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So on April 22, 2015,
a four-day-old baby girl in Boston,
let's call her baby Maria,
became the first healthy infant
in human history
to have her genome
comprehensively sequenced,
comprehensively analyzed,
as part of a clinical controlled trial
in preventive genomics.
Now, why is this important?
It's great to be first,
but it's important
because when children are ill,
everybody's upset.
But when children remain ill
and doctors can't figure out
what's going on,
well, that casts their parents
into a diagnostic odyssey
that can take years
and be incredibly agonizing.
It can create all sorts
of misunderstanding,
misdiagnosis and mismanagement.
Now, sometimes those children
will go on to get genetic testing,
and sometimes they'll find an answer.
And sometimes those answers mean
that you can treat the child,
but by then it can be too late.
The damage is permanent.
This is particularly tragic
because there are so many
treatable genetic conditions today,
and they're going to be even more
with gene editing,
cell and gene therapies.
In fact, it's been suggested
that over 90 percent
of genetic conditions will be treatable
in the next few years with gene editing.
So the key to this is obviously
finding these children early,
actually analyzing their DNA
at or shortly after birth.
And so ten years ago,
I pulled together a team
at Harvard Medical School,
Mass General Brigham,
Broad Institute, Ariadne Labs,
and got together with a brilliant
group of co-leaders:
Alan Beggs, Amy McGuire,
Heidi Rehm and Ingrid Holm.
And together, we launched the BabySeq
or Baby Sequencing Project,
the world's first trial
of newborn genomic sequencing.
Now, when we presented this information
at medical meetings,
we didn't quite get the reaction
we were hoping for.
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People were aghast.
They thought we were going to do
terrible medical things to these children.
They thought there was going
to be catastrophic psychological distress,
and they thought we were going
to spend all sorts of money.
So we've spent ten years
exquisitely studying the medical,
behavioral and economic impact
of newborn genetic sequencing.
And we don't have all the answers yet,
but I have to tell you
that what we've discovered
so far is pretty reassuring.
Now, what was really surprising about this
was what we found in these normal babies.
If you take, let's say, 400 genes
which represent conditions
that are treatable today,
absolutely treatable,
in about 1,000 families,
we found mutations in those genes
in about four percent of these babies.
Four percent.
And if you expanded that gene list to be,
let's say, 5,000 genes long,
and that includes conditions
that aren't treatable yet,
conditions that maybe
attack you in adulthood,
we found an incredible
12 percent of these babies
were carrying such mutations.
Now, remember, that doesn't mean
that all of these children
are going to get the disease.
But it does mean that if you know
the risk that the children have,
then your pediatrician and your family
can be on the lookout for vague symptoms
that would otherwise be overlooked.
This isn't a small problem.
If this holds, that means
in the United States,
there are over 400,000 babies a year
that will carry these risk mutations,
and worldwide, that's over
15 million babies a year
that will carry these risk mutations.
It's kind of ironic, isn't it,
because these are
individually rare diseases,
many of them you won't even have heard of,
but together they are a massive
medical problem.
Let me let you hear from a couple
of the BabySeq mothers
who've gone through this
and hear what they have to say
about the findings in their own children.
Now, this was baby Adam,
who had an elastin gene mutation
which can be associated
with a narrowed aorta.
Mother 1: Finding out that your newborn
has a heart problem, of all things,
is absolutely terrifying.
But knowing that we could be proactive
gave us some peace of mind
that we were doing everything we could do
instead of being surprised down the road.
Robert C. Green: And in fact,
after this mutation was found,
a scan found that this baby's aorta
was already mildly narrowed,
it can now be followed
and treated if it gets worse.
Baby Cora, who's now
almost nine years old,
was found to have mutations
suggestive of biotinidase deficiency,
which is absolutely necessary
for proper brain development.
So she takes a simple dietary supplement
every day that's kept her brain safe.
Mother 2: We give her a daily vitamin
to treat her enzyme deficiency.
We had to get creative at first,
but now it's part of our routine.
I'm just glad we discovered the conditions
before there were any symptoms.
RCG: And baby Jacob
was one of four children
who had mutations that created
a predisposition for pediatric
or adult onset cancers.
Now, in his case,
the gene was BRCA2 or “Broca” 2,
and nobody in the family
knew that it was present.
When we found out,
we traced it back to his mother,
who was surprised
but who could then take action.
Mother 3: It turns out that I ultimately
was carrying a mutation.
I had risk-reducing
and ultimately life-saving surgery,
and I believe it was the right decision
so I could be present for my son.
RCG: So how can we bring this
to every family that wants this insight?
Well, there is a newborn screening system
around most of the world.
It looks for, in the United States,
up to 75 treatable conditions,
mostly metabolic conditions.
But that system is overburdened,
under-resourced,
and since 2008,
it's only added nine new conditions.
And as we've just said,
there are several hundred
treatable genetic conditions today.
It’s going to be very hard
for them to keep up.
Why are people so resistant?
Why aren't we demanding this?
Well, part of the reason
is human psychology, right?
You bring home this perfect little baby,
and you don't really want to look
for something that might be wrong,
even if, intellectually,
you know it might be treatable.
But we've got to get past that.
The other reason is privacy concerns.
And this is sort of ironic
because privacy concerns are real.
Your DNA is a biometric.
It's kind of like a fingerprint.
There's certainly some
law enforcement considerations,
but if somebody steals my genome,
they really can't make much of it.
Whereas if they steal
my electronic footprint
or your electronic footprint,
there's a lot more harm that can be done.
So I'm not saying we shouldn't
be concerned about privacy.
In fact, privacy is protected
when you look for genomic information
in a medical context,
just like it's protected
for your psychiatric history
and your HIV status and so forth.
It's also been confusing to have
direct-to-consumer genetic testing.
Now, these companies, for the most part,
were very honest about what they offered,
but they were not protected by these same
legal protections as health care.
And typical direct-to-consumer companies
use a technology called genotyping.
So they're looking for various
markers in the genome,
which is good for ancestry and traits,
but not so good for mutations.
For that, you really need the sequencing,
every single letter of the DNA,
and that's 5,000 times more granular.
I also think there's a systematic
or institutional resistance, right?
Because genomics is the tip
of the spear for preventive care.
It's really the first in a series
of things that we need to bring
in order to preserve our health:
multiomics, proteomics,
transcriptomics, wearables,
all the exciting things we've heard about
that will keep us well
instead of simply treating us
when we're sick.
Now, I'm happy to tell you that I've
co-founded an international consortium
on newborn sequencing.
It's grown to 27 groups around the world
that are all doing this in different
healthcare systems.
We get together, we compare
notes, we share data.
It's really exciting.
I go to these annual meetings,
it’s the most exciting meeting
I go to every year,
we feel like we're inventing
an entirely new field of medicine.
But if we really want
to invent the future,
we've got to do something different.
If we really want to invent the future,
we've got to realize that a child's DNA
doesn't change over time,
but the science is changing all the time.
And so what that means is we should
sequence your child's DNA,
and we should revisit
and reanalyze that DNA
over and over again
to truly create the dream
of genome-informed medicine.
Because each and every year
there will be new insights
and new treatments available.
This isn't offered anywhere in the world,
but I'm happy to tell you
that we are trying to build this.
We are building an AI-enhanced
digital health platform
so that you, your grandchildren,
your children, your pediatricians,
your health care centers, your employers,
your nations can do this at scale.
It's going to take a certain
amount of courage
to change the way we think about disease,
to embrace the knowledge of risk
in order to preserve our health,
rather than waiting for us
and our children to get sick
and treating them there.
But if we can do this,
if we can embrace this,
we can save millions of lives
and usher in an entirely new era
of genome-inspired medicine.
Thank you.
(Applause)
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