Department of Computer Science, Middlebury College, Middlebury, Vermont, USA.
The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Public Health Genomics. 2021;24(5-6):291-303. doi: 10.1159/000515006. Epub 2021 May 31.
Genomic testing is increasingly employed in clinical, research, educational, and commercial contexts. Genomic literacy is a prerequisite for the effective application of genomic testing, creating a corresponding need for validated tools to assess genomics knowledge. We sought to develop a reliable measure of genomics knowledge that incorporates modern genomic technologies and is informative for individuals with diverse backgrounds, including those with clinical/life sciences training.
We developed the GKnowM Genomics Knowledge Scale to assess the knowledge needed to make an informed decision for genomic testing, appropriately apply genomic technologies and participate in civic decision-making. We administered the 30-item draft measure to a calibration cohort (n = 1,234) and subsequent participants to create a combined validation cohort (n = 2,405). We performed a multistage psychometric calibration and validation using classical test theory and item response theory (IRT) and conducted a post-hoc simulation study to evaluate the suitability of a computerized adaptive testing (CAT) implementation.
Based on exploratory factor analysis, we removed 4 of the 30 draft items. The resulting 26-item GKnowM measure has a single dominant factor. The scale internal consistency is α = 0.85, and the IRT 3-PL model demonstrated good overall and item fit. Validity is demonstrated with significant correlation (r = 0.61) with an existing genomics knowledge measure and significantly higher scores for individuals with adequate health literacy and healthcare providers (HCPs), including HCPs who work with genomic testing. The item bank is well suited to CAT, achieving high accuracy (r = 0.97 with the full measure) while administering a mean of 13.5 items.
GKnowM is an updated, broadly relevant, rigorously validated 26-item measure for assessing genomics knowledge that we anticipate will be useful for assessing population genomic literacy and evaluating the effectiveness of genomics educational interventions.
基因组测试越来越多地应用于临床、研究、教育和商业领域。基因组素养是有效应用基因组测试的前提，因此需要有经过验证的工具来评估基因组学知识。我们旨在开发一种可靠的衡量基因组知识的方法，该方法结合了现代基因组技术，并且对具有不同背景的个体（包括具有临床/生命科学培训背景的个体）具有信息性。
我们开发了 GKnowM 基因组知识量表，以评估做出明智的基因组测试决策、适当地应用基因组技术和参与公民决策所需的知识。我们向校准队列（n=1234）和随后的参与者管理了 30 项草案措施，以创建一个综合验证队列（n=2405）。我们使用经典测试理论和项目反应理论（IRT）进行了多阶段心理测量校准和验证，并进行了事后模拟研究，以评估计算机自适应测试（CAT）实施的适用性。
基于探索性因素分析，我们从 30 项草案中删除了 4 项。由此产生的 26 项 GKnowM 措施具有单一的主导因素。该量表的内部一致性为α=0.85，IRT 3-PL 模型表现出良好的整体和项目拟合。有效性通过与现有基因组知识量表的显著相关性（r=0.61）和具有足够健康素养和医疗保健提供者（HCPs）的个体（包括与基因组测试合作的 HCPs）的显著较高分数得到证明。项目库非常适合 CAT，在管理平均 13.5 个项目的同时实现了高准确性（r=0.97 与完整量表）。
GKnowM 是一种经过更新、广泛相关、经过严格验证的 26 项基因组知识衡量标准，我们预计它将有助于评估人口基因组素养和评估基因组教育干预措施的有效性。
