Psychological reactions to predictive genetic testing for Huntington’s disease: A qualitative study

Tillerås, Kristine Hansen; Kjoelaas, Siri; Dramstad, Elisabeth; Feragen, Kristin Billaud; Lippe, Charlotte von der

doi:10.1002/jgc4.1245

Cited by 20 publications

(14 citation statements)

References 42 publications

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“…Once generated, all themes were mapped to the PPCT model of Bronfenbrenner’s bioecological theory (Bronfenbrenner, 2001; Bronfenbrenner & Evans, 2000; Rosa & Tudge, 2013). Versions of Bronfenbrenner’s theory have been widely used to study various social phenomena (Rosa & Tudge, 2013), including genetic counseling experiences (Hoskins & Werner‐Lin, 2013; Tillerås et al, 2020). Bioecological theory provides a framework for understanding how the four PPCT elements simultaneously shape one’s genetic counseling and testing experience (Bronfenbrenner & Evans, 2000; Rosa & Tudge, 2013).…”

Section: Methodsmentioning

confidence: 99%

Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences

Crook

Jacobs

Newton‐John

et al. 2022

Journal of Genetic Counseling

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Genetic counseling and diagnostic genetic testing is part of the multidisciplinary care of people with amyotrophic lateral sclerosis (ALS, commonly called motor neurone disease, MND) and frontotemporal dementia (FTD). We explored client experiences of genetic counseling and diagnostic testing to inform the care of future families. Semi‐structured interviews with individuals with ALS/MND/FTD or their relatives were conducted. The study was designed to include a wide variety of participants with varying disease status and abilities. Genetic counseling and diagnostic testing experiences were explored using interpretive description methodology. Bioecological theory was used as the framework for the reflexive thematic analysis. Eighteen individuals with ALS/MND/FTD or their relatives from 13 Australian families participated. Three themes were identified: sharing knowledge, (un)supportive care, and ‘circumstance is everything’. Consistent with bioecological theory, one’s genetic counseling experience was informed by individual circumstances, time, and proximal factors. These informed the level of information and support required in the genetic counseling process. Although some client circumstances cannot be changed, efforts could be made to enhance genetic counseling experiences by improving interactions between the client and their care team. Some clients may benefit from further discussions regarding the familial implications of genetic testing, and greater support with family communication. Clients’ needs were derived from the data and will contribute to genetic counseling consensus guidelines.

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Section: Methodsmentioning

confidence: 99%

Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences

Crook

Jacobs

Newton‐John

et al. 2022

Journal of Genetic Counseling

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“…In general, such testing should be a carefully considered decision following formal pre-test genetic counselling and thorough review of the implications of a positive or negative result [ 134 ]. Post-test genetic counselling is equally important for individuals who test positive or negative with pre-symptomatic testing [ 135 ]. Offering mental health supports can be highly beneficial, again irrespective of the test result [ 135 ].…”

Section: Genetic Counsellingmentioning

confidence: 99%

“…Post-test genetic counselling is equally important for individuals who test positive or negative with pre-symptomatic testing [ 135 ]. Offering mental health supports can be highly beneficial, again irrespective of the test result [ 135 ].…”

Section: Genetic Counsellingmentioning

confidence: 99%

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

Pfeffer

Lee

Pontifex

et al. 2022

Genes

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In this work, we review clinical features and genetic diagnosis of diseases caused by mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally diverse AAA-ATPase. VCP is crucial to a multitude of cellular functions including protein quality control, stress granule formation and clearance, and genomic integrity functions, among others. Pathogenic mutations in VCP cause multisystem proteinopathy (VCP-MSP), an autosomal dominant, adult-onset disorder causing dysfunction in several tissue types. It can result in complex neurodegenerative conditions including inclusion body myopathy, frontotemporal dementia, amyotrophic lateral sclerosis, or combinations of these. There is also an association with other neurodegenerative phenotypes such as Alzheimer-type dementia and Parkinsonism. Non-neurological presentations include Paget disease of bone and may also include cardiac dysfunction. We provide a detailed discussion of genotype-phenotype correlations, recommendations for genetic diagnosis, and genetic counselling implications of VCP-MSP.

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“…There can be psychological challenges encountered as a consequence of both positive and negative pre-symptomatic testing [ 22 ]. Genetic counselling follow-up should be offered for both mutation carriers and non-carriers, and clinicians should have awareness that additional mental health support may be of value in both situations [ 23 ]. Clinicians should be aware of challenges in genetic test result interpretation and genetic counseling, including the Genetic Non-Discrimination Act (GINA), and psychosocial considerations for both presymptomatic and symptomatic individuals.…”

Section: Introductionmentioning

confidence: 99%

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

Korb

Peck²,

Alfano

et al. 2022

Orphanet J Rare Dis

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Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget’s disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, pulmonology, supportive therapies, nutrition and supplements, and mental health. In April 2021, facilitated discussion of each working group’s conclusions with consensus building techniques enabled final agreement on the proposed standard of care for VCP patients. Timely referral to a specialty neuromuscular center is recommended to aid in efficient diagnosis of VCP MSP via single-gene testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases. Additionally, regular and ongoing multidisciplinary team follow up is essential for proactive screening and management of secondary complications. The goal of our consortium is to raise awareness of VCP MSP, expedite the time to accurate diagnosis, define gaps and inequities in patient care, initiate appropriate pharmacotherapies and supportive therapies for optimal management, and elevate the recommended best practices guidelines for multidisciplinary care internationally.

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Psychological reactions to predictive genetic testing for Huntington’s disease: A qualitative study

Cited by 20 publications

References 42 publications

Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences

Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

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