Research on genetic counseling outcomes has examined a range of metrics many that differ in quality and extent of psychometric assessment and in some cases fail to encompass potential benefits of genetic counseling for patients. Although a variety of possible outcomes have been explored, selecting the most important or relevant outcomes and identifying well-validated measures remain challenging. An online, modified Delphi method was used to prioritize genetic counseling outcomes from the viewpoint of individuals from four stakeholder groups – clinical genetic counselors, outcome researchers, genetic counseling training directors, and genetic counseling consumers/advocates. A survey of 181 genetic counseling outcomes were rated based on perceived importance and then sorted and categorized using the Framework for Outcomes of Clinical Communication Services in Genetic Counseling (FOCUS-GC) framework. Three of the FOCUS-GC domains (Process, Patient Care Experience, and Patient Changes) were assessed as most important, while none of the most highly rated outcomes fell into the domains of Patient Health or Family Changes. The majority of outcomes deemed most important by stakeholder groups were within the process domain. When looking at the proportion of outcomes that overlapped with the consumer group, clinical genetic counselors had the highest degree of similarity with consumers when looking at the high relative importance band outcomes (61.1% overlap), followed by training directors (58.3%), and outcome researchers (41.7%). Variability in importance according to stakeholder groups was an important consideration and prioritizing outcomes was challenging given that the majority of outcomes were rated as important. Working to bridge the realities of clinical care and fundamental differences in the viewpoints and priorities of genetic counseling research directions is an area for future exploration.

中文翻译：

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优先考虑遗传咨询结果的德尔福研究：什么最重要

对遗传咨询结果的研究已经检查了一系列指标，其中许多指标在心理测量评估的质量和范围上有所不同，并且在某些情况下未能涵盖遗传咨询对患者的潜在益处。尽管已经探索了各种可能的结果，但选择最重要或最相关的结果并确定经过充分验证的措施仍然具有挑战性。从四个利益相关者群体——临床遗传咨询师、结果研究人员、遗传咨询培训主任和遗传咨询消费者/倡导者——的个人的角度，使用一种在线的、改进的德尔菲方法来确定遗传咨询结果的优先级。根据感知的重要性对 181 项遗传咨询结果的调查进行了评级，然后使用遗传咨询临床交流服务结果框架 (FOCUS-GC) 框架进行分类。FOCUS-GC 领域中的三个（过程、患者护理体验和患者变化）被评估为最重要的，而评分最高的结果没有一个属于患者健康或家庭变化领域。利益相关者团体认为最重要的大多数结果都在过程域内。在查看与消费者群体重叠的结果比例时，临床遗传咨询师在查看高相对重要性带结果时与消费者的相似度最高（61.1% 重叠），其次是培训主管（58.3%），和结果研究人员（41.7%）。利益相关者群体的重要性差异是一个重要的考虑因素，鉴于大多数结果被评为重要，因此对结果进行优先排序具有挑战性。努力弥合临床护理的现实和遗传咨询研究方向的观点和优先事项的根本差异是未来探索的领域。