2017
DOI: 10.16888/interd.2017.34.1.8
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Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

Abstract: resUMenEl papel del psicólogo clínico en el contexto del consejo genético incluye brindar apoyo a los sujetos en riesgo en el proceso de toma de decisiones, independientemente de la decisión adoptada por el sujeto (conociendo o no el resultado de las pruebas genéticas).El estudio que se informa 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… Show more

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Cited by 3 publications
(3 citation statements)
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References 28 publications
(35 reference statements)
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“…In view of the impacts experienced and anticipated, PST was the strategy favored by the young adults in this study to deal with the emotional and relational challenges associated with their genetic risk status for hATTR-PN, which is in line with what was reported by Leite, Dinis et al (2017b) and Matos and Carvalho (2015). More speci cally, while the completion of the PST can be a resource in the very exploration of the typical identity of young adults (which includes planning crucial choices about their love/reproductive and professional lives; Leite (2017), the psychosocial experience of participants in this study is also characterized by the use of other strategies, such as those focused on emotion, meaning and seeking social support (viz., in the three vital interaction systems of young adults: parents, friends and romantic partners; Willoughby et al 2022).…”
Section: Discussionsupporting
confidence: 83%
“…In view of the impacts experienced and anticipated, PST was the strategy favored by the young adults in this study to deal with the emotional and relational challenges associated with their genetic risk status for hATTR-PN, which is in line with what was reported by Leite, Dinis et al (2017b) and Matos and Carvalho (2015). More speci cally, while the completion of the PST can be a resource in the very exploration of the typical identity of young adults (which includes planning crucial choices about their love/reproductive and professional lives; Leite (2017), the psychosocial experience of participants in this study is also characterized by the use of other strategies, such as those focused on emotion, meaning and seeking social support (viz., in the three vital interaction systems of young adults: parents, friends and romantic partners; Willoughby et al 2022).…”
Section: Discussionsupporting
confidence: 83%
“… Discuss motivations for proceeding with testing, including decision-making process, and clarify expectations where required 20 [ 37 ] [ 27 , 30 , 31 , 33 , 37 , 41 , 44 - 46 , 49 , 50 , 52 , 54 , 55 , 60 , 63 , 70 , 89 , 95 , 96 ] Assess psychosocial readiness to undergo testing and ability to cope with testing process and/or either possible result, including adaptation mechanisms, psychological history, current substance abuse/stressors/changes in mood/cognitive functioning 20 [ 93 ] [ 27 , 30 , 31 , 33 , 35 , 38 , 40 , 41 , 43 - 46 , 50 , 52 , 54 , 55 , 63 , 93 , 104 , 105 ] Assess and address family dynamics and communication (e.g. whether the client plans to communicate any type of result with relatives, suggesting further family discussion before proceeding with testing and/or supporting the client in familial communication) 16 [ 54 , 62 , …”
Section: Resultsmentioning
confidence: 99%
“…DNA banking, deferring testing, undergoing testing but not receiving the results) 10 [ 27 , 30 , 41 , 43 , 44 , 46 , 49 , 52 , 59 , 71 ] Assess access to social support within and outside the family 10 [ 35 , 38 - 40 , 44 , 47 , 52 , 55 , 63 , 89 ] [ 39 ] Encourage the client to consider possible responses and effects of testing on other individuals (e.g. support person, partners, family members), including the possibility of various results scenarios between different family members 9 [ 93 ] [ 26 , 28 , 48 , 52 , 55 , 63 , 89 , 93 ] [ 51 ] Review the timing of testing, perceived advantages and disadvantages of proceeding (or not) 8 [ 26 , 42 , 44 , 45 , 52 , 55 , 89 , 96 ] Review common emotional responses and possib...…”
Section: Resultsmentioning
confidence: 99%