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公平竞争:为遗传咨询学员开发关于分子检测和变异解读的异步互动模块系列

Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation.

作者信息

Reichert Sara L, Dechene Elizabeth, Lulis Lauren, Valverde Kathleen, Conway Laura, Dulik Matthew

机构信息

Department of Pathology, Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Master of Science in Genetic Counseling Program, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

出版信息

J Genet Couns. 2024 Feb;33(1):151-155. doi: 10.1002/jgc4.1853. Epub 2024 Jan 10.

Abstract

The need for education focusing on genomic technologies and variant interpretation for genetic counseling trainees has prompted genetic counseling training programs to alter their curricula to incorporate this content. Given students' diverse experiences prior to matriculation into genetic counseling training programs, students' familiarity with these topics may vary. Following receipt of feedback from trainees at a large genetic counseling program regarding an existing course focused on molecular technologies, a three-part asynchronous module series was created as a prerequisite to this course as an opportunity to align knowledge. Designed to be completed by students on their own time and at their own pace, the modules allowed for additional instruction without increases in classroom time or credit hours. Content included a refresh on genetics concepts and an introduction to available genetics resources for developing a differential diagnosis as well as variant interpretation framework. Modules utilized a clinical scenario to anchor learning with interactive content, allowing students to progress at their own pace and explore content as they found necessary. Completion of this asynchronous module series was required by incoming first-year students prior to the start of the academic semester. Following completion, students were asked to provide feedback on the module series. Reviews were primarily positive with students indicating that while the content was not entirely new, they found the review valuable and would be likely to reference the modules later in their genetic counseling training. Areas identified for improvement included additional detail regarding genetic testing methods as well as adjusting the interactive content to ensure accessibility for all students and systems. Taken together, the development and implementation of this asynchronous series as an additional component to genetic counseling training was considered a success and this approach can be considered to address additional topics dependent on a programs' needs.

摘要

对基因咨询学员进行聚焦基因组技术和变异解读的教育需求,促使基因咨询培训项目改变其课程设置以纳入这些内容。鉴于学生在进入基因咨询培训项目之前有不同的经历,他们对这些主题的熟悉程度可能会有所不同。在收到一个大型基因咨询项目的学员对一门现有的专注于分子技术的课程的反馈后,创建了一个三部分的异步模块系列,作为该课程的先决条件,以提供一个知识校准的机会。这些模块旨在让学生按照自己的时间和节奏完成,在不增加课堂时间或学分的情况下提供额外的指导。内容包括对遗传学概念的复习,以及介绍用于进行鉴别诊断和变异解读框架的可用遗传学资源。模块利用一个临床案例来支撑学习,并配有互动内容,让学生按照自己的节奏前进,并在必要时探索相关内容。即将入学的一年级学生在学术学期开始前必须完成这个异步模块系列。完成后,要求学生对该模块系列提供反馈。评价主要是积极的,学生们表示虽然内容并非全新,但他们认为复习很有价值,并且可能会在后续的基因咨询培训中参考这些模块。有待改进的方面包括关于基因检测方法的更多细节,以及调整互动内容以确保所有学生和系统都能访问。总体而言,将这个异步系列作为基因咨询培训的一个额外组成部分进行开发和实施被认为是成功的,这种方法可以被视为根据项目需求来解决其他主题。

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