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Expert
Panel Convened To Develop Guidelines For Evaluating Human Genome
Epidemiology Studies
Office
of Genomics and Disease Prevention,
CDC
Atlanta,
Georgia
January
29-30, 2001
August
2002 Update |
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The
CDC's
Office
of Genomics and Disease Prevention, the National Cancer
Institute, and the National Institute of Environmental Health
Sciences convened an expert panel workshop on January 29-30, 2001,
to develop guidelines and recommendations for the evaluation and
integration of data from human genome epidemiologic studies.
Human
genome epidemiology (HuGE) is the
science that helps translate gene discoveries to disease prevention
by synthesizing population-based data about gene-disease relationships,
gene-environment interactions, and interventions. HuGE
studies are a critical first step in using genetic information
to improve health and prevent disease.
As
information from the Human Genome Project leads to new gene
discoveries, population-based epidemiologic studies are needed
to describe the population distribution of gene variants and
their interactions with modifiable risk factors to provide the
basis for new public health interventions.
Epidemiologic studies are also needed for the clinical
validation of new genetic tests and to assess the clinical utility
of genetic information.
Experts
in genetics, epidemiology, statistics, laboratory medicine,
prevention effectiveness, and social sciences participated in
a series of plenary presentations. Speakers presented examples
drawn from prior and ongoing work in cancer, cardiovascular
disease, HIV infection, and other areas to illustrate HuGE concepts.
Participants divided into three breakout discussions
to address specific issues relevant to (1) prevalence of gene
variants and gene-disease associations, (2) gene-environment
and gene-gene interactions, and (3) evaluation of genetic tests.
These issues included defining key data elements, determining
methodologic standards for reporting individual studies and
synthesis of multiple studies, and determining techniques for
disseminating HuGE data. Conclusions and recommendations from
this workshop will be published as a set of 3 papers and will
reflect the issues discussed in each of the breakout groups.
Further
information on human genome epidemiology can be found at our
HuGENet website.
August 2002 Update:
Articles presenting guidelines
for the evaluation and integration of data from human genome
epidemiology studies have been published in the August 15th
issue of the American Journal of Epidemiology.
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