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

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

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

Crook, A

Jacobs, C

Newton-John, T

McEwen, A

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Publisher:: WILEY
Publication Type:: Journal Article
Citation:: J Genet Couns, 2022, 31, (5), pp. 1206-1218
Issue Date:: 2022-10

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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	McEwen, A https://orcid.org/0000-0001-8705-1190
dc.date.accessioned	2023-06-13T07:06:18Z
dc.date.available	2022-05-07
dc.date.available	2023-06-13T07:06:18Z
dc.date.issued	2022-10
dc.identifier.citation	J Genet Couns, 2022, 31, (5), pp. 1206-1218
dc.identifier.issn	1059-7700
dc.identifier.issn	1573-3599
dc.identifier.uri	http://hdl.handle.net/10453/170733
dc.description.abstract	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.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	WILEY
dc.relation.ispartof	J Genet Couns
dc.relation.isbasedon	10.1002/jgc4.1591
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences
dc.subject.classification	Genetics & Heredity
dc.subject.mesh	Amyotrophic Lateral Sclerosis
dc.subject.mesh	Australia
dc.subject.mesh	Frontotemporal Dementia
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Humans
dc.subject.mesh	Humans
dc.subject.mesh	Amyotrophic Lateral Sclerosis
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Australia
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Frontotemporal Dementia
dc.subject.mesh	Amyotrophic Lateral Sclerosis
dc.subject.mesh	Australia
dc.subject.mesh	Frontotemporal Dementia
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Humans
dc.title	Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences.
dc.type	Journal Article
utslib.citation.volume	31
utslib.location.activity	United States
utslib.for	1103 Clinical 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.Genetic Counselling
pubs.organisational-group	/University of Technology Sydney/Centre for Health Technologies (CHT)
utslib.copyright.status	open_access	*
dc.date.updated	2023-06-13T07:06:15Z
pubs.issue	5
pubs.publication-status	Published
pubs.volume	31
utslib.citation.issue	5

Abstract:

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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http://hdl.handle.net/10453/170733