Beelen Nina J, Vohra Jitendra, Verdonschot Job A J
Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, the Netherlands.
The Royal Melbourne Hospital, Parkville, Victoria, Australia.
Indian Pacing Electrophysiol J. 2025 May-Jun;25(3):177-184. doi: 10.1016/j.ipej.2025.05.002. Epub 2025 May 27.
Genetic counselling and testing is a fast growing field in modern medicine. Genetic analysis can aid in the diagnosis, treatment, management and prevention of (genetic) diseases in patients. This review provides an overview of the fundamental principles of genetics from a clinical perspective, focusing on the practical application and interpretation of genetic testing. Key concepts, including genetic expression and inheritance patterns, are discussed to give a better understanding of the subject. There is a large variety of genetic testing methodologies, from single gene testing to whole genome sequencing (WGS) that have their respective advantages, disadvantages and clinical implications. Interpretation of genetic results is performed on different levels: from the molecular level (variant interpretation and classification) to the clinical level (association of genetic variants with disease and phenotype). The correct interpretation of the results is essential to use genetics for clinical decision making. Challenges in the field include, but are not limited to, variants of unknown significance, incidental findings, and the familial forms of disease that remain gene-elusive with the current technologies. Pre- and post-test genetic counselling is essential to ensure that patients and their family members are aware of the options and implications of genetic testing, which will significantly benefit patients with coping. This review is based on the latest European and American guidelines, to give an up-to-date overview of rapid advancements of genetic testing and counselling. A dedicated follow-up article in this series will explore the Indian perspective in greater depth.
遗传咨询与检测是现代医学中一个快速发展的领域。基因分析有助于对患者（遗传性）疾病进行诊断、治疗、管理和预防。本综述从临床角度概述遗传学的基本原理，重点关注基因检测的实际应用和解读。文中讨论了包括基因表达和遗传模式在内的关键概念，以便更好地理解这一主题。基因检测方法多种多样，从单基因检测到全基因组测序（WGS），每种方法都有其各自的优缺点和临床意义。基因检测结果的解读在不同层面进行：从分子层面（变异解读和分类）到临床层面（基因变异与疾病和表型的关联）。正确解读结果对于将遗传学应用于临床决策至关重要。该领域面临的挑战包括但不限于意义未明的变异、偶发发现以及目前技术仍难以确定基因的家族性疾病形式。检测前和检测后的遗传咨询对于确保患者及其家庭成员了解基因检测的选择和影响至关重要，这将极大地帮助患者应对。本综述基于最新的欧美指南，对基因检测和咨询的快速进展进行最新概述。本系列的一篇专门的后续文章将更深入地探讨印度的情况。
