some of you may be old enough to
remember a time when we had magazine
subscriptions now every week a new
magazine issue would be delivered right
to your mailbox my family is a family of
avid readers and we loved reading
magazines for some reason when we were
finished with them we wouldn’t toss them
away we would stack them up in the
basement today for some future purpose
when I was in high school cleaning up
the basement I came across an old issue
of Life magazine and it described DNA as
the secret to life
I knew about genes and I knew about
inheritance but to read this article
about how a molecule can control cell
differentiation and gene regulation was
really amazing to me and thus began my
fascination with DNA I knew right then
that I wanted to be a scientist it’s no
surprise that after high school I went
to college where I pursued a degree in
biology and I still had that love for
science but wasn’t quite sure how to
apply it to real life I decided to go to
graduate school and pursue an advanced
degree and because of my fascination
with DNA I decided to study molecular
biology it was in graduate school that I
learned more about gene regulation how
genes get turned on and get turned off
and also about tools that we could use
to understand DNA at its most
fundamental level the actual DNA
sequence in fact it was during graduate
school that I learned how to sequence
back then everything was completely
manual we used radioactively-labeled
chemicals to tag DNA fragments so that
we could visualize them on a piece of
x-ray film each column on that x-ray
film represented one of the DNA bases or
the building blocks of DNA we would put
that piece of x-ray film on a light box
and use a ruler to keep track of where
we were and go line by line and write
down each base by hand it was very
tedious work and on a good day we could
determine maybe 400 bases of DNA
sequence remember the human genome has 3
billion bases of DNA it was kind of like
trying to dig a ditch with a teaspoon as
a postdoc I learned about the
biotechnology industry and how biotech
companies were working hard to take
cutting-edge technology from the
discovery space into practical use I
spent the next 15 years in fact working
to take the polymerase chain reaction
technology or PCR into the clinical
space pcr is a very sensitive chemical
technology it allows us to look for
small fragments of DNA and then to make
copies of that DNA so that we have
enough material to analyze we used to
refer to this as looking for a needle in
a haystack and then making a haystack
out of those needles when this
technology was first described we had to
use test tubes and water baths and
pipettes in order to set up these
chemical reactions at Roche where I was
working at the time
we were able to simplify this technology
and take what was a very laborious and
delicate technique and turn it into
something that was automated reliable
and reproducible and today in fact PCR
is used in every molecular diagnostic
lab around the world to look for things
like the HIV virus or the hepatitis
virus or other infectious diseases in
human samples today I’m doing much the
same thing pursuing my passion for
bringing technology closer to patients
at Illumina a local company that
develops advanced DNA sequencing
technology well what’s the big deal
about DNA sequencing DNA is the
blueprint for life the reason we call it
that is that our DNA contains all the
information that’s needed for us to grow
develop survive and reproduce sequencing
our DNA can help us understand our
individualized blueprint I once heard
Eric Topol described the importance of
individualized genomic medicine from pre
womb to tomb
well pre womb is that time when a couple
has decided to start a family and we can
use genetic screening to test one or
both of the parents to see whether they
might carry any genetic variants that
could be passed on to their children and
result in an inherited genetic disease
if a couple’s having trouble getting
pregnant and has to use in vitro
fertilization we can use DNA sequencing
of the embryo prior to implantation to
screen for a healthy embryo and ensure a
more successful pregnancy during
pregnancy
we use DNA sequencing of DNA that’s
circulating in a pregnant woman’s blood
to assess the genetic health of her
unborn child for women over the age of
35 its standard of care to be tested
early during the pregnancy to see
whether her baby might have any genetic
abnormalities like trisomy 21 for
example which causes Down syndrome
traditionally this is done by a test
called amniocentesis where a very long
needle is inserted directly into the
womb to take a sample of amniotic fluid
that’s then tested genetically and today
using DNA sequencing we can do that same
genetic analysis from a simple tube of
blood in newborns genetic testing is
used to test infants in the neonatal
intensive care unit who are suffering
from undiagnosed causes of genetic
disease in fact right here at Rady
Children’s Hospital genetic testing is
being used routinely to speed up that
time to diagnosis earlier this year dr.
Stephen Kingsmore and his colleagues at
Rady were awarded the Guinness world
record for the fastest human genome ever
sequenced just 19 and a half hours a few
years ago it would have taken weeks or
even months to sequence an entire human
genome to date the team a tradie
has done DNA sequencing on over 300
children and they’ve also expanded their
outreach to children’s hospitals in
Orange County in Colorado in Florida and
in Minnesota and to date they’ve they’ve
determined a diagnostic result for over
a hundred and eleven of those kids whose
genomes were sequenced and in over 69%
of them dr. Kingsmore said that that
diagnosis has changed the way the
patient was treated
now some of these cases are even an
emergency type of situation for example
one baby who was admitted to rady
was suffering from severe seizures that
were flatlining the brain activity in
the 8 day old infant using DNA
sequencing the team was able to trace
the cause of those seizures to a pair of
genetic mutations that cause a condition
called pyridoxamine dependent deficiency
epilepsy which is treatable with a form
of vitamin b6 within 36 hours of
treating the infant the seizure stopped
without this genomic information it
would have likely had taken the doctors
weeks of trial and error
testing one anti-seizure medication
after another and waiting to see whether
it worked before they found the right
treatment getting to the right diagnosis
more quickly dr. Kingsmore said likely
saved this baby’s life throughout
adolescence and into our adulthood we
use DNA sequencing to screen for
infectious diseases to track disease
outbreaks to test for predisposition for
disease and even get a better
understanding of cancer the study of
cancer has been around for hundreds of
years but it wasn’t until scientists
understood that carcinogens or
cancer-causing agents were causing
damage to DNA and this genetic
understanding of the nature of cancer
has even led to differences in the way
we treat cancer
we started with treating with surgery
alone and then moved to radiation and
chemotherapy and now quite frequently
cancer is treated with targeted
molecular therapies which are therapies
that are directed at specific unique
variants in the genes that cause cancer
in fact today cancers even thought of in
the molecular terminology of cancer not
just lung cancer or breast cancer but
EGFR cancer or al cancer described by
the genes that caused the cancer
more recently newer therapies have have
evolved that harness the power of the
patient’s own immune system to fight the
cancer cancer cells are not normal and
DNA damage doesn’t kill cancer cells in
fact cancer cells often change or mutate
in order to hide from our immune system
these new immunotherapy drugs alert the
immune system to these mutated cells so
that it can locate and destroy those
cancer cells you’ve probably seen ads on
TV for drugs like AB Devo your voy or
maybe ki true de in fact katroo de was
the drug that was used to treat former
President Jimmy Carter and the next
revolution is already underway we’re
moving from treatment to prevention
several companies are using DNA
sequencing to look for cancer DNA that
circulates in the blood in order to
detect cancer earlier and earlier even
before symptoms appear or before a tumor
can be seen on a scan all from a simple
– of blood now that all sounds great but
these technologies can’t help patients
if they don’t have access to them it
turns out that the top cancer centers in
the u.s. only treat about 10% of all
cancer patients that means 90% are in
local hospitals and medical centers
my goal and my drive is to enable labs
all around the world to have access to
this kind of technology so that patients
can be closer to the technology that
they need to get the better the best
treatment we’re working every day to
make this technology simpler faster and
more affordable in order to bring it
closer to patients we are truly
unlocking the power of the genome from
screening prior to and during pregnancy
to testing for genetic diseases in
newborns to screening for predisposition
to molecular profiling of cancer we’re
using DNA sequencing to understand our
individualized blueprint and use that
information to inform better treatment
we’re just getting started though there
is much more to learn and much more to
discover but just like the internet or
our smartphones one day genomics will be
a routine part of each one of our lives
thank you
[Applause]
[Music] you
remember a time when we had magazine
subscriptions now every week a new
magazine issue would be delivered right
to your mailbox my family is a family of
avid readers and we loved reading
magazines for some reason when we were
finished with them we wouldn’t toss them
away we would stack them up in the
basement today for some future purpose
when I was in high school cleaning up
the basement I came across an old issue
of Life magazine and it described DNA as
the secret to life
I knew about genes and I knew about
inheritance but to read this article
about how a molecule can control cell
differentiation and gene regulation was
really amazing to me and thus began my
fascination with DNA I knew right then
that I wanted to be a scientist it’s no
surprise that after high school I went
to college where I pursued a degree in
biology and I still had that love for
science but wasn’t quite sure how to
apply it to real life I decided to go to
graduate school and pursue an advanced
degree and because of my fascination
with DNA I decided to study molecular
biology it was in graduate school that I
learned more about gene regulation how
genes get turned on and get turned off
and also about tools that we could use
to understand DNA at its most
fundamental level the actual DNA
sequence in fact it was during graduate
school that I learned how to sequence
back then everything was completely
manual we used radioactively-labeled
chemicals to tag DNA fragments so that
we could visualize them on a piece of
x-ray film each column on that x-ray
film represented one of the DNA bases or
the building blocks of DNA we would put
that piece of x-ray film on a light box
and use a ruler to keep track of where
we were and go line by line and write
down each base by hand it was very
tedious work and on a good day we could
determine maybe 400 bases of DNA
sequence remember the human genome has 3
billion bases of DNA it was kind of like
trying to dig a ditch with a teaspoon as
a postdoc I learned about the
biotechnology industry and how biotech
companies were working hard to take
cutting-edge technology from the
discovery space into practical use I
spent the next 15 years in fact working
to take the polymerase chain reaction
technology or PCR into the clinical
space pcr is a very sensitive chemical
technology it allows us to look for
small fragments of DNA and then to make
copies of that DNA so that we have
enough material to analyze we used to
refer to this as looking for a needle in
a haystack and then making a haystack
out of those needles when this
technology was first described we had to
use test tubes and water baths and
pipettes in order to set up these
chemical reactions at Roche where I was
working at the time
we were able to simplify this technology
and take what was a very laborious and
delicate technique and turn it into
something that was automated reliable
and reproducible and today in fact PCR
is used in every molecular diagnostic
lab around the world to look for things
like the HIV virus or the hepatitis
virus or other infectious diseases in
human samples today I’m doing much the
same thing pursuing my passion for
bringing technology closer to patients
at Illumina a local company that
develops advanced DNA sequencing
technology well what’s the big deal
about DNA sequencing DNA is the
blueprint for life the reason we call it
that is that our DNA contains all the
information that’s needed for us to grow
develop survive and reproduce sequencing
our DNA can help us understand our
individualized blueprint I once heard
Eric Topol described the importance of
individualized genomic medicine from pre
womb to tomb
well pre womb is that time when a couple
has decided to start a family and we can
use genetic screening to test one or
both of the parents to see whether they
might carry any genetic variants that
could be passed on to their children and
result in an inherited genetic disease
if a couple’s having trouble getting
pregnant and has to use in vitro
fertilization we can use DNA sequencing
of the embryo prior to implantation to
screen for a healthy embryo and ensure a
more successful pregnancy during
pregnancy
we use DNA sequencing of DNA that’s
circulating in a pregnant woman’s blood
to assess the genetic health of her
unborn child for women over the age of
35 its standard of care to be tested
early during the pregnancy to see
whether her baby might have any genetic
abnormalities like trisomy 21 for
example which causes Down syndrome
traditionally this is done by a test
called amniocentesis where a very long
needle is inserted directly into the
womb to take a sample of amniotic fluid
that’s then tested genetically and today
using DNA sequencing we can do that same
genetic analysis from a simple tube of
blood in newborns genetic testing is
used to test infants in the neonatal
intensive care unit who are suffering
from undiagnosed causes of genetic
disease in fact right here at Rady
Children’s Hospital genetic testing is
being used routinely to speed up that
time to diagnosis earlier this year dr.
Stephen Kingsmore and his colleagues at
Rady were awarded the Guinness world
record for the fastest human genome ever
sequenced just 19 and a half hours a few
years ago it would have taken weeks or
even months to sequence an entire human
genome to date the team a tradie
has done DNA sequencing on over 300
children and they’ve also expanded their
outreach to children’s hospitals in
Orange County in Colorado in Florida and
in Minnesota and to date they’ve they’ve
determined a diagnostic result for over
a hundred and eleven of those kids whose
genomes were sequenced and in over 69%
of them dr. Kingsmore said that that
diagnosis has changed the way the
patient was treated
now some of these cases are even an
emergency type of situation for example
one baby who was admitted to rady
was suffering from severe seizures that
were flatlining the brain activity in
the 8 day old infant using DNA
sequencing the team was able to trace
the cause of those seizures to a pair of
genetic mutations that cause a condition
called pyridoxamine dependent deficiency
epilepsy which is treatable with a form
of vitamin b6 within 36 hours of
treating the infant the seizure stopped
without this genomic information it
would have likely had taken the doctors
weeks of trial and error
testing one anti-seizure medication
after another and waiting to see whether
it worked before they found the right
treatment getting to the right diagnosis
more quickly dr. Kingsmore said likely
saved this baby’s life throughout
adolescence and into our adulthood we
use DNA sequencing to screen for
infectious diseases to track disease
outbreaks to test for predisposition for
disease and even get a better
understanding of cancer the study of
cancer has been around for hundreds of
years but it wasn’t until scientists
understood that carcinogens or
cancer-causing agents were causing
damage to DNA and this genetic
understanding of the nature of cancer
has even led to differences in the way
we treat cancer
we started with treating with surgery
alone and then moved to radiation and
chemotherapy and now quite frequently
cancer is treated with targeted
molecular therapies which are therapies
that are directed at specific unique
variants in the genes that cause cancer
in fact today cancers even thought of in
the molecular terminology of cancer not
just lung cancer or breast cancer but
EGFR cancer or al cancer described by
the genes that caused the cancer
more recently newer therapies have have
evolved that harness the power of the
patient’s own immune system to fight the
cancer cancer cells are not normal and
DNA damage doesn’t kill cancer cells in
fact cancer cells often change or mutate
in order to hide from our immune system
these new immunotherapy drugs alert the
immune system to these mutated cells so
that it can locate and destroy those
cancer cells you’ve probably seen ads on
TV for drugs like AB Devo your voy or
maybe ki true de in fact katroo de was
the drug that was used to treat former
President Jimmy Carter and the next
revolution is already underway we’re
moving from treatment to prevention
several companies are using DNA
sequencing to look for cancer DNA that
circulates in the blood in order to
detect cancer earlier and earlier even
before symptoms appear or before a tumor
can be seen on a scan all from a simple
– of blood now that all sounds great but
these technologies can’t help patients
if they don’t have access to them it
turns out that the top cancer centers in
the u.s. only treat about 10% of all
cancer patients that means 90% are in
local hospitals and medical centers
my goal and my drive is to enable labs
all around the world to have access to
this kind of technology so that patients
can be closer to the technology that
they need to get the better the best
treatment we’re working every day to
make this technology simpler faster and
more affordable in order to bring it
closer to patients we are truly
unlocking the power of the genome from
screening prior to and during pregnancy
to testing for genetic diseases in
newborns to screening for predisposition
to molecular profiling of cancer we’re
using DNA sequencing to understand our
individualized blueprint and use that
information to inform better treatment
we’re just getting started though there
is much more to learn and much more to
discover but just like the internet or
our smartphones one day genomics will be
a routine part of each one of our lives
thank you
[Applause]
[Music] you
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