Core Outcome Development for Carrier Screening (CODECS) Study: Towards a Core Outcome Set for Reproductive Genetic Carrier Screening
- Publication Type:
- Thesis
- Issue Date:
- 2022
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๐๐ฎ๐ฐ๐ธ๐ด๐ฟ๐ผ๐๐ป๐ฑ: Reproductive genetic carrier screening (RGCS) provides prospective parents with information to understand their chance of having a child with a recessive genetic condition and informs reproductive decision-making. RGCS is well established in increased risk groups and is now transitioning to a population-based screening model with practice recommendations supporting its offer to all individuals planning a pregnancy or in the first trimester. Despite significant benefits being demonstrated in increased risk groups, there is little evidence regarding its impact when offered at population scale. Identifying and understanding which outcomes can meaningfully capture benefits and potential harms is key to informing the implementation of population-based RGCS. The Core Outcome Development for Carrier Screening (CODECS) study aims to establish a core outcome set (COS) for population-based RGCS.
๐ ๐ฒ๐๐ต๐ผ๐ฑ๐: The steps of the CODECS study reported in this thesis are (1) a systematic review of quantitative studies evaluating RGCS, (2) a sequential systematic review of qualitative studies, (3) qualitative interviews with patient stakeholders, and (4) a Delphi survey of Australian and New Zealand stakeholders.
๐ฅ๐ฒ๐๐๐น๐๐: The systematic review of quantitative studies identified 120 outcomes assessed in studies of RGCS (n=48). Outcome heterogeneity, bias and lack of patient-reported outcome measures were evident, providing a strong rationale for the development of a COS. The systematic review of qualitative studies (n=13) and qualitative interviews with patient stakeholders (n=15) identified outcomes of importance to patients that were not reflected in the quantitative literature, indicating that further work is needed to ensure outcomes relevant to patients are incorporated into research. Collated outcomes were reviewed in a Delphi survey of 12 expert panellists. Eight outcomes reached consensus regarding their critical importance for inclusion in all future studies and were used to define a preliminary COS.
๐๐ผ๐ป๐ฐ๐น๐๐๐ถ๐ผ๐ป: The development of a COS facilitates a rigorous approach to identifying โwhat to measureโ. This research identified significant gaps in the evidence base for population-based RGCS and highlighted the importance of assessing outcomes relevant to these gaps. The need for a patient-centred approach to outcome selection was central to the findings, with the incorporation of outcomes of importance to patients having the potential to enhance translation of research findings into clinical practice. A COS can address existing issues with research waste and ensure that future studies work towards a common goal of evidence-based practice recommendations. The findings presented here are crucial to inform the implementation of population-based RGCS and ensure best care for patients.
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