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Related to environmental sciences (particularly environmental health or biomedicine) and to molecular biology and genetics, ecogenetics is an emergent discipline in the interphase of these sciences. Ecogenetics initially attempted to study and understand how the genetic and environmental factors could together influence the organism's response to carcinogenic agents and other imposed stresses.

However, ecogenetics represents a growing science with many practical purposes, particularly in the field of prevention of environmentally related genetic diseases. Today, we could consider that understanding the play between heredity and environment and relating it to disease causation is the task of ecogenetics. The field of ecogenetics has emerged from the older area of pharmacogenetics and investigates how genetic polymorphisms may represent risk factors for a number of diseases associated with exposure to toxic chemicals and other environmental substances and factors.

In addition, the extrapolation that genetic variations would be expected to affect responses to any kind of environmental and xenobiotic agent, not just drugs, lead to “ecogenetics,” by analyzing the critical genetic determinants that dictate susceptibility to environmentally influenced adverse health effects. Currently, it is postulated that many diseases are the result of environmental factors acting on genetically susceptible individuals. Many genetic conditions, including those involving hematological and liver diseases, serum proteins alterations, skin disorders, DNA repair diseases, and others have now been included in the study of diseases that are subject of ecogenetics.

This discipline is growing faster in the area of cancer ecogenetics, particularly with the objective of preventing or avoiding neoplastic diseases. This would be reached through the use of genetic markers. Although ecogenetics seeks to examine genetically mediated differences in susceptibility to environmental agents, researchers often examine the relationship between genetic markers and disease without regard to environmental determinants. By using epidemiologic definitions of genotype–environment interaction, it can be shown that the relative risk of disease for the genetic marker is a function of the frequency of exposure to the environmental agent, the strength of interaction between the genotype and the agent, and the specificity of the environmental effect vis-à-vis the genotype.

Currently, applications of ecogenetics to various types of diseases and some of its associated factors can be found in the biomedical literature, as the eco-genetics of some parasitic pathogens and its vectors (e.g., leishmaniasis, Chagas's disease, etc.).

Today, the field of the ecogenetics is, by far, more complex than some years ago, given the vast number of ethical, legal, and social issues related to the discipline. This is particularly important with studies investigating and evaluating genetic polymorphisms in human populations and should consider the impact of this emergent science on risk assessment, regulatory policies, and medicine and public health.

Alfonso J.Rodriguez-Morales, M.D., M.Sc., Universidad de Los Andes, VenezuelaCarlosFranco-Paredes, M.D., M.P.H., Emory University

Bibliography

Lucio G.Costa and David L.Eaton, Gene-Environment Interactions: Fundamentals of Ecogenetics (Wiley, 2006)
Muin J.Khoury, “An Epidemiologic Approach to Ecogenetics,”American Journal of Human Genetics (v.42/1, 1988)
François Noireau, “Ecogenetics of Triatoma sordida and Triatoma guasayana (Hemiptera: Reduviidae) in the Bolivian Chaco,”Memórias do Instituto Oswaldo Cruz (v.94/4, 1999).
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