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.

There are three types of genetic disorders:

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed.
  • Complex disorders, where there are mutations in two or more genes.

Also genetic epidemiology can be used to assess risk factors for germ and somatic cell mutations. A notable example is the numerous epidemiologic studies of risk factors for trisomy 21 (Down syndrome), the most common form of aneuploidy present at birth ( Khoury et al., 1993).

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.

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