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Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

This study investigates illness representations of subjects at-risk for 3 autosomal dominant late-onset disorders: Familial Amyloid Polyneuropathy (FAP) TTR V30M, Huntington’s disease (HD) and Machado-Joseph disease (MJD), comparing them with the illness representations of subjects at-risk for Hemochromatosis (HH). The present study included a clinical group that consisted of 213 subjects at genetic risk (FAP, HD and MJD), comprising 174 subjects at-risk for FAP, 34 subjects at-risk for HD and only 5 subjects at-risk for MJD; and the control group consisting of 31 subjects at genetic risk for HH. All subjects at-risk were undergoing the process of genetic counseling to learn their genetic status (carrier or non-carrier). Subjects were assessed through a semi-structured single interview, in order to obtain sociodemographic data and the answer to an open-ended question relating to the illness representation issue: “What does this illness mean to you?/ What is this disease to you?” It was in the subjects’ metaphors that subjects best expressed what they felt regarding the disease and the situation of being at-risk for this disease. Family is their mirror and their source of learning and, therefore, it is inevitable that family is related to the meaning of the disease itself.

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Conflict of Interest

Authors Ângela Leite, Maria Alzira P. Dinis, Jorge Sequeiros and Constança Paúl declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all the patients included in the study.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

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Authors and Affiliations

  1. Faculty of Psychology (ULP), Lusophone University of Oporto, Rua Augusto Rosa n° 24, 4000-098, Porto, Portugal

    Ângela Leite

  2. Faculty of Science and Technology (FCT-UFP), University of Fernando Pessoa, Porto, Portugal

    Maria Alzira P. Dinis

  3. Instituto de Ciências Biomédicas Salazar (ICBAS), Porto, Portugal

    Jorge Sequeiros & Constança Paúl

  4. Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto, Portugal

    Ângela Leite & Jorge Sequeiros

  5. I3S—Instituto de Investigação e Inovação em Saúde, University Porto, Oporto, Portugal

    Jorge Sequeiros

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  1. Ângela Leite
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  2. Maria Alzira P. Dinis
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  4. Constança Paúl
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Correspondence to Ângela Leite.

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Leite, Â., Dinis, M.A.P., Sequeiros, J. et al. Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. J Genet Counsel 25, 79–89 (2016). https://doi.org/10.1007/s10897-015-9846-4

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  • DOI: https://doi.org/10.1007/s10897-015-9846-4

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