Department of Medical and Molecular Genetics/Hereditary Genomics Division, Indiana University School of Medicine, 410 West 10th Street, Indianapolis, IN, 46202-3002, USA.
Parkinson's Foundation, Miami, FL, USA.
Curr Neurol Neurosci Rep. 2021 Mar 8;21(4):17. doi: 10.1007/s11910-021-01100-7.
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.
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. 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.
描述目前神经病学家在帕金森病（PD）基因检测方面的实践和态度，强调 PD 基因检测不断变化的局面，并为促进临床实践中的 PD 基因检测提供指导。
自 20 世纪 90 年代以来，研究人员已经发现了几个导致 PD 发病机制的主要基因变异。现在有大量的文献支持这些变异在不同人群中的频率及其对表型和临床过程的影响。最近，出现了一些针对 PD 遗传形式的临床试验，特别是 LRRK2 和 GBA。尽管这方面的知识不断增加，但包括运动障碍专家在内的神经病学家通常不提供 PD 基因检测。神经病学家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。该领域的研究人员和专家对这种犹豫提出质疑，因为临床实用性和消费者需求正在增加。随着我们进入精准医学的新时代，并获得有关 PD 的临床知识，对 PD 基因检测的考虑正在发生变化。可以通过教育、支持以及多个利益相关者的参与来克服临床医生所认为的检测障碍，以实现向所有患者提供 PD 基因检测的目标。
