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

Abstract

Abstract Understanding the benefits of health interventions is needed to inform best practice and ensure responsible implementation of new approaches to patient care. The assessment of outcomes is an important part of demonstrating these benefits. There is no current consensus about which outcomes are appropriate for the evaluation of genetic health interventions, including genetic testing and genetic counselling. The Core Outcome DEvelopment for Carrier Screening study has addressed this lack of guidance by undertaking a systematic approach to understanding the outcomes that can meaningfully capture the benefits of reproductive genetic carrier screening (RGCS). Herein, we report on a consensus process to determine the degree of consensus among Australian and New Zealand stakeholders regarding the core outcomes of RGCS. An iterative, two-round online Delphi survey was conducted. Panellists ranked 83 outcomes according to their perceived importance on a nine-point Likert scale. Using the distribution of rankings, outcomes were grouped into tiers representative of their perceived level of importance and agreement between groups. The top tier outcomes were agreed to be critically important for all future studies and were used to define a preliminary core outcome set encompassing the domains (1) primary laboratory outcomes, (2) pregnancy outcomes, (3) resource use and (4) perceived utility of RGCS. These findings will help to guide the selection of meaningful outcomes in studies aiming to evaluate the value of RGCS. A future international consensus process will expand on these findings and guide the inclusion of diverse perspectives across the range of settings in which RGCS is offered.