Children's Hospitals Today - Spring 2022 - 11

EVERYDAY HERO / ROUNDS
Detecting difficult diagnoses
A pediatric geneticist helps patients and families understand
what they're facing during challenging times.
OVER A CAREER spanning
more than 25 years in
pediatric medicine, Paul
Levy's work resembles that
of a medical detective. But
beyond diagnosing mysterious
illnesses, Levy, M.D., pediatric
geneticist, Children's Hospital
at Montefiore (CHAM) in
Bronx, New York, is known
for the bond he shares with
his patients. He discusses
his dedication to patients and
their families, the changes
he's witnessed in genetic
medicine and what's next in
the field.
SEEING ADVANCEMENTS:
" The falling costs associated
with sequencing have been
revolutionary. Changes in
technology allowed for nextgeneration
sequencing-we
went from being able to
sequence only one gene at
a time to sequencing many
genes at once. At the same
time, the costs decreased.
Overnight, states that were
previously screening infants
for only two or three disorders
could suddenly screen for 30
or more. Today, that number
is up to 50, and it didn't cost a
lot more. "
CHANGES ON THE HORIZON:
" There's a variant in a gene
that CRISPR can edit, and
it acts like a spell check-if
you spell a word wrong, it
automatically corrects it.
In a similar manner, if you
introduce the machinery into
cells, the DNA that needs
correction will be edited and
then the cell can produce the
right protein rather than a
protein that does not work and
causes disease. I can see this
approach being effective in
treating most of the inherited
metabolic disorders for which
we currently screen, including
urea cycle disorders, sickle
cell, Tay-Sachs disease,
phenylketonuria and cystic
fibrosis. Kids would be born
with it, but we'll be able to
correct those disorders.
We're not far off from that
being reality. "
BUILDING RELATIONSHIPS:
" The connections with
patients and families are the
motivation to be in medicine
in the first place. I enjoy being
there to help people when
they need it. When I was in
medical school, I met some
amazing people-patients and
families. I loved interacting
with them, learning from
them and being able to
do little things for them-
anything that could make
their lives a little bit better
that day. My patients with
inherited metabolic disorders
can get really sick quickly, so
parents need to get a hold of
me because I'll need to see
them in the emergency room.
In some of those disorders,
the kids could die if they got
really sick, so they call me at
any time-everyone has my
cell number. "
MEMBER UPDATES
ADMINISTRATOR NEWS
Akron Children's Hospital
named Tina Speicher vice
president, total rewards.
Children's Hospital of
Richmond at VCU named
Shari Barkin, M.D., physicianin-chief
and chair of the
department of pediatrics.
Children's Minnesota named
James C. Burroughs II to senior
vice president, government
and community relations, chief
equity and inclusion officer.
Connecticut Children's named
Bob Duncan, MBA, executive
vice president and chief
operating officer.
Nemours Children's Health in
Wilmington, Delaware, named
Karen Marie Wilding chief
value officer.
RESEARCH NEWS
Nominate an Everyday
Hero. Email magazine
@childrenshospitals.org.
The Hospital for Sick Children
in Toronto, Canada, found
that integrating machine
learning into clinical
decision-making improved
test ordering and workflows
in the pediatric emergency
department. A study,
published in JAMA Network,
leveraged machine-learning
models to predict the need
for services such as urinary
tests, electrocardiograms,
ultrasounds, bilirubin level
testing and radiographs.
Autonomously ordering these
common ED tests streamlined
care for 22% of all patient visits
and enabled test results 165
minutes faster than usual.
CHILDREN'S HOSPITALS TODAY Spring 2022
11
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Children's Hospitals Today - Spring 2022

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