Translational Neurogenomics Group, Neurology Department & Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.
Concord Clinical School, Sydney Medical School, Faculty of Health & Medicine, University of Sydney, Concord, NSW, Australia.
Tremor Other Hyperkinet Mov (N Y). 2024 Jan 8;14:2. doi: 10.5334/tohm.835. eCollection 2024.
Currently, pathogenic variants in more than 500 different genes are known to cause various movement disorders. The increasing accessibility and reducing cost of genetic testing has resulted in increasing clinical use of genetic testing for the diagnosis of movement disorders. However, the optimal use case(s) for genetic testing at a patient level remain ill-defined. Here, we review the utility of genetic testing in patients with movement disorders and also highlight current challenges and limitations that need to be considered when making decisions about genetic testing in clinical practice.
The utility of genetic testing extends across multiple clinical and non-clinical domains. Here we review different aspects of the utility of genetic testing for movement disorders and the numerous associated challenges and limitations. These factors should be weighed on a case-by-case basis when requesting genetic tests in clinical practice.
目前，已知超过 500 种不同基因的致病变异可导致各种运动障碍。遗传检测的可及性增加和成本降低导致遗传检测在运动障碍的诊断中越来越多地被临床应用。然而，在患者层面上，遗传检测的最佳应用（用例）仍然定义不明确。在这里，我们回顾了遗传检测在运动障碍患者中的效用，并强调了在临床实践中做出遗传检测决策时需要考虑的当前挑战和局限性。
遗传检测的效用涵盖多个临床和非临床领域。在这里，我们回顾了遗传检测在运动障碍中的不同效用方面，以及许多相关的挑战和局限性。在临床实践中请求进行基因检测时，应根据具体情况权衡这些因素。
