Rationale for Establishing HuGENet™
Progress of the Human Genome Project has led to an explosion of genetic information. Almost daily, discoveries are announced for gene variants that affect the risks of diseases of major public health importance, ranging from adult chronic diseases such as cancer and diabetes to infectious and immunologic disorders to diseases affecting the health of infants and children. Most discoveries for gene variants are based on studies of high risk families or selected groups.
In order to translate the results of this genetic research into opportunities for treating and preventing disease and promoting health, population-based epidemiologic studies are increasingly needed to quantify the impact of gene variants on the risk of disease, death and disability, and to identify and quantify the impact of modifiable risk factors that interact with gene variants. The results of such studies will help medical and public health professionals to better target medical, behavioral and environmental interventions. Epidemiologic studies are also required in the process of clinical validation of new genetic tests, to measure the disease positive and negative predictive values of new tests, to monitor utilization of genetic tests, and to determine the safety and effectiveness of genetic tests and services in different populations.
Given the massive amount of population-based data that will be generated over the next decades, we believe a coordinated global effort is needed to disseminate human genome epidemiologic information in order to keep up with the progress of the Human Genome Project and its accompanying gene discoveries. For this to be accomplished, there must be collaboration among epidemiologists, clinical geneticists, basic scientists, medical and public health practitioners from government, professional, academic, industry and consumer organizations worldwide.
What is Human Genome Epidemiology?
The term human genome epidemiology (HuGE) denotes an evolving field of inquiry that uses systematic applications of epidemiologic methods and approaches in population-based studies of the impact of human genetic variation on health and disease (see editorial by Khoury and Dorman). Human genome epidemiology represents the intersection between genetic epidemiology and molecular epidemiology. The spectrum of topics addressed in human genome epidemiology range from basic to applied population-based research on discovered human genes:
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Assess the prevalence of gene variants in different populations. |
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Assess the magnitude of disease risk associated with gene variants in different populations (relative and absolute risks). |
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Assess the contribution of gene variants to the occurrence of the disease in different populations (attributable risks). |
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Assess the magnitude of disease risk associated with gene-gene and gene-environment interaction in different populations. |
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Assess the validity of genetic tests in different populations (disease positive and negative predictive values). |
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Evaluate the magnitude and determinants of the utilization of genetic tests and services in different populations. |
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Evaluate the impact of genetic tests and services on morbidity, disability, mortality and cost in different populations. |
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