Author:

• Ilana Lowy - Lowy, L - <Ilana.LOWY@cnrs.fr>
ORCID: https://orcid.org/0000-0001-6963-0578

Abstract:

This article examines the origins of the term “genetic disease” and the consequences of the “geneticization” of human pathologies (Lipmann,1991). In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar “predisposition” (diathesis), was replaced by the view that such diseases have specific causes and are transmitted in specific ways. Mendelian genetics provided then clues to the patterns of their transmission. The genetictisation of inborn pathologies took a decisive turn with the redefinition, in 1959, of Down syndrome as a chromosomal anomaly (presence of three copies of chromosome 21), then the development of tests for diagnosis of inborn metabolic diseases and blood disorders. At that time, geneticists distinguished “hereditary” diseases that run in families (e.g., hemophilia, Tay Sachs disease) ,“genetic” conditions (Down syndrome, Turner syndrome) that are the result of new mutations during the production of egg and sperm cells (gametogenesis). In the latter case, the inborn impairment is produced by an anomaly in the genetic material of the cell, but is not hereditary, because it is not transmittedone or both parents.

Keywords:

heredity genetics chromosomes Down syndrome NIPT

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