The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set

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

The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set

Richardson, E McEwen, A Newton-John, T

Manera, K Jacobs, C

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Publisher:: Springer Science and Business Media LLC
Publication Type:: Journal Article
Citation:: Trials, 2021, 22, (1), pp. 480
Issue Date:: 2021-07-22

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Field	Value	Language
dc.contributor.author	Richardson, E
dc.contributor.author	McEwen, A
dc.contributor.author	Newton-John, T https://orcid.org/0000-0003-4219-4985
dc.contributor.author	Manera, K
dc.contributor.author	Jacobs, C https://orcid.org/0000-0002-9557-9080
dc.date.accessioned	2021-12-03T03:09:48Z
dc.date.available	2021-07-09
dc.date.available	2021-12-03T03:09:48Z
dc.date.issued	2021-07-22
dc.identifier.citation	Trials, 2021, 22, (1), pp. 480
dc.identifier.issn	1745-6215
dc.identifier.issn	1745-6215
dc.identifier.uri	http://hdl.handle.net/10453/152052
dc.description.abstract	<h4>Background</h4>Reproductive genetic carrier screening is a type of genetic testing available to those planning a pregnancy, or during their first trimester, to understand their risk of having a child with a severe genetic condition. There is a lack of consensus for 'what to measure' in studies on this intervention, leading to heterogeneity in choice of outcomes and methods of measurement. Such outcome heterogeneity has implications for the quality and comparability of these studies and has led to a lack of robust research evidence in the literature to inform policy and decision-making around the offer of this screening. As reproductive genetic carrier screening becomes increasingly accessible within the general population, it is timely to investigate the outcomes of this intervention.<h4>Objectives</h4>The development of a core outcome set is an established methodology to address issues with outcome heterogeneity in research. We aim to develop a core outcome set for reproductive genetic carrier screening to clarify and standardise outcomes for research and practice.<h4>Methods</h4>In accordance with guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative, this study will consist of five steps: (i) a systematic review of quantitative studies, using narrative synthesis to identify previously reported outcomes, their definitions, and methods of measurement; (ii) a systematic review of qualitative studies using content analysis to identify excerpts related to patient experience and perspectives that can be interpreted as outcomes; (iii) semi-structured focus groups and interviews with patients who have undertaken reproductive genetic carrier screening to identify outcomes of importance to them; (iv) Delphi survey of key stakeholders, including patients, clinicians, and researchers, to refine and prioritise the list of outcomes generated from the previous steps; and (v) a virtual consensus meeting with a purposive sample of key stakeholders to finalise the core outcome set for reporting.<h4>Discussion</h4>This protocol outlines the core outcome set development process and its novel application in the setting of genetic testing. This core outcome set will support the standardisation of outcome reporting in reproductive carrier screening research and contribute to an evolving literature on outcomes to evaluate genetic testing and genetic counselling as health interventions. COMET CORE OUTCOME SET REGISTRATION: http://www.comet-initiative.org/Studies/Details/1381 .
dc.format	Electronic
dc.language	eng
dc.publisher	Springer Science and Business Media LLC
dc.relation.ispartof	Trials
dc.relation.isbasedon	10.1186/s13063-021-05439-7
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1102 Cardiorespiratory Medicine and Haematology, 1103 Clinical Sciences
dc.subject.classification	Cardiovascular System & Hematology
dc.subject.classification	General & Internal Medicine
dc.subject.mesh	Humans
dc.subject.mesh	Treatment Outcome
dc.subject.mesh	Endpoint Determination
dc.subject.mesh	Consensus
dc.subject.mesh	Pregnancy
dc.subject.mesh	Research Design
dc.subject.mesh	Delphi Technique
dc.subject.mesh	Child
dc.subject.mesh	Female
dc.subject.mesh	Clinical Studies as Topic
dc.subject.mesh	Child
dc.subject.mesh	Clinical Studies as Topic
dc.subject.mesh	Consensus
dc.subject.mesh	Delphi Technique
dc.subject.mesh	Endpoint Determination
dc.subject.mesh	Female
dc.subject.mesh	Humans
dc.subject.mesh	Pregnancy
dc.subject.mesh	Research Design
dc.subject.mesh	Treatment Outcome
dc.title	The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set
dc.type	Journal Article
utslib.citation.volume	22
utslib.location.activity	England
utslib.for	1102 Cardiorespiratory Medicine and Haematology
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	2021-12-03T03:09:44Z
pubs.issue	1
pubs.publication-status	Published
pubs.volume	22
utslib.citation.issue	1

Abstract:

Background

Reproductive genetic carrier screening is a type of genetic testing available to those planning a pregnancy, or during their first trimester, to understand their risk of having a child with a severe genetic condition. There is a lack of consensus for 'what to measure' in studies on this intervention, leading to heterogeneity in choice of outcomes and methods of measurement. Such outcome heterogeneity has implications for the quality and comparability of these studies and has led to a lack of robust research evidence in the literature to inform policy and decision-making around the offer of this screening. As reproductive genetic carrier screening becomes increasingly accessible within the general population, it is timely to investigate the outcomes of this intervention.

Objectives

The development of a core outcome set is an established methodology to address issues with outcome heterogeneity in research. We aim to develop a core outcome set for reproductive genetic carrier screening to clarify and standardise outcomes for research and practice.

Methods

In accordance with guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative, this study will consist of five steps: (i) a systematic review of quantitative studies, using narrative synthesis to identify previously reported outcomes, their definitions, and methods of measurement; (ii) a systematic review of qualitative studies using content analysis to identify excerpts related to patient experience and perspectives that can be interpreted as outcomes; (iii) semi-structured focus groups and interviews with patients who have undertaken reproductive genetic carrier screening to identify outcomes of importance to them; (iv) Delphi survey of key stakeholders, including patients, clinicians, and researchers, to refine and prioritise the list of outcomes generated from the previous steps; and (v) a virtual consensus meeting with a purposive sample of key stakeholders to finalise the core outcome set for reporting.

Discussion

This protocol outlines the core outcome set development process and its novel application in the setting of genetic testing. This core outcome set will support the standardisation of outcome reporting in reproductive carrier screening research and contribute to an evolving literature on outcomes to evaluate genetic testing and genetic counselling as health interventions. COMET CORE OUTCOME SET REGISTRATION: http://www.comet-initiative.org/Studies/Details/1381 .

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

http://hdl.handle.net/10453/152052