Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set

Abstract

There is significant heterogeneity in the outcomes assessed across studies of reproductive genetic carrier screening (RGCS). Only a small number of studies have measured patient-reported outcomes or included patients in the selection of outcomes that are meaningful to them. This study was a cross-sectional, qualitative study of 15 patient participants conducted to inform a core outcome set. A core outcome set is an approach to facilitate standardisation in outcome reporting, allowing direct comparison of outcomes across studies to enhance understanding of impacts and potential harms. The aim of this study was to incorporate the patient perspective in the development of a core outcome set by eliciting a detailed understanding of outcomes of importance to patients. Data were collected via online, semi-structured interviews using a novel method informed by co-design and the nominal group technique. Data were analysed using reflexive thematic analysis. Outcomes elicited from patient stakeholder interviews highlighted several under-explored areas for future research. This includes the role of grief and loss in increased risk couples, the role of empowerment in conceptualising the utility of RGCS, the impact of societal context and barriers that contribute to negative experiences, and the role of genetic counselling in ensuring that information needs are met and informed choice facilitated as RGCS becomes increasingly routine. Future research should focus on incorporating outcomes that accurately reflect patient needs and experience.

Defining Core Outcomes of Reproductive Genetic Carrier Screening: A Delphi survey of Australian and New Zealand stakeholders

“…Previous work highlights patient perceptions that reproductive empowerment most accurately captures the utility of RGCS. 18,19 Empowerment considers behaviour in the wider context of cognitive capacity, knowledge and emotional state. 7 Building on these patient-derived ndings, the participants in the study reported here perceived utility as a multifaceted concept requiring the assessment of multiple relevant outcomes encompassing broad societal impact (disease incidence or number of affected births), speci c actions (reproductive decisions made by increased risk couples) and the patient perspective (feeling empowered to make reproductive decisions that align with patient values).…”

“…Patient participants were identi ed from previous stakeholder consultations in which co-design methods were used to elicit outcomes of importance to patients and had provided consent to be approached for the Delphi survey. 19 Health professional participants were identi ed by the rst and last authors of publications included in our sequential systematic review 17,18 , listed committee members from key policy and practice recommendations, and through professional networks within AUS/NZ.…”

“…All outcomes collected from the systematic review process 17,18 and qualitative interviews with patient stakeholders 19 were collated into a block diagram. The combined list comprised 175 outcomes across 25 CODECS outcome domains.…”

“…18 Consultations with patient stakeholders further re-iterated the importance of these patient-led outcomes as a focus for future research. 19 A consensus process through which all collated outcomes from previous steps are reviewed, re ned and prioritised by key stakeholders is the culmination of a core outcome development study. The goal of this process is to determine which outcomes are the most important to de ne as core outcomes that should be reported in all future studies on RGCS.…”

Defining core outcomes of reproductive genetic carrier screening: A Delphi survey of Australian and New Zealand stakeholders

“…18 Consultations with patient stakeholders further re-iterated the importance of these patient-led outcomes as a focus for future research. 19 A consensus process through which all collated outcomes from previous steps are reviewed, refined and prioritised by key stakeholders is the culmination of a core outcome development study. The goal of this process is to determine which outcomes are the most important to define as core outcomes that should be reported in all future studies on RGCS.…”