title: Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases.
abstract: This study addresses the relation between illness representations, knowledge and motivation to perform the presymptomatic testing (PST) of subjects at-risk for Familial Amyloydotic Polyneuropathy (FAP), Huntington's disease (HD) and Machado-Joseph disease (MJD), compared with subjects at-risk for Hereditary Hemochromatosis (HH). The sample comprised a clinical group of 213 subjects at genetic risk for FAP, HD and MJD, and a comparison group of 31 subjects at genetic risk for HH, that answered three open-ended questions relating illness representations, knowledge about the disease, and motivation to perform PST. People at-risk for FAP, HD and MJD use more metaphors, make more references to the family, are more concerned with the future and feel more out of curiosity and to learn, than for HH. These subjects at-risk correspond to the profile of somatic individual or personhood, wherein the unsubjectivation of the disease can function as a coping mechanism.
authors.affiliation: a Faculty of Psychology (ULP) , Lusophone University of Oporto , Porto , Portugal.|b Center for Predictive and Preventive Genetics (CGPP) , Institute for Molecular and Cell Biology (IBMC) , Porto , Portugal.
authors.forename: Ângela
authors.initials: Â
authors.lastname: Leite
authors.affiliation: c University of Fernando Pessoa , UFP Energy, Environment and Health Research Unit (FP-ENAS), Energy, Environment and Environmental and Public Health Research Laboratories (3ERL) , Praça 9 de Abril 349, 4249-004 Porto , Portugal.
authors.forename: Maria Alzira P
authors.initials: MA
authors.lastname: Dinis
authors.affiliation: b Center for Predictive and Preventive Genetics (CGPP) , Institute for Molecular and Cell Biology (IBMC) , Porto , Portugal.|d Instituto de Ciências Biomédicas Salazar (ICBAS) , Porto , Portugal.|e I3S-Instituto de Investigação e Inovação em Saúde, University Porto , Oporto , Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.affiliation: d Instituto de Ciências Biomédicas Salazar (ICBAS) , Porto , Portugal.
authors.forename: Constança
authors.initials: C
authors.lastname: Paúl
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D007407:Interviews as Topic; D000067562:Late Onset Disorders / Q000235:genetics*; D017827:Machado-Joseph Disease / Q000235:genetics; D008297:Male; D009042:Motivation; D012307:Risk Factors; D055815:Young Adult
keywords: Illness representations; genetic disease; knowledge; motivation to perform the PST; subjects at-risk