Children's Hospitals Today - Spring 2017 - 22

FEATURE / GENETICS

full of reasons why the insurers should
change their minds. Some insurance companies
say pharmacogenomics is experimental and
investigational. But medical experts disagree.
"We know it's not investigational, but there
are insurance companies that are still willing
to go through trial and error and spend two
years trying to find the right medication, which
can be detrimental to the patient," Manzi says.
"If we had known the genetics up front, we may
have started a more appropriate dose or drug.
Especially if what we're trying to treat can be
life threatening or have high morbidity." The
costs for testing are coming down to the point
where some families are willing to pay out of
their own pocket if they have to, she says.

The cost of re-testing
Manzi says now, when providers run a laboratory
test, the majority of insurance companies will
pay to run it once and interpret it once. But the
question is, will they pay for it a second time?
Here's the issue: the tests today are based
on the pharmacogenes for which there are
current CPIC guidelines. That is a limited
number of genes. However, there are "hundreds
and hundreds" of other pharmacogenes that
clinicians will learn more about over time.
"Once we know more about a patient over
time, we may need to re-test him or her," Manzi
says. "Sometimes, we can take the data and
rerun it through the pipeline, but other times,
we have to rerun the test itself. And then, is the
DNA available still, or do we have to get a new
blood draw? If we do, is that a new charge? Will
the insurance company pay for that a second
time even though we've got a better mechanism
now?" This is a challenge, particularly given the
nature of pharmacogenomics, she adds.
"Payment models in the United States-
particularly around lifelong results that require
interpretation over time-are lacking," she
says. "So, we have to come to grips with how
we handle genetic results over the lifetime of
patients. And it isn't just about pharmacogenes,
it's about every gene, including disease states; all
those things that may be informed by genetics."

Right mix, right time
Relling says childhood is just the right time to
start with pharmacogenomic testing. And there

22

CHILDREN'S HOSPITAL S TODAY Spring 2017

"Find the project where
you have a very actionable
gene-drug-pair, like
we found in psychiatry.
And then find a clinical
subspecialty to pilot it. If
you're successful, other
people will follow, and it
will slowly spread."
-Sander A. Vinks,
Cincinnati Children's
Hospital Medical Center

are programs for babies providing genotypes
and sequences at birth to see how that affects
outcomes. "We could test a child and have
genetic information that could be helpful for
guiding all prescribing as he or she moves
through adolescence, young adulthood,
middle adulthood and elderly age-the
lifetime of that patient," Relling says.
"People will have baseline genetic testing
hopefully as newborns that follows them
throughout life," says Manzi. "But the
question is, how do you get that from one
electronic health record to another? Genetic
results are not small. They are unwieldy
sometimes, and how do you store that data?"
Other considerations: How do you protect
the data if you're going to put it in the cloud?
What are the mechanisms for security and
making sure that all HIPAA-compliant
statutes are followed? There's a lot of work
to be done on how providers share those
results, Manzi says.
This work begins with identifying one
system that can manage the data throughout
the patient's life. "We don't have a single
electronic health record per patient in the
United States, or in any country," she says.
"And that's the fundamental problem. We
need to provide a uniform, comprehensive
lifetime health care record to really make
this effort work."

Start with CPIC

Privacy and the future

GETTING STARTED

3 expert tips

Find a mentor hospital
"St. Jude's was a lifesaver
when we first started our
program. The team had
been there and done this,
and they were helpful
when our program went
live. Anyone considering
doing this should find a
mentor institution and
particularly one with the
same EHR vendor."
-Shannon Manzi, Boston
Children's Hospital

Grab the
low-hanging fruit

"The Clinical
Pharmacogenetics
Implementation
Consortium (CPIC) is a
great organization to start
with. It provides dosing
recommendations, and
it has an informatics
group to help with
implementation in the
EMR. They don't tell a
hospital whether to test or
not, but if an organization
does start testing, the
teams will know what to
do with the results based
on the CPIC guidelines."
-Laura B. Ramsey,
Cincinnati Children's
Hospital Medical Center

Some patients and families have expressed
concern about the privacy-and impact-
of the test results. While there are some
exceptions, currently, patients who undergo
genetic testing are protected by the Genetic
Information Nondiscrimination Act of 2008
(GINA), which prohibits genetic information
discrimination in employment or health
insurance based on genetic testing. However,
there is no provision for life- or long-term
care insurance at this point, Manzi says.
And some pharmacogenomic markers are
also disease state indicators, which can
lead to a question of ethics and insurability.
"Everyone wants to know if they can take a
medication or not, but not everyone wants to
know, 'I'm 23 years old right now, and I have
an increased risk of developing Alzheimer's



Table of Contents for the Digital Edition of Children's Hospitals Today - Spring 2017

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