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Genetic epidemiology


Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups.

The use of the term Genetic epidemiology emerged in the mid 1980s as a new scientific field.

In formal language, genetic epidemiology was defined by Newton Morton, one of the pioneers of the field, as "a science which deals with the etiology, distribution, and control of disease in groups of relatives and with inherited causes of disease in populations". It is closely allied to both molecular epidemiology and statistical genetics, but these overlapping fields each have distinct emphases, societies and journals.

The Genetic Epidemiology Department of Science (GEMS) defines the field as "the scientific discipline that deals with the analysis of the familial distribution of traits, with a view to understanding any possible genetic basis", that "seeks to understand both the genetic and environmental factors and how they interact to produce various diseases and traits in humans". The BMJ adopts a similar definition, "Genetic epidemiology is the study of the aetiology, distribution, and control of disease in groups of relatives and of inherited causes of disease in populations."

In an effort to explain disease occurrence, Hippocrates suggested in his essay “On Airs, Waters, and Places” that factors such as behavior and environment may play a role in disease.

In 1662 epidemiology was further developed by the work of John Graunt, who tried to quantify mortality in London using a statistical approach, noting the various factors he thought played a role in high mortality rates.

The grandfather of epidemiology was John Snow, considered the “father of field epidemiology” was the first to use statistics to discover and target the cause of cholera outbreaks in London. He investigated the cases of cholera and plotted them onto a map identifying the most likely cause of cholera, which was shown to be contaminated water wells.


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