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01-02-2016 | Original Research

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

Authors: Ângela Leite, Maria Alzira P. Dinis, Jorge Sequeiros, Constança Paúl

Published in: Journal of Genetic Counseling | Issue 1/2016

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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Title: Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations
Authors: Ângela Leite
Maria Alzira P. Dinis
Jorge Sequeiros
Constança Paúl
Publication date: 01-02-2016
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 1/2016
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-015-9846-4

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