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

Crook, A; Jacobs, C; Newton-John, T; O’Shea, R; McEwen, A

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

Crook, A

Jacobs, C

Newton-John, T

O’Shea, R McEwen, A

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Publisher:: SPRINGER HEIDELBERG
Publication Type:: Journal Article
Citation:: Journal of Neurology, 2021
Issue Date:: 2021-03-01

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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	O’Shea, R
dc.contributor.author	McEwen, A https://orcid.org/0000-0001-8705-1190
dc.date.accessioned	2021-07-13T07:53:38Z
dc.date.available	2021-02-10
dc.date.available	2021-07-13T07:53:38Z
dc.date.issued	2021-03-01
dc.identifier.citation	Journal of Neurology, 2021
dc.identifier.issn	0340-5354
dc.identifier.issn	1432-1459
dc.identifier.uri	http://hdl.handle.net/10453/149867
dc.description.abstract	<h4>Objective</h4>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.<h4>Methods</h4>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).<h4>Results</h4>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.<h4>Conclusion</h4>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.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	SPRINGER HEIDELBERG
dc.relation.ispartof	Journal of Neurology
dc.relation.isbasedon	10.1007/s00415-021-10461-5
dc.rights	This is a post-peer-review, pre-copyedit version of an article published in [Journal of Neurology]. The final authenticated version is available online at: https://link.springer.com/article/10.1007/s00415-021-10461-5]”
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences, 1109 Neurosciences
dc.subject.classification	Neurology & Neurosurgery
dc.title	Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review
dc.type	Journal Article
utslib.location.activity	Germany
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.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	open_access	*
dc.date.updated	2021-07-13T07:53:36Z
pubs.publication-status	Published

Abstract:

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.

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http://hdl.handle.net/10453/149867