PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School, Boston, MA; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
San Diego State University/University of California San Diego Joint Doctoral Program in Clinical Psychology, San Diego, CA.
Genet Med. 2024 Nov;26(11):101240. doi: 10.1016/j.gim.2024.101240. Epub 2024 Aug 10.
As population-based screening programs to identify genetic conditions in adults using genomic sequencing (GS) are increasingly available, validated patient-centered outcome measures are needed to understand participants' experience. We aimed to develop and validate an instrument to assess the perceived utility of GS in the context of adult screening.
Informed by a 5-domain conceptual model, we used a 5-step approach to instrument development and validation: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Adults undergoing risk-based or population-based GS who had received GS results as part of ongoing research studies participated in structured cognitive interviews and 2 rounds of surveys. After item pool refinement, we conducted an exploratory factor analysis and calculated Pearson correlations with related instruments.
We derived the 18-item Adult Screening version of the GENEtic Utility scale (total sum score α = .87). Mirroring the Pediatric Diagnostic version, the instrument has a 2-factor structure, including an Informational Utility subscale (14 items, α = .89) and an Emotional Utility subscale (4 items, α = .75). The Informational Utility subscale was strongly associated with empowerment and personal utility of GS. Correlations of the Emotional Utility subscale with psychosocial impact and anxiety and depression were weak to moderate.
Initial psychometric testing of the Adult Screening GENEtic Utility scale demonstrates its promise, and additional validation in translational genomics research is warranted.
随着基于人群的成人基因测序（GS）筛查计划越来越普及，需要有效的以患者为中心的结局评估指标来了解参与者的体验。我们旨在开发和验证一种用于评估成人筛查中 GS 感知效用的工具。
基于 5 个领域的概念模型，我们使用 5 步方法进行工具开发和验证：（1）条目编写；（2）认知测试；（3）试点测试和条目删减；（4）心理测量学测试；（5）构建效度评估。参与风险或基于人群的 GS 且已作为正在进行的研究的一部分收到 GS 结果的成年人接受了结构化认知访谈和 2 轮调查。在条目池精炼后，我们进行了探索性因子分析，并与相关工具计算了 Pearson 相关性。
我们得出了 18 项成人筛查版基因效用量表（总得分α=0.87）。与儿科诊断版相似，该工具具有 2 个因子结构，包括信息效用子量表（14 项，α=0.89）和情感效用子量表（4 项，α=0.75）。信息效用子量表与 GS 的赋权和个人效用密切相关。情感效用子量表与心理社会影响和焦虑抑郁的相关性较弱到中度。
成人筛查基因效用量表的初步心理测量学测试表明其具有潜力，在转化基因组学研究中需要进一步验证。
