Newey Paul J
Division of Molecular and Clinical Medicine, Ninewells Hospital & Medical School, University of Dundee, Dundee, Scotland, UK.
Clin Endocrinol (Oxf). 2022 Oct;97(4):400-408. doi: 10.1111/cen.14818. Epub 2022 Sep 5.
Establishing a genetic diagnosis may lead to major health benefits for the patient and their wider family, but is dependent on the accurate interpretation of test results. The processes of variant interpretation are by their nature imprecise such that the potential for uncertain test results (i.e., variant(s) of uncertain significance [VUS]) are an inevitable consequence of genomic testing. With an increased responsibility for diagnostic testing in the hands of the specialty physician (e.g., endocrinologist) rather than clinical geneticist, it is essential that they are familiar with the possible outcomes of testing including an understanding of the VUS category. While uncertainty is endemic to many aspects of clinical medicine, receiving a VUS result may pose a considerable challenge to both the clinician and the patient. In this article, a framework to support decision-making when confronted with a VUS variant is provided, focusing on the key components of the genetic testing pathway. This highlights the importance of assessing the VUS result in the context of the clinical presentation and genetic testing strategy, the value of multidisciplinary team working and ensuring good communication with the patient.
建立基因诊断可能会给患者及其更广泛的家族带来重大的健康益处，但这取决于对检测结果的准确解读。变异解读过程本质上是不精确的，因此不确定检测结果（即意义未明的变异 [VUS]）的可能性是基因检测不可避免的结果。随着专科医生（如内分泌学家）而非临床遗传学家承担起更多诊断检测的责任，他们必须熟悉检测可能产生的结果，包括对VUS类别的理解。虽然不确定性在临床医学的许多方面都很常见，但收到VUS结果可能会给临床医生和患者都带来相当大的挑战。本文提供了一个在面对VUS变异时支持决策的框架，重点关注基因检测流程的关键组成部分。这凸显了在临床表现和基因检测策略的背景下评估VUS结果的重要性、多学科团队合作的价值以及确保与患者进行良好沟通的重要性。
