Background: 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. Methods: 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. Results: 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. Conclusion: 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.
Public Health Genomics

中文翻译：

---

综合基因组知识量表的开发和验证


背景：基因组测试越来越多地应用于临床、研究、教育和商业环境。基因组素养是有效应用基因组测试的先决条件，因此需要经过验证的工具来评估基因组学知识。我们寻求开发一种可靠的基因组学知识衡量方法，该方法结合了现代基因组技术，并且为具有不同背景的个人（包括接受过临床/生命科学培训的个人）提供了丰富的信息。方法：我们开发了 GKnowM 基因组学知识量表，以评估做出基因组测试明智决策、适当应用基因组技术和参与公民决策所需的知识。我们对校准队列 ( n = 1,234) 和后续参与者进行了 30 项草案测量，以创建组合验证队列 ( n = 2,405)。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。结果：根据探索性因素分析，我们删除了 30 个草案项目中的 4 个。由此产生的 26 项 GKnowM 测量有一个主导因素。量表内部一致性α = 0.85，IRT 3-PL模型表现出良好的整体和项目拟合度。有效性与现有的基因组学知识测量显着相关（ r = 0.61），并且对于具有足够健康素养的个人和医疗保健提供者（HCP）（包括从事基因组测试的 HCP）而言，得分显着更高。 该项目库非常适合 CAT，在平均管理 13.5 个项目的同时实现了高精度（满量度时r = 0.97）。结论： GKnowM 是一种更新的、广泛相关的、经过严格验证的 26 项测量方法，用于评估基因组学知识，我们预计它将有助于评估人群基因组素养和评估基因组学教育干预的有效性。
 公共卫生基因组学