Aspectos atuais da realização de testes moleculares para a doença de Huntington em centros de pesquisa e laboratórios brasileiros
Authors: Santos Gabriel De Lima , Schnadelbach Alessandra Selbach , Moreira Lília Maria De Azevedo 
Published: September 2017

<!--[if gte mso 9]><xml> <o:OfficeDocumentSettings> <o:AllowPNG /> <o:TargetScreenSize>800x600</o:TargetScreenSize> </o:OfficeDocumentSettings> </xml><![endif]--><p><strong>Introdução</strong>: a doença de Huntington (DH) é uma enfermidade neurodegenerativa e de desenvolvimento tardio, autossômica dominante. Declínio cognitivo, coréia, disfunção motora severa e óbito no estágio final, são sintomas que caracterizam a doença. Atualmente, testes moleculares para diagnóstico pré-sintomático estão acessíveis à população em risco, porém implicações éticas permeiam esse tipo de exames. <strong>Objetivo</strong>: avaliar aspectos atuais da realização de testes genéticos para DH no Brasil por meio de estudo analítico de amostra de laboratórios. <strong>Metodologia</strong>: foram utilizados questionários semiestruturados enviados a 19 laboratórios que ofereciam testes diagnósticos e preditivos para a doença em suas paginas virtuais, por meio de correio eletrônico, a fim de obter informações sobre a metodologia empregada para os testes, infraestrutura, composição da equipe técnica, sexo dos indivíduos atendidos, percentagem de resultados positivos e cuidados oferecidos ao indivíduo/família antes e após a realização dos exames. <strong>Resultados</strong>: os laboratórios que aceitaram participar do estudo e responderam ao questionário informaram dispor de uma infraestrutura excelente, em termos de pessoal e equipamentos, atendendo aos requisitos básicos para a realização dos exames utilizando principalmente a técnica da Reação em Cadeia da Polimerase (PCR), na metodologia molecular. O percentual de resultado positivo para DH nos laboratórios pesquisados variou de 30 a 90%, sendo que este último percentual foi apresentado pelo laboratório vinculado a Instituto Público de Ensino Superior que era o único a oferecer acompanhamento psicológico e/ou psiquiátrico antes e após os exames. <strong>Conclusão: </strong>para promover a ampliação do acesso a esse tipo de teste à população acometida pela doença de Huntington, deve ser estimulada a criação de laboratórios com tecnologia de ponta e a formação de recursos humanos especializados.</p><!--[if gte mso 9]><xml> <w:WordDocument> <w:View>Normal</w:View> <w:Zoom>0</w:Zoom> <w:TrackMoves /> <w:TrackFormatting /> <w:HyphenationZone>21</w:HyphenationZone> <w:PunctuationKerning /> <w:ValidateAgainstSchemas /> <w:SaveIfXMLInvalid>false</w:SaveIfXMLInvalid> <w:IgnoreMixedContent>false</w:IgnoreMixedContent> <w:AlwaysShowPlaceholderText>false</w:AlwaysShowPlaceholderText> <w:DoNotPromoteQF /> 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