within the next 15 years many of you are
very likely to be faced with a question
do you want to have your genome
sequenced and when that question comes
you’re going to have to weigh up the
benefits and the harms and make a
decision that is right for you you may
be asked this question because you are a
patient with a rare disease you may be
asked this question because you’re the
relative of a patient with cancer you
may be asked this question because you
are being invited to be a participant in
genomics research and you may be
considering this question because you’re
considering it as a consumer whatever
the context when that question comes you
are going to need to weigh up the
benefits and the harms and make a
decision that is right for you and your
family today what I’m going to be
talking to you about is genomics and
genome sequencing but what I hope to
convince you of is actually not the
importance of genomics itself but the
importance of psychology as applied to
genomics psychology is the scientific
study of the mind and behavior and it is
crucial to the field of genomics because
the way that you think the way that you
act and the way that you feel in
response to getting personal genomic
information about yourself is going to
be central to our understanding of the
value or utility of genome sequencing so
first of all what is your genome your
genome is your complete set of DNA
including all 20,000 of your genes it’s
packaged up into this familiar double
helix shape and you have a copy of your
genome inside almost all of the 20s that
trillions of cells that make up your
human body your genome acts like a kind
of instruction manual for your body and
it’s made out of these four chemical
units or letters called a T C and G
there are about three billion of these
letters in your genome and the order of
these letters is called your genome
sequence about 99.9% of the letters in
your genome are identical to every
single other persons on this planet now
it sounds really small but that not 0.1%
that differs between you and other
people is actually really important
if you think about it not point 1% of 3
billion is actually still 3 million and
those three million DNA variants
influence all sorts of things like what
she looked like for disease risks and
genome sequencing is a technology that
allows scientists to read the order of
the letters in your genome to do this a
blood or saliva sample is taken the
sample is sent to a laboratory where the
DNA is extracted the DNA is then
processed by DNA sequencing machine and
at the end of this process a list of 3
billion letters is produced including
that 3 million that differs between you
and other people
now this less than list of letters that
were data is potentially incredibly
powerful but actually it tells you
precisely nothing until it’s been
interpreted to interpret your data
scientists have to go through those 3
million variants in your genome to find
the ones that might be important for
your health and they do this by
comparing the variants in your genome
with those in large databases that are
compiled of the variants from lots of
other people’s genomes just 15 years ago
only one human genome on the planet had
been sequenced and to sequence the human
genome first human genome involved
dozens of laboratories like this one
across the world it cost three billion
US dollars and it took 13 years to
complete fast forward to today and today
you can sequence one human genome a
whole human genome on a single machine
like this one in less than 48 hours for
less than $1,000 per genome today
hundreds of thousands of people have had
their genome sequence with cancer with
rare disease and for clinical and for
research purposes so far forward another
15 years and it’s been projected based
on current trends that by the Year 2033
tens of millions of people will have had
their genome sequenced again for
research or clinical purposes or for
both the speed at which genome
sequencing technology is developing is
astounding and yet you will hear people
refer to genomics and genome sequencing
as high
it is not hype it is hope if you look at
how far we’ve come in the last 15 years
it seems virtually impossible to think
anything other than that within the next
15 years we are going to be using genome
sequencing to help us in the diagnosis
and treatment of all sorts of conditions
across our healthcare the question is no
longer whether this is going to happen
but how how we are going to deliver this
technology within our existing
healthcare system is a very serious and
real and large challenge that many
people are working very hard to address
right now and in addition to those
practical challenges you will often hear
people say that the genome sequencing
raises many ethical questions for us as
a society as some of these ethical
questions are about the potential impact
that the results are going to have on
individuals how are people going to cope
with the results and will they actually
act positively on them but if you think
about these questions about the impact
of personal results on individuals
they’re not just questions of ethics and
society they’re questions of psychology
they are psychological questions how
will people understand the results that
they receive how would this impact their
behavior how will it make them feel how
will they get the support that they need
afterwards and what support do they need
all of these are questions that the
science of psychology can and should be
used to address over the years I’ve
thought a lot about genetics and
psychology and the reason for this is
that my mom has bipolar disorder she was
diagnosed with bipolar disorder not long
after this photo of us was taken she is
a beautiful person and I have had many
lovely times with my mum and there have
also been many much harder times as well
I have visited her in psychiatric
hospital over and over again and I have
asked myself ever since I was very small
child how why did she end up developing
bipolar disorder what made her the way
she is why did she develop bipolar
disorder when other people didn’t and it
always felt like there was some kind of
genetic vulnerability in
that together with difficult things that
she experienced in her life had somehow
triggered something inside her that just
didn’t seem to be there in other people
you know sometimes we talk about what’s
more important is it nature or nurture
is it genes or environments and of
course it’s both its genes and
environments and we can even go beyond
this to say it’s genes via environments
understanding this has led me to ask if
my mom had known that she was
genetically predisposed to developing
bipolar disorder and if we had known
what those specific gene variants were
could something different have been done
to prevent or reduce the severity of her
symptoms could she have been given
different or more psychosocial support
to help her deal with early stressors in
her life could she have been spared the
trial-and-error approach to psychiatric
medications that sometimes don’t work
sometimes lead to unpleasant side
effects and often both and which you’ve
wanted to know she was a genetic risk
witness have helped her or hurt her
would it have made her feel empowered or
more stigmatized and would I have wanted
to know if I had inherited those same
gene variants from her for us all of
these were hypothetical questions only
because the complex interacting effects
of our genes and environments and our
life experiences on our mental health
are only just beginning to be understood
but our understanding of the role of
genomics in our physical health is more
advanced today we already use genomic
information about cancer to identify
some people or an increased genetic risk
of developing cancer in the future and
multi gene risk scores for heart disease
are really starting to show promise now
very soon we may be able to use genomic
information to identify people in the
general population who are at very
increased risk of developing cancer or
heart disease so that risk reducing
strategies can be made available to them
and they can take action to reduce their
risk long before they or their relatives
ever start showing symptoms or
developing advanced stage disease so the
hope is that genomic information is
going to empower people to take action
and reduce their disease risks
the concerns include that we’re going to
cause psychological harm instead of
empowering people are we actually just
going to make people feel stressed and
anxious by high-risk results and a
low-risk results going to falsely
reassure people and make them think that
they can eat and drink and smoke
whatever and however much they want how
can we know the answers to these
questions well we can do the research
let me give you just one example while I
was working at the Icahn School of
Medicine at Mount Sinai on the Upper
East Side of Manhattan in New York my
colleagues and I conducted the health
seat study in which we returned personal
results from genome sequencing 235
generally healthy individuals as a
psychologist on the team I worked
closely alongside my colleagues who
included bioinformaticians computational
biologists clinical geneticists and
genetic counselors and together we
worked as a team to design the research
right from the start so that in addition
to developing the genome sequencing
pipelines we also developed the
questionnaires in the interviews so that
we could interview patients participants
before they got their results and then
immediately afterwards and one week
afterwards and six months afterwards and
what did we find
did low-risk results lead to false
reassurance no we saw no evidence of
this did high risk results from genetic
risk scores for type 2 diabetes and
heart disease motivated people to change
their lifestyles nope we saw no evidence
of this either it hirez results from
other types of behaviors actually yes
quite a few people did discuss their
results with their clinicians and they
had various tests and procedures based
on their results and did high res
results cause any one distress in most
cases no but in one case yes and I’d
like to tell you a bit more about that
what this graph is showing you is
participants distress levels one week
after they got their personal genomic
results that the one week follow-up we
measured the stress using an adapted
version of the micro which is a widely
used measure of distress relating
specifically to personal genomic results
and each of the dots is a participant
and what you’re seeing is that
most participants scored very low or
zero distress but some of them scored a
little bit higher and one stood out in
particular highlighted here in the red
dot this participant was a young man in
his twenties and through the project
he’d been told that he had a rare
variant in his DNA that appeared to be
associated with very increased risk of
sudden cardiac death when we talked to
him in that six-month interview he told
us that he had indeed been very
distressed when he’d first got this
result as you can imagine he’d had an
appointment with a cardiologist he had
had various tests and procedures and on
the basis of that consultation and the
test results he had gradually become
reassured and over the months his
distress levels did come down so that by
the six-month follow-up they were much
lower however what also happened to this
participant is that he was also informed
in that first result session that he had
a very significantly increased genetic
risk of Alzheimer’s disease as well when
we talked to him in that six-month
follow-up
he told us that he hadn’t even heard the
outs homers result in the result session
he’d been so focused on the sudden
cardiac death result but over the months
as he dealt with the cardiac result his
attention had turned to the outs homers
result and in many ways six months later
he was now thinking more about the outs
homers result than the cardiac result
but we know because we measured
depression before and after he got his
results that he was not he had not
become clinically depressed and we also
know because of our measures and our
questionnaires and our interviews that
he did not regret learning this
information about himself so this was
one of the very first early studies to
start exploring the impact of genome
sequencing on individuals but what I
hope it shows you is the importance of
doing the research not only to develop
the technology but also to understand
what the impact of the technology is on
individuals within the next 15 years
many of you are going to be faced with a
question do you want to have your genome
sequenced and when that question comes
you will have to weigh up the benefits
and the harms and make a decision that
is right for you this is why we need
psychology as applied to genomics it is
only by doing this kind of research that
we’re truly going to come to understand
what the benefits and the harms and the
outcomes are for individuals and
therefore for society and by doing this
kind of research we will also come to
understand how we can maximize the
benefits and minimize the harms as we
start to deliver this technology within
our healthcare systems my personal hope
is that we will also soon be ready to
start translating psychiatric genomics
into personal information for
individuals so that we can start to
explore whether this is going to enable
us to do a better job of helping people
at risk of mental health issues like my
mum thank you [Applause]
very likely to be faced with a question
do you want to have your genome
sequenced and when that question comes
you’re going to have to weigh up the
benefits and the harms and make a
decision that is right for you you may
be asked this question because you are a
patient with a rare disease you may be
asked this question because you’re the
relative of a patient with cancer you
may be asked this question because you
are being invited to be a participant in
genomics research and you may be
considering this question because you’re
considering it as a consumer whatever
the context when that question comes you
are going to need to weigh up the
benefits and the harms and make a
decision that is right for you and your
family today what I’m going to be
talking to you about is genomics and
genome sequencing but what I hope to
convince you of is actually not the
importance of genomics itself but the
importance of psychology as applied to
genomics psychology is the scientific
study of the mind and behavior and it is
crucial to the field of genomics because
the way that you think the way that you
act and the way that you feel in
response to getting personal genomic
information about yourself is going to
be central to our understanding of the
value or utility of genome sequencing so
first of all what is your genome your
genome is your complete set of DNA
including all 20,000 of your genes it’s
packaged up into this familiar double
helix shape and you have a copy of your
genome inside almost all of the 20s that
trillions of cells that make up your
human body your genome acts like a kind
of instruction manual for your body and
it’s made out of these four chemical
units or letters called a T C and G
there are about three billion of these
letters in your genome and the order of
these letters is called your genome
sequence about 99.9% of the letters in
your genome are identical to every
single other persons on this planet now
it sounds really small but that not 0.1%
that differs between you and other
people is actually really important
if you think about it not point 1% of 3
billion is actually still 3 million and
those three million DNA variants
influence all sorts of things like what
she looked like for disease risks and
genome sequencing is a technology that
allows scientists to read the order of
the letters in your genome to do this a
blood or saliva sample is taken the
sample is sent to a laboratory where the
DNA is extracted the DNA is then
processed by DNA sequencing machine and
at the end of this process a list of 3
billion letters is produced including
that 3 million that differs between you
and other people
now this less than list of letters that
were data is potentially incredibly
powerful but actually it tells you
precisely nothing until it’s been
interpreted to interpret your data
scientists have to go through those 3
million variants in your genome to find
the ones that might be important for
your health and they do this by
comparing the variants in your genome
with those in large databases that are
compiled of the variants from lots of
other people’s genomes just 15 years ago
only one human genome on the planet had
been sequenced and to sequence the human
genome first human genome involved
dozens of laboratories like this one
across the world it cost three billion
US dollars and it took 13 years to
complete fast forward to today and today
you can sequence one human genome a
whole human genome on a single machine
like this one in less than 48 hours for
less than $1,000 per genome today
hundreds of thousands of people have had
their genome sequence with cancer with
rare disease and for clinical and for
research purposes so far forward another
15 years and it’s been projected based
on current trends that by the Year 2033
tens of millions of people will have had
their genome sequenced again for
research or clinical purposes or for
both the speed at which genome
sequencing technology is developing is
astounding and yet you will hear people
refer to genomics and genome sequencing
as high
it is not hype it is hope if you look at
how far we’ve come in the last 15 years
it seems virtually impossible to think
anything other than that within the next
15 years we are going to be using genome
sequencing to help us in the diagnosis
and treatment of all sorts of conditions
across our healthcare the question is no
longer whether this is going to happen
but how how we are going to deliver this
technology within our existing
healthcare system is a very serious and
real and large challenge that many
people are working very hard to address
right now and in addition to those
practical challenges you will often hear
people say that the genome sequencing
raises many ethical questions for us as
a society as some of these ethical
questions are about the potential impact
that the results are going to have on
individuals how are people going to cope
with the results and will they actually
act positively on them but if you think
about these questions about the impact
of personal results on individuals
they’re not just questions of ethics and
society they’re questions of psychology
they are psychological questions how
will people understand the results that
they receive how would this impact their
behavior how will it make them feel how
will they get the support that they need
afterwards and what support do they need
all of these are questions that the
science of psychology can and should be
used to address over the years I’ve
thought a lot about genetics and
psychology and the reason for this is
that my mom has bipolar disorder she was
diagnosed with bipolar disorder not long
after this photo of us was taken she is
a beautiful person and I have had many
lovely times with my mum and there have
also been many much harder times as well
I have visited her in psychiatric
hospital over and over again and I have
asked myself ever since I was very small
child how why did she end up developing
bipolar disorder what made her the way
she is why did she develop bipolar
disorder when other people didn’t and it
always felt like there was some kind of
genetic vulnerability in
that together with difficult things that
she experienced in her life had somehow
triggered something inside her that just
didn’t seem to be there in other people
you know sometimes we talk about what’s
more important is it nature or nurture
is it genes or environments and of
course it’s both its genes and
environments and we can even go beyond
this to say it’s genes via environments
understanding this has led me to ask if
my mom had known that she was
genetically predisposed to developing
bipolar disorder and if we had known
what those specific gene variants were
could something different have been done
to prevent or reduce the severity of her
symptoms could she have been given
different or more psychosocial support
to help her deal with early stressors in
her life could she have been spared the
trial-and-error approach to psychiatric
medications that sometimes don’t work
sometimes lead to unpleasant side
effects and often both and which you’ve
wanted to know she was a genetic risk
witness have helped her or hurt her
would it have made her feel empowered or
more stigmatized and would I have wanted
to know if I had inherited those same
gene variants from her for us all of
these were hypothetical questions only
because the complex interacting effects
of our genes and environments and our
life experiences on our mental health
are only just beginning to be understood
but our understanding of the role of
genomics in our physical health is more
advanced today we already use genomic
information about cancer to identify
some people or an increased genetic risk
of developing cancer in the future and
multi gene risk scores for heart disease
are really starting to show promise now
very soon we may be able to use genomic
information to identify people in the
general population who are at very
increased risk of developing cancer or
heart disease so that risk reducing
strategies can be made available to them
and they can take action to reduce their
risk long before they or their relatives
ever start showing symptoms or
developing advanced stage disease so the
hope is that genomic information is
going to empower people to take action
and reduce their disease risks
the concerns include that we’re going to
cause psychological harm instead of
empowering people are we actually just
going to make people feel stressed and
anxious by high-risk results and a
low-risk results going to falsely
reassure people and make them think that
they can eat and drink and smoke
whatever and however much they want how
can we know the answers to these
questions well we can do the research
let me give you just one example while I
was working at the Icahn School of
Medicine at Mount Sinai on the Upper
East Side of Manhattan in New York my
colleagues and I conducted the health
seat study in which we returned personal
results from genome sequencing 235
generally healthy individuals as a
psychologist on the team I worked
closely alongside my colleagues who
included bioinformaticians computational
biologists clinical geneticists and
genetic counselors and together we
worked as a team to design the research
right from the start so that in addition
to developing the genome sequencing
pipelines we also developed the
questionnaires in the interviews so that
we could interview patients participants
before they got their results and then
immediately afterwards and one week
afterwards and six months afterwards and
what did we find
did low-risk results lead to false
reassurance no we saw no evidence of
this did high risk results from genetic
risk scores for type 2 diabetes and
heart disease motivated people to change
their lifestyles nope we saw no evidence
of this either it hirez results from
other types of behaviors actually yes
quite a few people did discuss their
results with their clinicians and they
had various tests and procedures based
on their results and did high res
results cause any one distress in most
cases no but in one case yes and I’d
like to tell you a bit more about that
what this graph is showing you is
participants distress levels one week
after they got their personal genomic
results that the one week follow-up we
measured the stress using an adapted
version of the micro which is a widely
used measure of distress relating
specifically to personal genomic results
and each of the dots is a participant
and what you’re seeing is that
most participants scored very low or
zero distress but some of them scored a
little bit higher and one stood out in
particular highlighted here in the red
dot this participant was a young man in
his twenties and through the project
he’d been told that he had a rare
variant in his DNA that appeared to be
associated with very increased risk of
sudden cardiac death when we talked to
him in that six-month interview he told
us that he had indeed been very
distressed when he’d first got this
result as you can imagine he’d had an
appointment with a cardiologist he had
had various tests and procedures and on
the basis of that consultation and the
test results he had gradually become
reassured and over the months his
distress levels did come down so that by
the six-month follow-up they were much
lower however what also happened to this
participant is that he was also informed
in that first result session that he had
a very significantly increased genetic
risk of Alzheimer’s disease as well when
we talked to him in that six-month
follow-up
he told us that he hadn’t even heard the
outs homers result in the result session
he’d been so focused on the sudden
cardiac death result but over the months
as he dealt with the cardiac result his
attention had turned to the outs homers
result and in many ways six months later
he was now thinking more about the outs
homers result than the cardiac result
but we know because we measured
depression before and after he got his
results that he was not he had not
become clinically depressed and we also
know because of our measures and our
questionnaires and our interviews that
he did not regret learning this
information about himself so this was
one of the very first early studies to
start exploring the impact of genome
sequencing on individuals but what I
hope it shows you is the importance of
doing the research not only to develop
the technology but also to understand
what the impact of the technology is on
individuals within the next 15 years
many of you are going to be faced with a
question do you want to have your genome
sequenced and when that question comes
you will have to weigh up the benefits
and the harms and make a decision that
is right for you this is why we need
psychology as applied to genomics it is
only by doing this kind of research that
we’re truly going to come to understand
what the benefits and the harms and the
outcomes are for individuals and
therefore for society and by doing this
kind of research we will also come to
understand how we can maximize the
benefits and minimize the harms as we
start to deliver this technology within
our healthcare systems my personal hope
is that we will also soon be ready to
start translating psychiatric genomics
into personal information for
individuals so that we can start to
explore whether this is going to enable
us to do a better job of helping people
at risk of mental health issues like my
mum thank you [Applause]
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