Standardized approaches to measuring clinical utility will enable more robust evaluations of genetic tests. To characterize how clinical utility has been measured, this scoping review examined outcomes used to operationalize this concept in the context of genetic testing, spanning relevant literature (2015–2017). The search strategy and analysis were guided by the Fryback and Thornbury hierarchical model of efficacy (FT Model). Through searches in Ovid MEDLINE, EMBASE and Web of Science, 194 publications were identified for inclusion. Two coders reviewed titles, abstracts, and full texts to determine eligibility. Results were analyzed using thematic and frequency analyses. This review generated a catalog of outcomes mapped to the efficacy domains of the FT Model. The degree of representation observed in each domain varied by the clinical purpose and clinical indication of genetic testing. Diagnostic accuracy (68%), technical (28.4%), and patient outcome (28.4%) efficacy studies were represented at the highest rate. Findings suggest that the FT Model is suitable for the genetics context however domain refinements may be warranted. More diverse clinical settings, robust study designs, and novel strategies for measuring clinical utility are needed.

衡量临床效用的标准化方法将使基因测试的评估更加稳健。为了描述如何衡量临床效用，本范围审查审查了用于在基因检测背景下实施这一概念的结果，涵盖相关文献（2015-2017 年）。搜索策略和分析由 Fryback 和 Thornbury 疗效分层模型 (FT 模型) 指导。通过在 Ovid MEDLINE、EMBASE 和 Web of Science 中进行搜索，确定了 194 篇出版物可供收录。两名编码员审查了标题、摘要和全文以确定资格。使用主题和频率分析对结果进行了分析。该审查生成了映射到 FT 模型功效域的结果目录。在每个领域观察到的代表性程度因基因检测的临床目的和临床适应症而异。诊断准确性 (68%)、技术 (28.4%) 和患者结果 (28.4%) 疗效研究的比例最高。研究结果表明，FT 模型适用于遗传学背景，但可能需要进行域细化。需要更多样化的临床环境、稳健的研究设计和衡量临床效用的新策略。