Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases
| Autor(a) principal: | |
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| Data de Publicação: | 2017 |
| Outros Autores: | , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10284/7905 |
Resumo: | http://sherpa.ac.uk/romeo/issn/1668-7027/ |
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Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseasesMotivation to perform the PSTGenetic diseaseSubjects at-riskFamilial Amyloid Polyneuropathy (FAP) TTR V30MHuntington's disease (HD)Machado-Joseph disease (MJD)http://sherpa.ac.uk/romeo/issn/1668-7027/The role of the clinical psychologist in the context of genetic counseling includes support for the process of decision-making for subjects at-risk, regardless of the decision that was made. For this, it is important to know the motivations behind these decisions. What may be considered advantageous and justifiable reasons to perform the PST for genetic diseases from the medical and public point of view, i.e., planning for the future, helping in the choice of a profession, family planning, improving quality of life and contributing to health, may not be recognized as such by the individual seeking the PST. This study addresses the motivation to perform the presymptomatic testing (PST) of subjects at-risk for 3 diseases, Familial Amyloid Polyneuropathy (FAP), Huntington's disease (HD) and Machado-Joseph disease (MJD), compared with the motivation to perform the PST for Hemochromatosis (HH). FAP, HD and MJD are three genetic (monogenic) autosomal dominant late-onset diseases (LONDs) with no cure. FAP is a progressive sensorimotor and autonomic neuropathy of adulthood. HD is characterized by a triad of clinical symptoms of chorea (motor, cognitive and psychiatric symptoms), emotional distress and cognitive decline. MJD is characterized by slowly progressive clumsiness in the arms and legs, a staggering lurching gait, sometimes mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, and may be accompanied by double vision or bulging eyes, and lower limb spasticity. HH is a disease in which too much iron accumulates in parenchymal organs, leading to iron overload and subsequent organ toxicity and failure. The study participants consisted in 213 subjects at genetic risk for FAP, HD and MJD and 31 subjects at genetic risk for HH, that were assessed through an interview to obtain sociodemographic data and the answer to one question about motivation to perform PST: “Which were the reasons that led you to perform the predictive test?" This study was carried out in Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto, Portugal. This research used a mixed-method, since qualitative and quantitative techniques of data analysis were used. Before deciding to seek genetic counseling and to know their genetic status, subjects at-risk have naturally considered their motives and it was probably the pro-counseling reasons the ones dictating the motivation to perform the PST. This may suggest that in fact there is a prior self-selection to the test, i.e. only those considering to have emotional skills to go through the process, performing the test. Seven major categories were obtained. The most significant ones for FAP, HD and MJD were reasons related to the future, reasons related to others and reasons related to curiosity and to the need to know. For HH, the most important ones were reasons related to others and reasons related to the characteristics of the disease. The motivation of subjects at-risk to perform the PST for FAP, HD and MJD is external and unrelated to the disease, while the motivation of subjects at-risk to perform the PST for HH is related to the disease. Reasons related to others are a common motivation: as subjects at-risk for FAP, HD and MJD, subjects at-risk for HH also chose reasons related to others as one of the most important motivations to carry out the PST. These subjects also care about the fact that they can transmit the disease to their children and care about other family members which are already ill. The category reasons related to others includes subcategories that identify the person and the situation that led to the decision to perform a PST. Subjects at-risk are also concerned about the fact that they have to decide whether or not to have children and its economic implications.El papel del psicólogo clínico en el contexto del consejo genético incluye el apoyo al proceso de toma de decisiones para los sujetos en riesgo, independientemente de la cola se tomó la decisión. Este estudio aborda la motivación para realizar las pruebas pre-sintomáticas (PPS) de sujetos en situación de riesgo para tres enfermedades, polineuropatía amiloide familiar (PAF), la enfermedad de Huntington (EH) y la enfermedad de Machado-Joseph (EMJ) y comparar con la motivación para realizar la PPS para hemocromatosis (HH). La muestra consistió en 213 sujetos portugués que tenían riesgo genético para contraer las tres enfermedades y 31 sujetos en situación de riesgo genético para contraer la HH. Ellos fueron evaluados con una entrevista para obtener datos socio-demográficos y debían responder a una pregunta sobre la motivación para llevar a cabo las PPS. Se obtuvieron siete categorías principales. Las más significativas para PAF, EH y EMJ fueron razones relacionadas con el futuro, razones relacionadas con los demás y razones relacionadas con la curiosidad y la necesidad de conocer. Para HH, las más importantes fueron razones relacionadas con los demás y razones relacionadas con las características de la enfermedad. La motivación para realizar el PST de la PAF, EH y EMJ es externa y sin relación con la enfermedad, mientras que la motivación de los sujetos en situación de riesgo para la HH está relacionada con la enfermedad. Las razones relacionadas con los demás es una motivación común. Estos sujetos también se preocupan que pueden transmitir la enfermedad a sus hijos.Centro Interamericano de Investigaciones Psicologicas y Ciencias AfinesRepositório Institucional da Universidade Fernando PessoaLeite, ÁngelaDinis, Maria Alzira PimentaSequeiros, JorgePaúl, Constança2019-09-16T08:44:36Z2017-01-01T00:00:00Z2017-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10284/7905engAPA: Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2017). Motivation to perform presymptomatic testing in Portuguese subjects at-risk for late-onset genetic diseases. Interdisciplinaria, 34(1), 125-140. doi:10.16888/interd.2017.34.1.81668-7027)10.16888/interd.2017.34.1.8info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-06T02:07:17Zoai:bdigital.ufp.pt:10284/7905Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:44:49.069076Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases |
| title |
Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases |
| spellingShingle |
Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases Leite, Ángela Motivation to perform the PST Genetic disease Subjects at-risk Familial Amyloid Polyneuropathy (FAP) TTR V30M Huntington's disease (HD) Machado-Joseph disease (MJD) |
| title_short |
Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases |
| title_full |
Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases |
| title_fullStr |
Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases |
| title_full_unstemmed |
Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases |
| title_sort |
Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases |
| author |
Leite, Ángela |
| author_facet |
Leite, Ángela Dinis, Maria Alzira Pimenta Sequeiros, Jorge Paúl, Constança |
| author_role |
author |
| author2 |
Dinis, Maria Alzira Pimenta Sequeiros, Jorge Paúl, Constança |
| author2_role |
author author author |
| dc.contributor.none.fl_str_mv |
Repositório Institucional da Universidade Fernando Pessoa |
| dc.contributor.author.fl_str_mv |
Leite, Ángela Dinis, Maria Alzira Pimenta Sequeiros, Jorge Paúl, Constança |
| dc.subject.por.fl_str_mv |
Motivation to perform the PST Genetic disease Subjects at-risk Familial Amyloid Polyneuropathy (FAP) TTR V30M Huntington's disease (HD) Machado-Joseph disease (MJD) |
| topic |
Motivation to perform the PST Genetic disease Subjects at-risk Familial Amyloid Polyneuropathy (FAP) TTR V30M Huntington's disease (HD) Machado-Joseph disease (MJD) |
| description |
http://sherpa.ac.uk/romeo/issn/1668-7027/ |
| publishDate |
2017 |
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2017-01-01T00:00:00Z 2017-01-01T00:00:00Z 2019-09-16T08:44:36Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10284/7905 |
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http://hdl.handle.net/10284/7905 |
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eng |
| language |
eng |
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APA: Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2017). Motivation to perform presymptomatic testing in Portuguese subjects at-risk for late-onset genetic diseases. Interdisciplinaria, 34(1), 125-140. doi:10.16888/interd.2017.34.1.8 1668-7027) 10.16888/interd.2017.34.1.8 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Centro Interamericano de Investigaciones Psicologicas y Ciencias Afines |
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Centro Interamericano de Investigaciones Psicologicas y Ciencias Afines |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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