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Journal of Genetic CounselingVolume 25, Issue 1, 1 February 2016, Pages 79-89

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

  • aLusophone University of Oporto, Rua Augusto Rosa n° 24, Porto, 4000-098, Portugal
  • bUniversity of Fernando Pessoa, Porto, Portugal
  • cInstituto de Ciências Biomédicas Salazar (ICBAS), Porto, Portugal
  • dCenter for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto, Portugal
  • eI3S—Instituto de Investigação e Inovação em Saúde, University Porto, Oporto, Portugal

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. © 2015, National Society of Genetic Counselors, Inc.

Author keywords

Familial Amyloid Polyneuropathy (FAP) TTR V30MGenetic diseaseGenetic riskHuntington’s diseaseIllness representationsMachado-Joseph diseaseSubjects at-risk

Indexed keywords

EMTREE drug terms:prealbumin
EMTREE medical terms:Amyloid Neuropathies, Familialfemalegenetic counselinggenetic screeninghumanpedigreePortugalrisk factorstatistics and numerical data
MeSH:Amyloid Neuropathies, FamilialFemaleGenetic CounselingGenetic TestingHumansPedigreePortugalPrealbuminRisk Factors

Chemicals and CAS Registry Numbers:

Prealbumin

  • ISSN: 10597700
  • CODEN: JGCOE
  • Source Type: Journal
  • Original language: English
  • DOI: 10.1007/s10897-015-9846-4
  • PubMed ID: 25986962
  • Document Type: Article
  • Publisher: Springer New York LLC

  Leite, Â.; Lusophone University of Oporto, Rua Augusto Rosa n° 24, Porto, Portugal;
© Copyright 2016 Elsevier B.V., All rights reserved.

Cited by 5 documents

Paneque, M. , Félix, J. , Mendes, Á.
Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal | Vinte anos de um protocolo de teste pré-sintomático para doenças neurológicas de início tardio em Portugal
(2019) Acta Medica Portuguesa
Mendes, Á. , Paneque, M. , Clarke, A.
Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease
(2019) European Journal of Human Genetics
Lêdo, S. , Ramires, A. , Leite, Â.
Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases
(2018) European Journal of Medical Genetics
View details of all 5 citations
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