Expert Panel Convened To Develop Guidelines For Evaluating
Human Genome Epidemiology Studies
Office of Public Health Genomics, CDC
January 29-30, 2001
The CDC's Office of Public Health Genomics, 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™ Web site.
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.