Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set.

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

Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set.

Richardson, E McEwen, A

Newton-John, T

Crook, A Jacobs, C

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Publisher:: Elsevier BV
Publication Type:: Journal Article
Citation:: Genet Med, 2022, 24, (1), pp. 1-14
Issue Date:: 2022-01-01

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Field	Value	Language
dc.contributor.author	Richardson, E
dc.contributor.author	McEwen, A https://orcid.org/0000-0001-8705-1190
dc.contributor.author	Newton-John, T https://orcid.org/0000-0003-4219-4985
dc.contributor.author	Crook, A
dc.contributor.author	Jacobs, C https://orcid.org/0000-0002-9557-9080
dc.date.accessioned	2022-01-24T23:55:04Z
dc.date.available	2021-09-10
dc.date.available	2022-01-24T23:55:04Z
dc.date.issued	2022-01-01
dc.identifier.citation	Genet Med, 2022, 24, (1), pp. 1-14
dc.identifier.issn	1098-3600
dc.identifier.issn	1530-0366
dc.identifier.uri	http://hdl.handle.net/10453/153518
dc.description.abstract	PURPOSE: Current practice recommendations support the widespread implementation of reproductive genetic carrier screening (RGCS). These consensus-based recommendations highlight a research gap, with findings from current studies being insufficient to meet the standard required for more rigorous evidence-based recommendations. This systematic review assessed methodological aspects of studies on RGCS to inform the need for a core outcome set. METHODS: We conducted a systematic search to identify peer-reviewed published studies offering population-based RGCS. Study designs, outcomes, and measurement methods were extracted. A narrative synthesis was conducting using an existing outcome taxonomy and criteria used in the evaluation of genetic screening programs as frameworks. RESULTS: Sixty-five publications were included. We extracted 120 outcomes representing 24 outcome domains. Heterogeneity in outcome selection, measurement methods and time points of assessment was extensive. Quality appraisal raised concerns for bias. We found that reported outcomes had limited applicability to criteria used to evaluate genetic screening programs. CONCLUSION: Despite a large body of literature, diverse approaches to research have limited the conclusions that can be cumulatively drawn from this body of evidence. Consensus regarding meaningful outcomes for evaluation of RGCS would be a valuable first step in working towards evidence-based practice recommendations, supporting the development of a core outcome set.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	Elsevier BV
dc.relation.ispartof	Genet Med
dc.relation.isbasedon	10.1016/j.gim.2021.08.005
dc.rights	info:eu-repo/semantics/restrictedAccess
dc.rights	This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
dc.subject	0604 Genetics, 1103 Clinical Sciences
dc.subject.classification	Genetics & Heredity
dc.title	Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set.
dc.type	Journal Article
utslib.citation.volume	24
utslib.location.activity	United States
utslib.for	0604 Genetics
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.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	*
pubs.consider-herdc	false
dc.date.updated	2022-01-24T23:55:02Z
pubs.issue	1
pubs.publication-status	Published online
pubs.volume	24
utslib.citation.issue	1

Abstract:

PURPOSE: Current practice recommendations support the widespread implementation of reproductive genetic carrier screening (RGCS). These consensus-based recommendations highlight a research gap, with findings from current studies being insufficient to meet the standard required for more rigorous evidence-based recommendations. This systematic review assessed methodological aspects of studies on RGCS to inform the need for a core outcome set. METHODS: We conducted a systematic search to identify peer-reviewed published studies offering population-based RGCS. Study designs, outcomes, and measurement methods were extracted. A narrative synthesis was conducting using an existing outcome taxonomy and criteria used in the evaluation of genetic screening programs as frameworks. RESULTS: Sixty-five publications were included. We extracted 120 outcomes representing 24 outcome domains. Heterogeneity in outcome selection, measurement methods and time points of assessment was extensive. Quality appraisal raised concerns for bias. We found that reported outcomes had limited applicability to criteria used to evaluate genetic screening programs. CONCLUSION: Despite a large body of literature, diverse approaches to research have limited the conclusions that can be cumulatively drawn from this body of evidence. Consensus regarding meaningful outcomes for evaluation of RGCS would be a valuable first step in working towards evidence-based practice recommendations, supporting the development of a core outcome set.

Please use this identifier to cite or link to this item:

http://hdl.handle.net/10453/153518