Revisão da Literatura sobre Testes de Riscos Genéticos

José A. Zagalo-Cardoso & Luísa Rolim^*

Faculdade de Psicologia e de Ciências da Educação, Universidade de Coimbra, Portugal

RESUMO: Este artigo visa rever e reflectir sobre as questões psicológicas subjacentes aos testes genéticos, no contexto do novo paradigma médico da medicina preditiva e da emergente perspectiva da genética psicossocial.

As implicações psicológicas inerentes à prática de testes genéticos para doenças de início na idade adulta requerem particular atenção e uma abordagem multidisciplinar sistemática, incluindo a avaliação e a intervenção psicológicas, a fim de minimizar o impacto emocional do diagnóstico pré-sintomático.

É prestada particular atenção ao diagnóstico precoce pré-sintomático de três condições neurogenéticas - a polineuropatia amiloidótica familiar, a doença de Huntington e a doença de Machado-Joseph - e ao diagnóstico de susceptibilidade genética para os cancros hereditários.

Palavras chave: Adesão, Cancros hereditários, Diagnóstico de susceptibilidade genética, Diagnóstico pré-sintomático, Doenças neurogenéticas, Genética psicossocial, Impacto psicológico, Medicina preditiva, Reacções psicológicas.

Psychosocial Aspects of Predictive Medicine:

A Review of Literature about Genetic Risk Tests

ABSTRACT: This paper aims to review and reflect about psychosocial issues concerning genetic tests, in the context of the new medical paradigm of Predictive Medicine and the emerging perspective of Psychosocial Genetics.

Psychosocial implications underlying the practice of genetic tests for late onset diseases require a special attention and a systematic multidisciplinary approach, including psychosocial evaluation and intervention, in order to minimize the emotional impact of pre-symptomatic diagnosis.

We pay a very special attention to early pre-symptomatic diagnosis of three neurogenetic conditions - familial amyloid polineuropathy, Huntington disease and Machado-Joseph disease - and to the diagnosis of genetic susceptibility to hereditary cancers.

Based on a review of literature about behavioral investigation, we identify some predictors of decision-making and of adherence to genetic tests, as well as the psychological implications of the results of these tests. We emphasize emerging themes and focus on some developing investigation guidelines.

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* E-mail: lrolim@ufp.pt