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Como as doen?as se tornaram “genéticas”

机译：疾病如何成为“遗传”

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This article examines the origins of the term “genetic disease.” In the late 19 and early 20 th century, an earlier idea that diseases that occur in families reflect a vague familiar “predisposition” was replaced by the view that such diseases have specific causes, while 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, then the development of tests for the diagnosis of other hereditary pathologies. At that time, geneticists distinguished “hereditary” diseases that run in families, from “genetic” conditions that are the result of new mutations during the production of egg and sperm cells. 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 transmitted from one or both parents. In the late 20 th and early 21 st century, new genomic technologies blurred the distinction between hereditary and genetic impairments, extended the concept of genetic disease, and modified the experience of people living with such a disease.
机译：本文研究了“遗传疾病”一词的起源。在19世纪末和20世纪初，较早的想法是，家庭中发生的疾病反映了模糊熟悉的“倾向”被认为是这种疾病所具有特定的原因，而孟德尔遗传学提供的是其传播模式的线索。天生病理的遗传学作用在1959年唐氏综合征作为染色体异常的重新定义时，对重新定义进行了决定性的转弯，然后是诊断其他遗传病理学的试验的开发。那时，遗传学家在家庭中享有“遗传性”疾病，从“遗传”条件是在生产蛋和精子细胞期间的新突变的结果。在后一种情况下，天生损伤是由细胞的遗传物质中的异常产生的，但不是遗传，因为它不是从一个或两个父母传播。在20世纪末和21世纪初期，新的基因组技术模糊了遗传和遗传障碍之间的区别，延长了遗传疾病的概念，并修改了这种疾病的人们的经验。

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