Purpose of Review

To describe current practices and attitudes about genetic testing for Parkinson’s disease (PD) among neurologists, highlight the changing scene of genetic testing for PD, and provide guidance on facilitating PD genetic testing in a clinical practice.

Recent Findings

Since the 1990s, researchers have discovered several major gene variants contributing to PD etiology. A large body of literature now exists supporting the frequency of these variants in different populations and their effects on phenotype and clinical course. Recently, clinical trials have emerged with therapies targeting genetic forms of PD, specifically LRRK2 and GBA. Despite this growing knowledge, genetic testing for PD is not typically offered by neurologists including movement disorder specialists. Neurologists express concerns about the financial and practical issues of genetic testing as well as the potential impact on their patients. Researchers and specialists in the field are questioning this hesitation as clinical utility and consumer demand increase.

Summary

Consideration of genetic testing for PD is shifting, as we enter a new era of precision medicine and gain clinical knowledge about PD. Barriers to testing, as perceived by clinicians, can be overcome with education, support, and involvement of multiple stakeholders with the goal of making PD genetic testing accessible to all patients.

中文翻译：

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基因测试在帕金森氏病中的作用

审查目的

要描述神经科医生对帕金森氏病（PD）进行基因检测的当前做法和态度，突出显示帕金森氏症基因检测的变化场景，并为在临床实践中促进帕金森氏症基因检测提供指导。

最近的发现

自1990年代以来，研究人员发现了导致PD病因的几种主要基因变异。现在有大量文献支持这些变异在不同人群中的发生频率及其对表型和临床过程的影响。最近，针对PD的遗传形式，特别是LRRK2和GBA的疗法已经出现了临床试验。尽管掌握了越来越多的知识，但包括运动障碍专家在内的神经科医师通常不提供PD的基因检测。神经科医生对基因检测的财务和实际问题以及对患者的潜在影响表示担忧。随着临床效用和消费者需求的增加，该领域的研究人员和专家质疑这种犹豫。

概括

随着我们进入精密医学的新时代并获得有关PD的临床知识，PD的基因检测的考虑正在发生变化。临床医生认为，测试的障碍可以通过教育，支持和多方利益相关者的参与来克服，其目标是使所有患者都能进行PD基因测试。