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Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR).
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-05-26 , DOI: 10.1038/s41431-020-0657-1
Gail E Henderson 1 , Molly Ewing 1 , Kristine J Kuczynski 1 , R Jean Cadigan 1 , Margaret Waltz 1 , Rita M Butterfield 2 , Christine Rini 3 , Karen Weck 1 , Jonathan S Berg 1 , Teresa P Edwards 1
Affiliation  

To realize the promise of population genomic screening for rare medically actionable conditions, critical challenges in the return of normal/negative results must be understood and overcome. Our study objective was to assess the functioning of a new 13-item measure (CoG-NR) of understanding of and knowledge about normal/negative genomic screening results for three highly actionable conditions: Lynch Syndrome, Hereditary Breast and Ovarian Cancer, and Familial Hypercholesterolemia. Based on our prior research and expert review, we developed CoG-NR and tested how well it functioned using hypothetical scenarios in three Qualtrics surveys. We report on its psychometric properties and performance across the three different conditions. The measure performed similarly for the three conditions. Examinations of item difficulty, internal reliability, and differential item functioning indicate that the items perform well, with statistically significant positive correlations with genomic knowledge, health literacy, and objective numeracy. CoG-NR assesses understanding of normal/negative results for each of the conditions. The next step is to examine its performance among individuals who have actually undergone such tests, and subsequent use in clinical or research situations. The CoG-NR measure holds great promise as a tool to enhance benefits of population genomic screening by bringing to light the prevalence of incorrect interpretation of negative results.



中文翻译:

开发和验证一种理解基因组筛查阴性结果的方法(CoG-NR)。

为了实现对人群基因组学进行罕见的医学治疗条件的承诺,必须理解和克服在恢复正常/阴性结果方面的关键挑战。我们的研究目标是评估对以下三种高度可行的疾病:林奇综合征,遗传性乳腺癌和卵巢癌以及家族性高胆固醇血症的正常/阴性基因组筛查结果的了解和知识的新的13项指标(CoG-NR)的功能。基于我们先前的研究和专家评审,我们开发了CoG-NR,并在三个Qualtrics调查中使用假设情景测试了CoG-NR的功能。我们报告了它在三种不同情况下的心理测量特性和性能。对于这三个条件,该度量的执行方式相似。检查项目难度,内部可靠性,以及项目功能的差异表明项目执行良好,与基因组知识,健康素养和客观计算能力在统计学上呈显着正相关。CoG-NR评估每种情况对正常/阴性结果的理解。下一步是检查实际接受过此类测试的人员的性能,以及随后在临床或研究情况下的使用情况。CoG-NR措施作为一种工具,通过揭露对阴性结果的不正确解释的普遍性,有望作为增强人群基因组学筛查的工具。CoG-NR评估每种情况对正常/阴性结果的理解。下一步是检查实际接受过此类测试的人员的性能,以及随后在临床或研究情况下的使用情况。CoG-NR措施作为一种工具,通过揭露对阴性结果的不正确解释的普遍性,有望作为增强人群基因组学筛查的工具。CoG-NR评估每种情况对正常/阴性结果的理解。下一步是检查实际接受过此类测试的人员的性能,以及随后在临床或研究情况下的使用情况。CoG-NR措施作为一种工具,可通过揭露对阴性结果的错误解释的普遍性来增强人群基因组筛查的好处,因此具有很大的前景。

更新日期:2020-05-26
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