Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA ; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA.
Genome Med. 2013 Dec 30;5(12):113. doi: 10.1186/gm518. eCollection 2013.
Multiple laboratories now offer clinical whole genome sequencing (WGS). We anticipate WGS becoming routinely used in research and clinical practice. Many institutions are exploring how best to educate geneticists and other professionals about WGS. Providing students in WGS courses with the option to analyze their own genome sequence is one strategy that might enhance students' engagement and motivation to learn about personal genomics. However, if this option is presented to students, it is vital they make informed decisions, do not feel pressured into analyzing their own genomes by their course directors or peers, and feel free to analyze a third-party genome if they prefer. We therefore developed a 26-hour introductory genomics course in part to help students make informed decisions about whether to receive personal WGS data in a subsequent advanced genomics course. In the advanced course, they had the option to receive their own personal genome data, or an anonymous genome, at no financial cost to them. Our primary aims were to examine whether students made informed decisions regarding analyzing their personal genomes, and whether there was evidence that the introductory course enabled the students to make a more informed decision.
This was a longitudinal cohort study in which students (N = 19) completed questionnaires assessing their intentions, informed decision-making, attitudes and knowledge before (T1) and after (T2) the introductory course, and before the advanced course (T3). Informed decision-making was assessed using the Decisional Conflict Scale.
At the start of the introductory course (T1), most (17/19) students intended to receive their personal WGS data in the subsequent course, but many expressed conflict around this decision. Decisional conflict decreased after the introductory course (T2) indicating there was an increase in informed decision-making, and did not change before the advanced course (T3). This suggests that it was the introductory course content rather than simply time passing that had the effect. In the advanced course, all (19/19) students opted to receive their personal WGS data. No changes in technical knowledge of genomics were observed. Overall attitudes towards WGS were broadly positive.
Providing students with intensive introductory education about WGS may help them make informed decisions about whether or not to work with their personal WGS data in an educational setting.
现在有多个实验室提供临床全基因组测序（WGS）服务。我们预计 WGS 将在研究和临床实践中得到常规应用。许多机构都在探索如何最好地教育遗传学家和其他专业人员了解 WGS。为 WGS 课程的学生提供分析自己基因组序列的选择可能是一种增强学生学习个人基因组学的参与度和积极性的策略。然而，如果向学生提供此选项，至关重要的是，他们需要做出明智的决策，不会因课程负责人或同学的压力而分析自己的基因组，并且如果他们愿意，也可以自由地分析第三方基因组。因此，我们开发了一门 26 小时的入门基因组学课程，部分目的是帮助学生在后续的高级基因组学课程中就是否接收个人 WGS 数据做出明智的决定。在高级课程中，他们可以选择免费接收自己的个人基因组数据或匿名基因组数据。我们的主要目的是检查学生是否就分析自己的基因组做出了明智的决定，以及是否有证据表明入门课程使学生能够做出更明智的决定。
这是一项纵向队列研究，其中学生（N=19）在完成了评估他们的意向、知情决策、态度和知识的问卷后，分别在入门课程之前（T1）、之后（T2）和高级课程之前（T3）进行了评估。知情决策使用决策冲突量表进行评估。
在入门课程开始时（T1），大多数（17/19）学生打算在后续课程中接收自己的个人 WGS 数据，但许多人对此决定表示存在冲突。入门课程结束后（T2），决策冲突减少，表明知情决策有所增加，而在高级课程之前（T3）并未发生变化。这表明是入门课程的内容而不是仅仅随着时间的推移产生了影响。在高级课程中，所有（19/19）学生都选择接收自己的个人 WGS 数据。没有观察到基因组学技术知识的变化。总体而言，对 WGS 的态度普遍较为积极。
为学生提供关于 WGS 的强化入门教育可能有助于他们在教育环境中就是否使用自己的个人 WGS 数据做出明智的决策。
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