帕金森病的基因检测：我们准备好了吗？
Genetic Testing for Parkinson Disease: Are We Ready?
作者信息
Cook Lola, Schulze Jeanine, Kopil Catherine, Hastings Tara, Naito Anna, Wojcieszek Joanne, Payne Katelyn, Alcalay Roy N, Klein Christine, Saunders-Pullman Rachel, Simuni Tatyana, Foroud Tatiana
机构信息
Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.
出版信息
Neurol Clin Pract. 2021 Feb;11(1):69-77. doi: 10.1212/CPJ.0000000000000831.
PURPOSE OF REVIEW
With the advent of precision medicine and demand for genomic testing information, we may question whether it is time to offer genetic testing to our patients with Parkinson disease (PD). This review updates the current genetic landscape of PD, describes what genetic testing may offer, provides strategies for evaluating whom to test, and provides resources for the busy clinician.
RECENT FINDINGS
Patients with PD and their relatives, in various settings, have expressed an interest in learning their PD genetic status; however, physicians may be hesitant to widely offer testing due to the perceived low clinical utility of PD genetic test results. The rise of clinical trials available for patients with gene-specific PD and emerging information on genotype-phenotype correlations are starting to shift this discussion about testing.
SUMMARY
By learning more about the various genetic testing options for PD and utility of results for patients and their care, clinicians may become more comfortable with widespread PD genetic testing in the research and clinical setting.
综述目的
随着精准医学的出现以及对基因检测信息的需求，我们可能会质疑是否到了为帕金森病（PD）患者提供基因检测的时候。本综述更新了PD当前的基因概况，描述了基因检测可能带来的益处，提供了评估检测对象的策略，并为忙碌的临床医生提供了相关资源。
最新发现
在各种情况下，PD患者及其亲属都表达了了解自身PD基因状态的意愿；然而，由于认为PD基因检测结果的临床实用性较低，医生可能会犹豫是否广泛提供检测。针对特定基因的PD患者的临床试验的增加以及关于基因型 - 表型相关性的新信息开始改变关于检测的讨论。
总结
通过更多地了解PD的各种基因检测选项以及检测结果对患者及其治疗的实用性，临床医生在研究和临床环境中对广泛开展PD基因检测可能会更加放心。
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