Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia.

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

Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia.

Crook, A

Jacobs, C

Newton-John, T

McEwen, A

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Publisher:: TAYLOR & FRANCIS LTD
Publication Type:: Journal Article
Citation:: Amyotroph Lateral Scler Frontotemporal Degener, 2022, 23, (7-8), pp. 562-574
Issue Date:: 2022-11

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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	2023-06-12T23:13:03Z
dc.date.available	2023-06-12T23:13:03Z
dc.date.issued	2022-11
dc.identifier.citation	Amyotroph Lateral Scler Frontotemporal Degener, 2022, 23, (7-8), pp. 562-574
dc.identifier.issn	2167-8421
dc.identifier.issn	2167-9223
dc.identifier.uri	http://hdl.handle.net/10453/170712
dc.description.abstract	Objective: Genetic counseling and diagnostic genetic testing are considered part of the multidisciplinary care of individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We aimed to investigate the ideal components of genetic counseling for ALS/FTD diagnostic testing amongst various stakeholders using an online, modified Delphi survey. Methods: Experts in genetic counseling and testing for ALS/FTD were purposively then snowball recruited and included genetic health professionals, health professionals outside of genetics and consumer experts (patients, relatives, and staff representatives from ALS/FTD support organizations). First-round items were informed by two systematic literature reviews and qualitative interviews with patients and families who had experienced diagnostic testing. Analysis of each round informed the development of the subsequent round and the final results. Results: Forty-six experts participated in the study, 95.65% completed both rounds. After round one, items were updated based on participant responses and were presented again for consensus in round two. After round two, a high level of consensus (≥80% agreement) was achieved on 16 items covering various topics related to genetic counseling service delivery, before and after diagnostic testing is facilitated. Conclusions: Genetic counseling for individuals with ALS/FTD and their families should include the provision of client-centered counseling, education and support throughout. The items developed are adaptable to varied healthcare settings and may inform a standard of genetic counseling practice for health professionals who facilitate testing and counseling discussions. This area of work is timely, given demand for testing is likely to increase as more genotype-driven clinical trials become available.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	TAYLOR & FRANCIS LTD
dc.relation.ispartof	Amyotroph Lateral Scler Frontotemporal Degener
dc.relation.isbasedon	10.1080/21678421.2022.2051553
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences, 1109 Neurosciences
dc.subject.mesh	Humans
dc.subject.mesh	Frontotemporal Dementia
dc.subject.mesh	Amyotrophic Lateral Sclerosis
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Pick Disease of the Brain
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Humans
dc.subject.mesh	Pick Disease of the Brain
dc.subject.mesh	Amyotrophic Lateral Sclerosis
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Frontotemporal Dementia
dc.subject.mesh	Humans
dc.subject.mesh	Frontotemporal Dementia
dc.subject.mesh	Amyotrophic Lateral Sclerosis
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Pick Disease of the Brain
dc.subject.mesh	Genetic Testing
dc.title	Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia.
dc.type	Journal Article
utslib.citation.volume	23
utslib.location.activity	England
utslib.for	1103 Clinical Sciences
utslib.for	1109 Neurosciences
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	2023-06-12T23:13:02Z
pubs.issue	7-8
pubs.publication-status	Published
pubs.volume	23
utslib.citation.issue	7-8

Abstract:

Objective: Genetic counseling and diagnostic genetic testing are considered part of the multidisciplinary care of individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We aimed to investigate the ideal components of genetic counseling for ALS/FTD diagnostic testing amongst various stakeholders using an online, modified Delphi survey. Methods: Experts in genetic counseling and testing for ALS/FTD were purposively then snowball recruited and included genetic health professionals, health professionals outside of genetics and consumer experts (patients, relatives, and staff representatives from ALS/FTD support organizations). First-round items were informed by two systematic literature reviews and qualitative interviews with patients and families who had experienced diagnostic testing. Analysis of each round informed the development of the subsequent round and the final results. Results: Forty-six experts participated in the study, 95.65% completed both rounds. After round one, items were updated based on participant responses and were presented again for consensus in round two. After round two, a high level of consensus (≥80% agreement) was achieved on 16 items covering various topics related to genetic counseling service delivery, before and after diagnostic testing is facilitated. Conclusions: Genetic counseling for individuals with ALS/FTD and their families should include the provision of client-centered counseling, education and support throughout. The items developed are adaptable to varied healthcare settings and may inform a standard of genetic counseling practice for health professionals who facilitate testing and counseling discussions. This area of work is timely, given demand for testing is likely to increase as more genotype-driven clinical trials become available.

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http://hdl.handle.net/10453/170712