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UNC
scientists funded to study genome sequencing in clinical settings
James P.
Evans, MD, PhD, is the principal investigator of a four-year $6.4
million grant to establish an effort named the North Carolina
Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES).
”We’re
thrilled to have the opportunity to investigate how best to use the
new technologies of rapid DNA sequencing in patient care. In this
effort we will sequence all of the genes in each of about 750
patients to determine how well this technology performs as a
diagnostic tool to figure out why these patients are ill,"
said Dr. Evans. "We will also carefully investigate how
patients and their doctors use this information in both a medical
and a non-medical context."
Other
UNC scientists leading specific components of the grant are:
Jonathan Berg, MD, PhD; Gail Henderson, PhD; Karen Weck-Taylor, MD,
PhD; and Kirk Wilhelmsen, MD, PhD. Read
more.

L-R:
Drs. James Evans and Jonathan Berg
“We now
have powerful technology that can provide us with much genetic data
about an individual. How do we move this technology into the
clinical practice arena and successfully address the technical,
logistical, psychosocial and ethical issues that arise from its
use?” asks Dr. Evans.
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Catherine Fine, MS, CGC, is a Clinical Assistant
Professor of Genetics and a Certified Genetic Counselor in the
Cancer and Adult Genetics Program at UNC. She, along with Drs.
James Evans, Robert Sandler, and Timothy Sadiq, meet with patients
and families as part of the High Risk Gastrointestinal Cancer
Clinic.
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High Risk
Gastrointestinal
Cancer Clinic Offers Genetic Services
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Do you
have patients who have a personal and/or family history of
colorectal and other cancers and feel they may be at risk?
The UNC High-Risk Gastrointestinal Cancer Clinic provides risk
assessment, genetic counseling services, genetic testing, individualized
screening and treatment protocols incorporating the latest
evidence-based practices.
"The
goal of the clinic is to provide collaborative care for families at
high risk of developing gastrointestinal cancer," says
Catherine Fine. "We provide families and referring doctors
with the information that they need to make informed choices,
assess risks and plan for the future."
For more
information or to refer a patient call 919-843-0758 or fax
919-966-9185.
View
clinic flyer.
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The power to
help, hurt and confuse: direct-to-consumer whole genome testing
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In a
recent commentary published in the Journal of the American Medical
Association, co-authors James P. Evans, MD, PhD, and Jonathan S.
Berg, MD, PhD, argue that whole genome and whole exome sequencing
technology “will routinely uncover both trivial and important medical
results, both welcome and unwelcome…and presents the medical
community with new challenges." Read
more.
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