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 Aug;26(8):101146. doi: 10.1016/j.gim.2024.101146. Epub 2024 Apr 24.
Measuring the effects of genomic sequencing (GS) on patients and families is critical for translational research. We aimed to develop and validate an instrument to assess parents' perceived utility of pediatric diagnostic GS.
Informed by a 5-domain conceptual model, the study comprised 5 steps: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Parents of pediatric patients who had received results of clinically indicated GS participated in structured cognitive interviews and 2 rounds of surveys. After eliminating items based on theory and quantitative performance, we conducted an exploratory factor analysis and calculated Pearson correlations with related instruments.
We derived the 21-item Pediatric Diagnostic version of the GENEtic Utility (GENE-U) scale, which has a 2-factor structure that includes an Informational Utility subscale (16 items, α = 0.91) and an Emotional Utility subscale (5 items, α = 0.71). Scores can be summed to calculate a Total scale score (α = 0.87). The Informational Utility subscale was strongly associated with empowerment and personal utility of GS, and the Emotional Utility subscale was moderately associated with psychosocial impact and depression and anxiety.
The pediatric diagnostic GENE-U scale demonstrated good psychometric performance in this initial evaluation and could be a useful tool for translational genomics researchers, warranting additional validation.
衡量基因组测序（GS）对患者及其家庭的影响对转化研究至关重要。我们旨在开发和验证一种评估父母对儿科诊断性 GS 感知效用的工具。
在 5 个领域概念模型的指导下，该研究包括 5 个步骤：（1）项目撰写，（2）认知测试，（3）试点测试和项目缩减，（4）心理测量学测试，以及（5）构建有效性评估。接受临床指示性 GS 结果的儿科患者的父母参加了结构化认知访谈和 2 轮调查。在根据理论和定量表现消除项目后，我们进行了探索性因素分析，并与相关工具计算了 Pearson 相关性。
我们得出了 21 项儿科诊断版 GENETic 效用（GENE-U）量表，该量表具有 2 个因素结构，包括信息效用子量表（16 项，α=0.91）和情感效用子量表（5 项，α=0.71）。分数可以相加计算总量表分数（α=0.87）。信息效用子量表与 GS 的赋权和个人效用密切相关，而情感效用子量表与心理社会影响以及抑郁和焦虑中度相关。
儿科诊断性 GENE-U 量表在初步评估中表现出良好的心理测量性能，可能成为转化基因组学研究人员的有用工具，值得进一步验证。
