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Subjects At‐Risk for Genetic Diseases in Portugal: Illness Representations
Author(s) -
Leite Ângela,
Dinis Maria Alzira P.,
Sequeiros Jorge,
Paúl Constança
Publication year - 2016
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-015-9846-4
Subject(s) - genetic counseling , disease , medicine , genetic testing , genetic discrimination , psychology , psychiatry , genetics , biology
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.