October 24, 2025 • 8 mins
The Division of Genetics and Genomics at Boston Children’s Hospital provides comprehensive clinical care including diagnostics, genetic counseling, and individualized management in concert with other specialties for people of all ages. As one of the largest pediatric genetics practices in the country, this key division of BCH has experience with both common conditions and very rare conditions affecting just a few hundred children in the world.
Dr. Wendy Chung, Chief of Pediatrics at Boston Children's Hospital as well as Harvard Medical School's Mary Ellen Avery Professor of Pediatrics, explains how her team finds answers for some of the most complex and hard-to-diagnose genetic conditions, sometimes applying new technologies through our research labs when existing genetic tests are negative or inconclusive. Dr. Chung speaks with Carol Massar and Tim Stenovec on Bloomberg Businessweek Daily.
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Episode Transcript
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Speaker 1 (00:02):
Bloomberg Audio Studios, Podcasts, radio News.
Speaker 2 (00:07):
You're listening to Bloomberg business Week with Carol Masser and
Tim Stenoveek on Bloomberg Radio.
Speaker 1 (00:14):
Over the summer, on Bloomberg, opinion piece pointed out that
new research shows Americans need greater access to genetic testing
and stronger legal protections against genetic discrimination. According to a
recent study that was published in the American Journal of
Human Genetics Now, the study of DNA samples from the
Penn Medicine Biobank found that a quarter of adults under
(00:35):
the age of forty who had been admitted to the
Penn Medicine ICU carried a mutation that would have been
relevant to their treatment. So it's just talking about the
importance of understanding your genetics and what it could mean for.
Speaker 2 (00:46):
Health, and that genetic testing what becomes available changes so frequently,
I mean year to year, they can identify more and more.
Speaker 1 (00:51):
Yeah, exactly, And our next guest has a vast body
of work when it comes to the field of genetics.
Let's get to our weekly BusinessWeek Women's Health segment, where
we focus on key issues and developing technologies impacting the
present and future of women's health around the world and
really in many ways, everybody's health around the world. Joining
us right now is doctor Wendy Chung, Chief of Pediatrics
at Boston Children's Hospital. She is the Mary Ellen Avery
(01:14):
Professor of Pediatrics at Harvard Medical School, and she joins
us from London, where it's a little bit later. So
thank you so much, doctor Chung for joining us. You
have spent more than two decades as a clinical and
molecular geneticist and have directed many NIH funded research programs.
Got to ask, are we at a good time for
(01:35):
healthcare advantage advancements excuse me? Or are we possibly going backwards?
Speaker 3 (01:41):
We have amazing opportunities, amazing opportunities specifically around genetics, both
in terms of diagnostics, predicting and being able to tailor
health and health prevention and health treatment based on that,
in new things in terms of therapeutics, especially in the
rare disease space. So it couldn't be a more exciting
time in terms of the ability to scale this, to
(02:03):
use data, to do it more accurately, and to get
it to more people where they're at.
Speaker 2 (02:07):
It sounds exciting and the opportunities sound exciting, But we're
at a point with the United States, where we don't
have great outcomes compared to the rest of the world.
We lag when it comes to other countries and their
health outcomes. Why is that? From your view?
Speaker 3 (02:22):
In many cases it's due to access. And as we
think about this, we're trying to think of ways that
we can provide care anywhere. So are there ways to
think about how do we get access to patients where
they are in ways that can fit in with their
lives and get them really news they can use is
the way I think about it, when they can use
it just in time to be able to do it,
(02:43):
ingest it, understand it, and apply it in ways that
really fit in with their life. We have amazing opportunities,
but we don't do them equitably for everyone.
Speaker 1 (02:51):
Well, you know, doctor Chung Tim and I spend so
much time talking about the case shaped economy, right, and
that on an economic level, not everybody benefits from the
US economy, even in good time. So that obviously carries
over to healthcare. If you could change one thing, what
would it be that would make healthcare more equitable?
Speaker 3 (03:10):
So if you can imagine this future state, I've been
running a study in New York City called Guardian genomic
uniform screaming against rare diseases and all newborns for a
baby when they get their heel prick right after bruth
to be able to screen for disorders that are treatable
and curable, things like penal keaton area. Now, can we
think about blowing that up in a good way by
(03:30):
being able to do genome sequencing to identify all the
treatable conditions so that everyone gets access to this and
for those same children, if they get sick and have
symptoms at some point in the future, reinterrogate that genomic
information to make the diagnosis essentially instantaneously. So if they're
having breathing problems, growing problems, problems with developments, not hitting
(03:52):
their milestones, can you get the diagnosis very very quickly
to start the journey and make sure that diagnostic odyssey
doesn't go on for very long to start the treatment.
Speaker 1 (04:01):
All right, logical question or follow up? Why don't we
do that? Is it just too expensive or what?
Speaker 2 (04:06):
You know? It's funny.
Speaker 1 (04:07):
I was talking to an individual who's from South Korea
or has family back in South Korea and says, you know,
every year you can go and you can get a
body scan head to toe, not crazy expensive like it
would be here in the United States, and you can
get potentially early signs of something that's that's not good.
So I'm just wondering when it comes to why don't
(04:27):
we do these genetic testing? Is it not available? Is
it too expensive?
Speaker 3 (04:31):
So it is being done on a research baso's on
a very small number of newborns right now, but all
throw down the gauntlet. I think we can drive down
the price of doing being able to do this, and
right now, let's just say it costs thousand dollars per
baby to be able to do this. That's probably not
something that we can scale at three point six million
babies born each year, but if we can drive down
the cost by fifty percent seventy five percent, I do
(04:54):
think if you look at the health economics in terms
of the return on investment, it easily pays for itself
over it to in your period.
Speaker 2 (05:01):
What about when it comes to using that data for
technologies such as gene editing. And we spoke to Jennifer DOWDNA,
the twenty twenty Nobel Laureate a few months ago at
our Bloomberg Technology conference back in San Francisco. She was
very optimistic that we will see this happening more and
more in humans. Will this become just the standard of
care in your view for kids who have genetic disorders.
Speaker 3 (05:25):
So I do think for these single gene conditions, platform
technologies such as what doctor DOWDNA and others have developed,
they're not quite ready for prime time to just dial
in any particular genetic edit and fix it. But we
are getting towards those platforms to be able to do this,
and I do think that over the next decade we're
going to make tremendous strides. And I do think from
(05:45):
a regulatory point of view, the FDA and other regulatory
agencies understand that within rear diseases, you need to think
about platforms and being able to use information for one
rare disease in terms of treatments for others, and to
understand the safety profile and use that across conditions. And
so for the seven thousand rare diseases, I don't think
we have to solve the problems seven thousand times. I
(06:07):
think it's going to come to a much simpler number
of solutions.
Speaker 1 (06:10):
Hey, one thing we wanted to ask you about recent
article in Nature. You were quoted that MAHA's spotlight on
children's health is welcome and that this could be the
decade of the Kids, and that would be an amazing thing.
How So, especially when we see an administration a Secretary
of HHS pushing back on things like vaccines and other
(06:34):
policies that research has showed has definitely improved health in
the United States.
Speaker 3 (06:39):
So I think if you think about the technology that
I talked about with newborn screening, it can be applied
to any number of things for children. So that again,
if you know where the pain points are, if you
know what the susceptibilities, you can think about everything from
how a child can learn better, if they're going to
have certain challenges in terms of understanding learning behavior, how
to be able to tailor things to them, if they're
(07:01):
going to have problems in terms of a tendency towards
type one diabetes, asthma, even cancer in the future, how
do you tailor their surveillance the particular things we monitor,
how frequently we monitor, So it's not a one size
fits all for everyone. You really get more out of
the energy and the money you're putting into it because
it's tailored for the person. And I do think both
(07:23):
in terms of being able to have biomarkers looking at
disease progression and genomics to guide you, we can do
much better because we have enough data now to be
able to understand those patterns and profiles.
Speaker 1 (07:33):
We've run out of time, but hopefully come back real
soon because I know emerging technologies, whether it's artificial intelligence
or quantum computing, which all of a sudden this week
we're talking a lot about, are going to be very
important metrics when it comes to disease predictability. So please
please come back really soon. Doctor Wendy Chung, chief of
pediatrics at Boston Children's Hospital. She is the Mary Ellen
(07:53):
Avery Professor of Pediatrics at Harvard Medical School, and she's
joining us from London
Bloomberg Audio Studios, Podcasts, radio News.
Speaker 2 (00:07):
You're listening to Bloomberg business Week with Carol Masser and
Tim Stenoveek on Bloomberg Radio.
Speaker 1 (00:14):
Over the summer, on Bloomberg, opinion piece pointed out that
new research shows Americans need greater access to genetic testing
and stronger legal protections against genetic discrimination. According to a
recent study that was published in the American Journal of
Human Genetics Now, the study of DNA samples from the
Penn Medicine Biobank found that a quarter of adults under
(00:35):
the age of forty who had been admitted to the
Penn Medicine ICU carried a mutation that would have been
relevant to their treatment. So it's just talking about the
importance of understanding your genetics and what it could mean for.
Speaker 2 (00:46):
Health, and that genetic testing what becomes available changes so frequently,
I mean year to year, they can identify more and more.
Speaker 1 (00:51):
Yeah, exactly, And our next guest has a vast body
of work when it comes to the field of genetics.
Let's get to our weekly BusinessWeek Women's Health segment, where
we focus on key issues and developing technologies impacting the
present and future of women's health around the world and
really in many ways, everybody's health around the world. Joining
us right now is doctor Wendy Chung, Chief of Pediatrics
at Boston Children's Hospital. She is the Mary Ellen Avery
(01:14):
Professor of Pediatrics at Harvard Medical School, and she joins
us from London, where it's a little bit later. So
thank you so much, doctor Chung for joining us. You
have spent more than two decades as a clinical and
molecular geneticist and have directed many NIH funded research programs.
Got to ask, are we at a good time for
(01:35):
healthcare advantage advancements excuse me? Or are we possibly going backwards?
Speaker 3 (01:41):
We have amazing opportunities, amazing opportunities specifically around genetics, both
in terms of diagnostics, predicting and being able to tailor
health and health prevention and health treatment based on that,
in new things in terms of therapeutics, especially in the
rare disease space. So it couldn't be a more exciting
time in terms of the ability to scale this, to
(02:03):
use data, to do it more accurately, and to get
it to more people where they're at.
Speaker 2 (02:07):
It sounds exciting and the opportunities sound exciting, But we're
at a point with the United States, where we don't
have great outcomes compared to the rest of the world.
We lag when it comes to other countries and their
health outcomes. Why is that? From your view?
Speaker 3 (02:22):
In many cases it's due to access. And as we
think about this, we're trying to think of ways that
we can provide care anywhere. So are there ways to
think about how do we get access to patients where
they are in ways that can fit in with their
lives and get them really news they can use is
the way I think about it, when they can use
it just in time to be able to do it,
(02:43):
ingest it, understand it, and apply it in ways that
really fit in with their life. We have amazing opportunities,
but we don't do them equitably for everyone.
Speaker 1 (02:51):
Well, you know, doctor Chung Tim and I spend so
much time talking about the case shaped economy, right, and
that on an economic level, not everybody benefits from the
US economy, even in good time. So that obviously carries
over to healthcare. If you could change one thing, what
would it be that would make healthcare more equitable?
Speaker 3 (03:10):
So if you can imagine this future state, I've been
running a study in New York City called Guardian genomic
uniform screaming against rare diseases and all newborns for a
baby when they get their heel prick right after bruth
to be able to screen for disorders that are treatable
and curable, things like penal keaton area. Now, can we
think about blowing that up in a good way by
(03:30):
being able to do genome sequencing to identify all the
treatable conditions so that everyone gets access to this and
for those same children, if they get sick and have
symptoms at some point in the future, reinterrogate that genomic
information to make the diagnosis essentially instantaneously. So if they're
having breathing problems, growing problems, problems with developments, not hitting
(03:52):
their milestones, can you get the diagnosis very very quickly
to start the journey and make sure that diagnostic odyssey
doesn't go on for very long to start the treatment.
Speaker 1 (04:01):
All right, logical question or follow up? Why don't we
do that? Is it just too expensive or what?
Speaker 2 (04:06):
You know? It's funny.
Speaker 1 (04:07):
I was talking to an individual who's from South Korea
or has family back in South Korea and says, you know,
every year you can go and you can get a
body scan head to toe, not crazy expensive like it
would be here in the United States, and you can
get potentially early signs of something that's that's not good.
So I'm just wondering when it comes to why don't
(04:27):
we do these genetic testing? Is it not available? Is
it too expensive?
Speaker 3 (04:31):
So it is being done on a research baso's on
a very small number of newborns right now, but all
throw down the gauntlet. I think we can drive down
the price of doing being able to do this, and
right now, let's just say it costs thousand dollars per
baby to be able to do this. That's probably not
something that we can scale at three point six million
babies born each year, but if we can drive down
the cost by fifty percent seventy five percent, I do
(04:54):
think if you look at the health economics in terms
of the return on investment, it easily pays for itself
over it to in your period.
Speaker 2 (05:01):
What about when it comes to using that data for
technologies such as gene editing. And we spoke to Jennifer DOWDNA,
the twenty twenty Nobel Laureate a few months ago at
our Bloomberg Technology conference back in San Francisco. She was
very optimistic that we will see this happening more and
more in humans. Will this become just the standard of
care in your view for kids who have genetic disorders.
Speaker 3 (05:25):
So I do think for these single gene conditions, platform
technologies such as what doctor DOWDNA and others have developed,
they're not quite ready for prime time to just dial
in any particular genetic edit and fix it. But we
are getting towards those platforms to be able to do this,
and I do think that over the next decade we're
going to make tremendous strides. And I do think from
(05:45):
a regulatory point of view, the FDA and other regulatory
agencies understand that within rear diseases, you need to think
about platforms and being able to use information for one
rare disease in terms of treatments for others, and to
understand the safety profile and use that across conditions. And
so for the seven thousand rare diseases, I don't think
we have to solve the problems seven thousand times. I
(06:07):
think it's going to come to a much simpler number
of solutions.
Speaker 1 (06:10):
Hey, one thing we wanted to ask you about recent
article in Nature. You were quoted that MAHA's spotlight on
children's health is welcome and that this could be the
decade of the Kids, and that would be an amazing thing.
How So, especially when we see an administration a Secretary
of HHS pushing back on things like vaccines and other
(06:34):
policies that research has showed has definitely improved health in
the United States.
Speaker 3 (06:39):
So I think if you think about the technology that
I talked about with newborn screening, it can be applied
to any number of things for children. So that again,
if you know where the pain points are, if you
know what the susceptibilities, you can think about everything from
how a child can learn better, if they're going to
have certain challenges in terms of understanding learning behavior, how
to be able to tailor things to them, if they're
(07:01):
going to have problems in terms of a tendency towards
type one diabetes, asthma, even cancer in the future, how
do you tailor their surveillance the particular things we monitor,
how frequently we monitor, So it's not a one size
fits all for everyone. You really get more out of
the energy and the money you're putting into it because
it's tailored for the person. And I do think both
(07:23):
in terms of being able to have biomarkers looking at
disease progression and genomics to guide you, we can do
much better because we have enough data now to be
able to understand those patterns and profiles.
Speaker 1 (07:33):
We've run out of time, but hopefully come back real
soon because I know emerging technologies, whether it's artificial intelligence
or quantum computing, which all of a sudden this week
we're talking a lot about, are going to be very
important metrics when it comes to disease predictability. So please
please come back really soon. Doctor Wendy Chung, chief of
pediatrics at Boston Children's Hospital. She is the Mary Ellen
(07:53):
Avery Professor of Pediatrics at Harvard Medical School, and she's
joining us from London
Hosts And Creators
Tim Stenovec
Carol Massar
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