Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.

Crook, A; Jacobs, C; Newton-John, T; Richardson, E; McEwen, A

Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.

Crook, A

Jacobs, C

Newton-John, T

Richardson, E McEwen, A

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Publisher:: Ovid Technologies (Wolters Kluwer Health)
Publication Type:: Journal Article
Citation:: Alzheimer Dis Assoc Disord, 2021, 35, (4), pp. 374-385
Issue Date:: 2021-10

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Field	Value	Language
dc.contributor.author	Crook, A https://orcid.org/0000-0001-5578-0460
dc.contributor.author	Jacobs, C https://orcid.org/0000-0002-9557-9080
dc.contributor.author	Newton-John, T https://orcid.org/0000-0003-4219-4985
dc.contributor.author	Richardson, E
dc.contributor.author	McEwen, A https://orcid.org/0000-0001-8705-1190
dc.date.accessioned	2022-01-24T23:51:11Z
dc.date.available	2021-04-13
dc.date.available	2022-01-24T23:51:11Z
dc.date.issued	2021-10
dc.identifier.citation	Alzheimer Dis Assoc Disord, 2021, 35, (4), pp. 374-385
dc.identifier.issn	0893-0341
dc.identifier.issn	1546-4156
dc.identifier.uri	http://hdl.handle.net/10453/153517
dc.description.abstract	Genetic testing and counseling is an emerging part of care for patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and their families. This scoping review aimed to map patients' and relatives' experiences of genetic testing and counseling for familial ALS and FTD and the factors influencing their decision to proceed with testing or counseling. Informed by the Joanna Briggs Institute methodology, 5 databases were systematically searched. Thirty studies from 39 references were included. A descriptive numerical summary analysis and narrative synthesis was conducted. Mostly positive diagnostic testing experiences were reported, but issues arose due to progressive disease and discordant results. Predictive testing impacted at-risk relatives, regardless of the result received, and psychosocial sequelae ranged from relief to guilt, worry or contemplating suicide. Four reproductive testing experiences were reported. Personal, familial and practical factors, and the lived experience of disease, informed decision-making. Greater uncertainty and complexity may be faced in familial ALS/FTD than in other late-onset neurodegenerative diseases due to clinical and genetic heterogeneity, and testing limitations. Genetic counseling models of care should consider this difference to ensure that individuals with, or at risk of, ALS/FTD are effectively managed. Implications for research and practice are discussed.
dc.format	Print
dc.language	eng
dc.publisher	Ovid Technologies (Wolters Kluwer Health)
dc.relation.ispartof	Alzheimer Dis Assoc Disord
dc.relation.isbasedon	10.1097/WAD.0000000000000458
dc.rights	info:eu-repo/semantics/restrictedAccess
dc.subject	1103 Clinical Sciences, 1109 Neurosciences, 1702 Cognitive Sciences
dc.subject.classification	Geriatrics
dc.subject.mesh	Amyotrophic Lateral Sclerosis
dc.subject.mesh	Counseling
dc.subject.mesh	Frontotemporal Dementia
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Humans
dc.title	Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.
dc.type	Journal Article
utslib.citation.volume	35
utslib.location.activity	United States
utslib.for	1103 Clinical Sciences
utslib.for	1109 Neurosciences
utslib.for	1702 Cognitive Sciences
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
pubs.organisational-group	/University of Technology Sydney/Strength - CHT - Health Technologies
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Clinical Psychology
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Genetic Counselling
pubs.organisational-group	/University of Technology Sydney/Centre for Health Technologies (CHT)
utslib.copyright.status	recently_added	*
dc.date.updated	2022-01-24T23:51:09Z
pubs.issue	4
pubs.publication-status	Published
pubs.volume	35
utslib.citation.issue	4

Abstract:

Genetic testing and counseling is an emerging part of care for patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and their families. This scoping review aimed to map patients' and relatives' experiences of genetic testing and counseling for familial ALS and FTD and the factors influencing their decision to proceed with testing or counseling. Informed by the Joanna Briggs Institute methodology, 5 databases were systematically searched. Thirty studies from 39 references were included. A descriptive numerical summary analysis and narrative synthesis was conducted. Mostly positive diagnostic testing experiences were reported, but issues arose due to progressive disease and discordant results. Predictive testing impacted at-risk relatives, regardless of the result received, and psychosocial sequelae ranged from relief to guilt, worry or contemplating suicide. Four reproductive testing experiences were reported. Personal, familial and practical factors, and the lived experience of disease, informed decision-making. Greater uncertainty and complexity may be faced in familial ALS/FTD than in other late-onset neurodegenerative diseases due to clinical and genetic heterogeneity, and testing limitations. Genetic counseling models of care should consider this difference to ensure that individuals with, or at risk of, ALS/FTD are effectively managed. Implications for research and practice are discussed.

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http://hdl.handle.net/10453/153517