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

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.

Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review

“…Current practice recommendations supporting the offer of RGCS have instead relied on a consensus-based approach [ 1 – 3 ]. The Core Outcome Development for Carrier Screening (CODECS) Study aims to address this issue by developing a set of agreed outcomes in collaboration with key stakeholders including patients, health professionals, researchers and policy-makers; known as a core outcome set (COS) [ 4 ]. A COS is a minimum set of outcomes that should be measured and reported in all studies on a particular topic and can improve the overall quality, comparability and synthesis of research findings in a body of literature.…”

Core outcome set for peripheral regional anesthesia research: a systematic review and Delphi study

“…There is no accepted standard for consensus thresholds in COS development, with most setting a threshold of greater than 70% of stakeholders rating an outcome as critically important 5. A slightly higher threshold of 75% has been favored by some authors12–14 to increase rigor in the final step and this was agreed by our steering committee for the third round. Lower thresholds were selected for the preceding rounds to allow outcomes to be appraised with the benefit of comments and voting from all participants.…”

Measuring quality and value in genetic counseling: The current landscape and future directions

“…Systematic reviews of outcomes used in genetic counseling research (Athens et al, 2017; Madlensky et al, 2017) and in evaluating clinical genetics services (Payne et al, 2008) have found a lack of standardization in the tools used for measuring outcomes. This limits the ability to compare findings across studies (Resta, 2019; Richardson et al, 2021).…”