Menke Chelsea, Nagaraj Chinmayee B, Dawson Brian, He Hua, Tawde Sanjukta, Wakefield Emily G
Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Genetic Services Laboratory, University of Chicago, Chicago, IL, USA.
J Genet Couns. 2021 Dec;30(6):1559-1569. doi: 10.1002/jgc4.1422. Epub 2021 May 9.
The advancement of genetic testing technologies has allowed for better diagnosis and management of patients, but also results in more variants of uncertain significance (VUSs) due to the increased number of genes being analyzed. There are more genetic tests available and more providers who do not specialize in genetics ordering genetic testing, but few studies examining how providers who do not specialize in genetics interpret VUSs. This study surveyed pediatric providers at a midwestern pediatric care center who do not specialize in genetics about their understanding of a mock genetic test report with a VUS result and whether their understanding of the result was associated with experience ordering genetic tests. Participants' preferences about content of the report and steps taken to understand the result were also examined. Of the 51 participants, 33% correctly answered both knowledge questions about the VUS result: one asking them to interpret the result and one asking them how they would explain the result to the patient. There was no association between answering both knowledge questions correctly and types of previous genetic tests ordered (p > .1 for 8 types of genetic tests), having received a genetic test report with a VUS result (p = .58), having referred patients to a genetics professional (p = .74), or feeling comfortable discussing a positive, negative, or VUS genetic test result (p > .4). This suggests that having previous experience ordering genetic tests does not contribute to the participants' knowledge about a variant of uncertain significance. Most participants reported that the amount of information in each section of the mock report was adequate. Participants were likely to reference multiple resources to better understand a VUS result, including published literature (82%), gene-specific databases (67%), and colleagues (63%). While these results cannot be generalized to all institutions, institutions can use the two knowledge questions to determine participants' understanding of genetic test results. This will help healthcare institutions determine methods that will best aide their providers who order genetic testing but do not specialize in genetics in learning more about the genetic testing process and better utilize results to improve patient care.
基因检测技术的进步有助于对患者进行更好的诊断和管理，但由于分析的基因数量增加，也导致了更多意义未明的变异（VUS）。现在有更多的基因检测可供选择，而且更多非遗传学专业的医疗服务提供者也在开具基因检测医嘱，但很少有研究探讨这些非遗传学专业的医疗服务提供者如何解读VUS。本研究调查了中西部一家儿科护理中心的非遗传学专业儿科医疗服务提供者，了解他们对一份带有VUS结果的模拟基因检测报告的理解，以及他们对结果的理解是否与开具基因检测医嘱的经验有关。还考察了参与者对报告内容的偏好以及为理解结果所采取的步骤。在51名参与者中，33%正确回答了关于VUS结果的两个知识问题：一个要求他们解读结果，另一个要求他们说明如何向患者解释结果。正确回答这两个知识问题与之前开具的基因检测类型（8种基因检测的p值均＞0.1）、收到过带有VUS结果的基因检测报告（p = 0.58）、将患者转诊给遗传学专业人员（p = 0.74）或对讨论阳性、阴性或VUS基因检测结果感到自在（p＞0.4）之间均无关联。这表明，之前开具基因检测医嘱的经验并未有助于参与者了解意义未明的变异。大多数参与者报告说，模拟报告各部分的信息量是足够的。参与者可能会参考多种资源来更好地理解VUS结果，包括已发表的文献（82%）、基因特异性数据库（67%）和同事（63%）。虽然这些结果不能推广到所有机构，但各机构可以利用这两个知识问题来确定参与者对基因检测结果的理解。这将有助于医疗机构确定最能帮助其开具基因检测医嘱但非遗传学专业的医疗服务提供者更多了解基因检测过程并更好利用检测结果以改善患者护理的方法。
