32 | SEPTEMBER 1, 2016 | GENengnews.com | Genetic Engineering & Biotechnology News
help clinicians work in accordance with the
latest genomic knowledge. One such inter-
mediary is the Clinical Pharmacogenetics
Implementation Consortium (CPIC), an or-
ganization working to streamline the process
of translating genetic test results into gene-
based prescription recommendations.
"The goal of the CPIC is to facilitate the
process to apply pharmacogenetics to clini-
cal practice by developing guidelines for cli-
nicians," states Kelly E. Caudle, Pharm.D.,
Ph.D., CPIC coordinator, St. Jude Children's
Research Hospital. "We do not tell clini-
cians if genetics testing should be ordered,
but rather what to do with the information
when it is available." The CPIC strives to
provide clear, concise information for pro-
viders, explaining how genetic data applies
to their patients.
"A genetic test is unlike a blood glucose
test, which is merely a snapshot of a dynamic
situation," Dr. Caudle continues. "Genetic
results follow a patient for a lifetime." Hence,
genetic information needs to be entered into
a patient's electronic health record (EHR) in
a time-independent way. When a physician
orders a drug for a patient 15 years after the
genetic test was added, an alert needs to in-
form the clinician about the results of genet-
ics testing in relation to the treatment.
Pharmacogenetics
Informs
Clinical Practice
TRANSLATIONAL MEDICINE
Continued from page 1
The CYP2D6 gene, depicted at the top of this image as a series of numbered black boxes (exons), codes for an enzyme that metabolizes a quarter of
all prescribed drugs. Below this graphic are individual single-molecule real-time (SMRT) sequencing reads, each about 5 kilobases in length, for five
unidentified patient samples. These reads, obtained via Pacific Biosciences technology, show that CYP2D6 variants are widespread. Green: adenine;
orange: guanine; blue: cytosine; red: thymine. Enlarged section: heterozygous guanine/cytosine variant, with its accompanying SMRT sequencing
reads. Image courtesy of Stuart A. Scott, Ph.D., and Yao Yang, Ph.D., of the Icahn School of Medicine at Mount Sinai.
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