Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing

IF 6.6 1区医学 Q1 GENETICS & HEREDITY Genetics in Medicine Pub Date : 2024-08-01 DOI:10.1016/j.gim.2024.101146

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Abstract

Purpose

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.

Methods

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.

Results

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.

Conclusion

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.

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衡量基因组测序的认知效用：为儿科诊断测试开发和验证基因效用（GENE-U）量表

目的衡量基因组测序（GS）对患者和家庭的影响对于转化研究至关重要。我们旨在开发并验证一种工具，以评估家长对儿科诊断性基因组测序的感知效用。方法根据 5 个领域的概念模型，该研究包括 5 个步骤：研究包括 5 个步骤：(1) 项目编写；(2) 认知测试；(3) 试点测试和项目缩减；(4) 心理测试；(5) 构建有效性评估。收到临床指示性 GS 结果的儿科患者的家长参加了结构化认知访谈和两轮调查。根据理论和定量表现剔除项目后，我们进行了探索性因子分析，并计算了与相关工具的皮尔逊相关性。结果我们得出了 21 个项目的儿科诊断版基因效用量表（GENE-U），该量表具有双因子结构，包括信息效用子量表（16 个项目，α = 0.91）和情感效用子量表（5 个项目，α = 0.71）。分数相加可计算出量表总分（α = 0.87）。信息效用分量表与GS的授权和个人效用密切相关，情感效用分量表与心理社会影响、抑郁和焦虑有中等程度的关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.