Fichamento 6
Autor: Medeiros Alencar | Publicado: 2011-06-03T13:31:00-07:00

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Importância da Genética no serviço público: relato da extinção de um setor de Genética no município de São Paulo, Brasil.ALBANO, LMJ
“O grande avanço da genética, nas últimas décadas, tem permitido a melhor compreensão&nbsp; de certas&nbsp; doenças&nbsp; e&nbsp; o conhecimento de muitas outras. Vários esforços, atendendo aos anseios de um número cada vez maior de especialidades, têm sido realizados para se detectar,&nbsp; o&nbsp; quanto&nbsp; antes,&nbsp; as malformações congênitas, os desvios metabólicos, as doenças&nbsp; heredodegenerativas,&nbsp; as&nbsp; displasias&nbsp; esqueléticas&nbsp; e&nbsp; todos os distúrbios&nbsp; genéticos&nbsp; passíveis&nbsp; de&nbsp; um&nbsp; diagnóstico pré ou pós-natal.&nbsp; Atualmente, verifica-se um grande e profícuo intercâmbio entre as várias especialidades médicas e outras áreas da saúde,&nbsp; resultando&nbsp; em&nbsp; um&nbsp; saldo&nbsp; final extremamente positivo. A citogenética tem&nbsp; prestado&nbsp; grande&nbsp; subsídio,&nbsp; neste sentido, não só para a disciplina de genética, mas também para outras áreas.”“É possível afirmar que, após o emprego da biologia molecular, nenhuma área da biomedicina permaneceu intocada. Entretanto, o rápido desenvolvimento&nbsp; da&nbsp; biologia&nbsp; molecular&nbsp; não foi completamente absorvido pela sociedade. Assim, atualmente, há uma grande preocupação com os aspectos médico-legais e éticos decorrentes do impacto provocado pelos avanços da biologia&nbsp; molecular,&nbsp; envolvendo&nbsp; até mesmo&nbsp; as&nbsp; companhias&nbsp; de&nbsp; seguros.”“Assim, &nbsp;a&nbsp; existência&nbsp; de&nbsp; poucos&nbsp; centros especializados de genética no país acarreta&nbsp; uma&nbsp; sobrecarga&nbsp; no&nbsp; serviço público&nbsp; e,&nbsp; até mesmo,&nbsp; no&nbsp; serviço&nbsp; privado. Este&nbsp; fato dificulta o encaminhamento de pacientes portadores de uma determinada&nbsp; anormalidade&nbsp; genética para&nbsp; atendimento&nbsp; especializado.&nbsp; A rigor,&nbsp; todas&nbsp; as&nbsp; doenças mencionadas aqui, e muitas outras, não citadas, deveriam passar por uma avaliação genética;&nbsp; só &nbsp;o geneticista dispõe de&nbsp; subsídios&nbsp; para&nbsp; esclarecer&nbsp; o&nbsp; risco&nbsp; para&nbsp; os indivíduos e para os membros de sua família,&nbsp; assim como para propor uma terapia&nbsp; antenatal,&nbsp; neonatal&nbsp; ou&nbsp; futura, de forma a minimizar seqüelas, propiciar melhor evolução do paciente e reduzir&nbsp; sobremaneira&nbsp; o&nbsp; gasto&nbsp; público. Neste&nbsp; sentido,&nbsp; a&nbsp; disponibilidade&nbsp; de um&nbsp; serviço&nbsp; de&nbsp; genética&nbsp; em&nbsp; hospitais deveria&nbsp; ser&nbsp; uma&nbsp; questão&nbsp; de&nbsp; interesse público.”“Foram codificados, no período entre novembro de 1992 e fevereiro de 1996, 571 casos, dentre todos os avaliados no setor de genética do HIMJ, sendo solicitados 358 cariótipos. Oito não puderam ser concluídos por más condições das aberrações cromossômicas, outras enfermidades genéticas foram estudadas naquele período. As freqüências de algumas delas (ressalvando-se que não conseguimos recuperar todos os dados a contento) podem ser observadas na tabela 2.”“A&nbsp; presença&nbsp; de um&nbsp; serviço de genética&nbsp; em&nbsp; centros&nbsp; médico-hospitalares, além&nbsp; de&nbsp; minimizar&nbsp; as&nbsp; manifestações clínicas&nbsp; dos&nbsp; portadores&nbsp; de&nbsp; distúrbios genéticos,&nbsp; de melhorar&nbsp; sua&nbsp; qualidade de vida, bem como a de seus familiares, e de disponibilizar informações sobre o risco de recorrência, também evita que ocorram&nbsp; erros&nbsp; de&nbsp; encaminhamento&nbsp; e desperdícios. Um exemplo, ocorrido no HIMJ,&nbsp; foi&nbsp; a&nbsp; solicitação,&nbsp; por&nbsp; parte&nbsp; de outro hospital, para que realizássemos um cariótipo por suspeita de síndrome de Turner quando, na verdade,&nbsp; a avaliação&nbsp; genética&nbsp; revelou&nbsp; que&nbsp; o&nbsp; caso&nbsp; se tratava de torcicolo congênito.”