O presente artigo tem o objetivo de examinar as origens do termo “doença genética. No final do século XIX e início do XX, a vaga ideia que a doença manifesta entre familiares refletia uma “predisposição” familiar, foi substituída pela visão que essas doenças possuem causas específicas, enquanto a genética mendeliana forneceu as pistas para os padrões de transmissão da doença. A genética das patologias congênitas deu uma guinada decisiva, em 1959, com a redefinição da Síndrome de Down como uma anomalia cromossômica e, depois, com o desenvolvimento de testes para o diagnóstico de outras patologias hereditárias. Naquela época, os geneticistas distinguiam doenças “hereditárias” como aquelas que acometiam os elementos de uma família, de condições “genéticas” que são o resultado de novas mutações ocorridas durante a produção dos óvulos e espermatozóides. Neste último caso, a deficiência inata é causada por uma anomalia do material genético da célula, porque não é transmitida por qualquer um ou ambos os pais. No final do século XX e início do XXI, as novas tecnologias genômicas obscureceram a distinção entre deficiências hereditária e a genética, estenderam o conceito da doença genética, e modificaram a experiência das pessoas que vivem com esse tipo de doença.
Palavras-chave:
hereditariedade, genética, cromossomos, síndrome de Down, NIPT
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.
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.
Lowy, L. How diseases became “genetic”.. Cien Saude Colet [periódico na internet] (2019/abr). [Citado em 24/12/2024].
Está disponível em: http://cienciaesaudecoletiva.com.br/artigos/how-diseases-became-genetic/17162?id=17162&id=17162
