Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

Leite, Ángela; Denis, Maria Alzira P.; Sequeiros, Jorge; Paúl, Constança

doi:10.16888/interd.2017.34.1.8

Cited by 3 publications

(3 citation statements)

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%

“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy

Pereira,

Costa,

Santos

et al. 2024

Preprint

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This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN), specifying developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for presymptomatic testing (PST) at a single genetics outpatient center in Portugal, and the data were analyzed thematically. The main findings suggest that the psychosocial experience of the young adults interviewed is marked by: (a) the development of psychological representations (viz., beliefs, mental representations, and social perceptions) about hATTR-PN, (b) experienced and anticipated psychosocial impacts (viz., suffering, anxiety, and relief) related to the disease, (c) the use of strategies (viz., performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies) to deal with these impacts over time, and (d) the perceived and expected support for the participants' needs provided by social contexts (viz., family and genetic counseling). In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can added psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of the young adults belonging to families with the disease. In addition, future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population.

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Section: Discussionsupporting

confidence: 83%

“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy

Pereira,

Costa,

Santos

et al. 2024

Preprint

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“… 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%

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review

et al. 2021

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Objective To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling, education, and support. Methods Four databases were systematically searched for articles published from 2009 to 2020. Peer-reviewed research articles in English that reported research and clinical genetic counseling and testing practices for LONDs were included. A narrative synthesis was conducted to describe different practices and map genetic counseling activities to the goals. Risk of bias was assessed using the Qualsyst tool. The protocol was registered with PROSPERO (CRD42019121421). Results Sixty-one studies from 68 papers were included. Most papers focused on predictive testing (58/68) and Huntington’s disease (41/68). There was variation between papers in study design, study population, outcomes, interventions, and settings. Although there were commonalities, novel and inconsistent genetic counseling practices were identified. Eighteen papers addressed all four goals of genetic counseling. Conclusion Contemporary genetic counseling and testing practices for LONDs are varied and informed by regional differences and the presence of different health providers. A flexible, multidisciplinary, client- and family-centered care continues to emerge. As genetic testing becomes a routine part of care for patients (and their relatives), health providers must balance their limited time and resources with ensuring clients are safely and effectively counseled, and all four genetic counseling goals are addressed. Areas of further research include diagnostic and reproductive genetic counseling/testing practices, evaluations of novel approaches to care, and the role and use of different health providers in practice. Supplementary Information The online version contains supplementary material available at 10.1007/s00415-021-10461-5.

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“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy

Pereira,

Costa,

Santos

et al. 2024

J Community Genet

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This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for pre-symptomatic testing (PST) at a single genetics outpatient center in Portugal. The data were analyzed qualitatively. The main findings suggest that four themes mark the psychosocial experience of the young adults interviewed. The first refers to the development of psychological representations, namely beliefs, mental representations, and social perceptions about hATTR-PN. The second regards the experienced and anticipated psychosocial impacts, namely, suffering, anxiety, and relief related to the disease. The third is related to using strategies such as performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies to deal with these impacts over time. Finally, the fourth aspect concerns the perceived and expected support for the participants’ needs provided by social contexts, that is, family and genetic counseling. In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population.

show abstract

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

Cited by 3 publications

References 28 publications

“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy

“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review

“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy

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