Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia.
Prenat Diagn. 2023 Aug;43(9):1150-1165. doi: 10.1002/pd.6410. Epub 2023 Aug 1.
Understanding the value, benefits and harms of health interventions is needed to inform best practice and ensure responsible implementation of new approaches to patient care. Such value is demonstrated through the assessment of outcomes; however, which outcomes are assessed is often highly varied across studies and can hinder the ability to draw robust conclusions. The Core Outcome Development for Carrier Screening study aims to understand the outcomes that can meaningfully capture the value of reproductive genetic carrier screening (RGCS).
The authors report an iterative, two-round online Delphi survey of Australian and New Zealand stakeholders to determine the degree of consensus regarding the core outcomes of RGCS. 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 represent those agreed to be critically important for all future studies of RGCS to assess 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 can guide the selection of meaningful outcomes in studies aiming to demonstrate 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.
为了指导最佳实践并确保负责任地实施新的患者护理方法，需要了解卫生干预措施的价值、益处和危害。这种价值是通过评估结果来体现的；然而，在研究中，评估哪些结果往往差异很大，这可能会阻碍得出强有力的结论的能力。生殖遗传携带者筛查核心结局开发研究旨在了解能够有意义地捕捉生殖遗传携带者筛查 (RGCS) 价值的结果。
作者报告了一项针对澳大利亚和新西兰利益相关者的迭代式、两轮在线德尔菲调查，以确定 RGCS 核心结局的共识程度。小组成员根据其在 9 分李克特量表上的感知重要性对 83 项结果进行了排名。根据排名的分布，将结果分为不同的层次，以代表其感知的重要性水平和组间的一致性。
排在前几位的结果代表着所有未来 RGCS 研究都认为非常重要的评估结果，用于定义一个初步的核心结果集，涵盖以下领域：（1）主要实验室结果，（2）妊娠结果，（3）资源使用情况，以及（4）RGCS 的感知效用。
这些发现可以指导旨在证明 RGCS 价值的研究中选择有意义的结果。未来的国际共识过程将扩展这些发现，并指导在提供 RGCS 的各种环境中纳入多样化的观点。
