of caution,
the science is rushing ahead
and is now taking on medical challenges
once thought impossible.
(laughing)
Consider Andrew Schmitz, a bubbly five-year-old
who has no idea his life hangs in the balance.
PAULA SCHMITZ: 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.
NARRATOR: 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?
VORA: 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 medications,
but they also can have their harms as well.
Does the light bother you?
NARRATOR: Desperate for a diagnosis,
Dr. Vora has brought in geneticist Howard Jacob.
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...
NARRATOR: If Jacob is right, there's a chance that Andrew's condition
could finally be diagnosed,
opening up the possibility of a cure.
JACOB: So we will do everything we can
to sort through his genome and see what we can find in there.
NARRATOR: 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.
(applause)
When the first draft was finished in 2000,
it was hailed as one of humanity's great achievements.
ERIC LANDER: 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.
NARRATOR: 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.
PEARSON: Now, when you change the spelling of a gene,
sometimes it drastically changes
the way that a protein functions,
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.
NARRATOR: 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.
JACOB: 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.
NARRATOR: 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
23andMe, co-founded by Anne Wojcicki.
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.
NARRATOR: 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 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.
JONATHAN ROTHBERG: 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.
NARRATOR: 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.
ADELSON: 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 information.
It will tilt the odds a little bit one way or another.
ROBERT GREEN: 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.
NARRATOR: Given such concerns, critics argue that genetic information
should only come from a medical professional.
Anne Wojcicki disagrees.
WOJCICKI: 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 information
and something that's fundamentally about you
and that you should have the right
to get access to that information.
NARRATOR: 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.
COLLINS: 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
gomy attention.
NARRATOR: All three companies agreed
Collins was at a substantially increased risk
for getting type-2 diabetes.
COLLINS: 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.
NARRATOR: 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."
NARRATOR: 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.
TANZI: 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 anything.
It depends on how you eat, do you exercise?
DAVID ALTSHULER: 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?
RONALD GREEN: "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.
NARRATOR: 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.
KEVIN DAVIES: 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."
NARRATOR: 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.
TANZI: 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"?
No.
Because you need to know what other genes work with APOE.
You need to understand
how lifestyle is working together with APOE.
NARRATOR: In fact, many people with APOE-4 never get Alzheimer's,
while others with the disease don't have the variant.
ROBERT GREEN: I think the real key here
is to disabuse people of the misunderstanding
that genetics is wholly deterministic.
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.
NARRATOR: 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.
NARRATOR: 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.
NARRATOR: 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 grandfather,
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.
TANZI: 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.
MOSER: I decided to get tested for the gene
because I wanted to be able to plan my life...
financially, physically, emotionally.
And I wanted to know if someday I would start showing symptoms.
But my family did not want to know.
NARRATOR: Tests confirmed that Katie
will eventually get Huntington's disease.
But knowing has had repercussions...
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.
ELTON: 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.
NARRATOR: 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.
ELTON: 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.
NARRATOR: 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.
ELTON: 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.
NARRATOR: 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.
NARRATOR: 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.
PEARSON: 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 activities
or shock yourself by jumping into cold water.
NARRATOR: 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.
TANZI: If you look at a personalized medicine approach,
the mantra is early prediction, early detection.
You want to know pre-symptomatically
if you're in trouble so that you can start treatment
to nip the disease in the bud stage,
prevent it before it strikes.
COLLINS: 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."
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.
DAVID DIMMOCK: So this here is the reference sequence.
JACOB: 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?"
NARRATOR: 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.
MIKE SCHMITZ: 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.
NARRATOR: 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?
NARRATOR: Now, nearly two years later, Nick is paying Jacob a visit.
Ask the question,
how many PhDs does it take to assemble Green Lantern?
NARRATOR: 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.
JACOB: You want to do the tank?
Yeah.
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.
NARRATOR: 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?
NARRATOR: 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.
NARRATOR: Like many CF patients his age,
Michael is facing end-stage lung disease.
AHMET ULUER: 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.
NARRATOR: 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.
McCARRICK: 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.
NARRATOR: 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.
COLLINS: 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.
NARRATOR: 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.
NARRATOR: 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.
FRED VAN GOOR: 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.
NARRATOR: 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 languished.
VAN GOOR: 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.
NARRATOR: 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.
NARRATOR: 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.
GARPESTAD: 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.
NARRATOR: Scans revealed the cancer
had spread from his skin to his neck, lungs and liver.
KEITH FLAHERTY: 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.
GARPESTAD: 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.
TODD GOLUB: 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.
LANDER: 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.
NARRATOR: 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.
GARPESTAD: 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.
NARRATOR: 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.
FLAHERTY: 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.
NARRATOR: 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."
NARRATOR: 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.
LANDER: 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.
NARRATOR: 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.
NARRATOR: Afterwards, 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.
NARRATOR: 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 chemotherapy
or can safely skip it.
You're way down here.
And that says, "No role for chemotherapy."
Oh, that's wonderful.
NARRATOR: 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.
GOLUB: 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.
LANDER: 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.
NARRATOR: 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.
MARK HUGHES: 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.
NARRATOR: At the Genesis Genetics Institute,
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... - Yes.
..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.
NARRATOR: PGD can also be used to test for traits like gender,
leading ethicists to ask
if designer babies are in our future.
GREEN: 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.
NARRATOR: 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 susceptibility,
propensity for violence, obesity...
NARRATOR: 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.
LANDER: 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.
NARRATOR: Even so, Gattaca raises real concerns.
GREEN: 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 genetics,
and I think scientists and medical people and educators
must make very clear the limits of that point of view.
PATRICIA WILLIAMS: 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.
ROTHBERG: 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.
NARRATOR: 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.
ALEXIS BEERY: 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.
JOE BEERY: 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.
NARRATOR: The twins were diagnosed with cerebral palsy.
Then at age five, Alexis got worse.
RETTA BEERY: 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.
NARRATOR: 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.
Dopamine is crucial to our bodies' ability to move.
And the morning after Alexis took it,
she woke up to a new world.
JOE BEERY: She was walking, she was talking,
she was using her arms, she was whistling.
NARRATOR: 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.
NARRATOR: Until, that is, Joe turned to his employer, a biotech company,
for help getting the twins' genomes sequenced.
I'm Retta Beery, hi.
JOE BEERY: We discovered through sequencing
that there was a second problem
associated with the rare mutation that they had.
NARRATOR: The mutation was suppressing yet another brain chemical.
Another drug solved that problem too.
BEERY: 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.
NARRATOR: Yet sequencing at birth may have its downside.
GREEN: 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.
NARRATOR: And what about your privacy?
What if a company asks to use your DNA for research,
promising you'll remain anonymous?
WILLIAMS: 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.
NARRATOR: And what if your DNA reveals you're at increased risk
for an incurable disease, say, Alzheimer's?
MURRAY: 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 your insurance entirely,
because you're such a bad bet?
NARRATOR: In fact, in most states, the law already allows long-term care,
disability and life insurers
to discriminate based on genetics.
TANZI: 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.
NARRATOR: 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.
GREEN: 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.
NARRATOR: 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...
NARRATOR: Geneticist Elizabeth Worthey
has found something unusual in Andrew's genome.
WORTHEY: It says, mutations in this gene have been linked...
JACOB: 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.
JACOB: 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."
NARRATOR: 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.
JACOB: I know you do.
NARRATOR: 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.
GARPESTAD: Yeah, a little in my right ankle.
NARRATOR: 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.
NARRATOR: 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.