Genetic testing for Parkinson's disease (PD) is growing as interventional clinical trials begin to enroll participants with PD who carry pathogenic variants in the LRRK2 or GBA genes. However, the impact of receiving genetic test results and the satisfaction with receiving genetic counseling among PD populations have not yet been studied. The purpose of this study was to evaluate (1) the psychological impact of genetic testing for PD and (2) satisfaction with genetic counseling. Surveyed participants (N = 875) were individuals with PD or at risk of developing PD, initially recruited for the Parkinson's Progression Marker Initiative (PPMI) study and currently enrolled in the Widespread Recruitment Initiative (WRI) at Indiana University. Individuals were surveyed following genetic test disclosure and genetic counseling regarding results from targeted testing for pathogenic variants in the LRRK2 and GBA genes. Participants were surveyed via two tools: a modified version of the Multidimensional Impact of Cancer Risk Assessment Survey (M-MICRA), which measured the psychological impact of genetic testing and the Genetic Counseling Satisfaction Survey (GCSS). Participants were divided into affected/unaffected and variant positive/negative groups for subset analyses. The majority of participants had favorable M-MICRA scores and were satisfied with the disclosure of the genetic test results and genetic counseling for PD. However, participants with PD and those with pathogenic variants had less favorable M-MICRA scores and lower satisfaction scores compared to those without disease or pathogenic variants. This information is valuable to providers performing genetic testing of and genetic counseling to people and families affected with PD. Individuals with PD and individuals with pathogenic variants may benefit from additional interventions.

中文翻译：

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一项大型帕金森病研究中基因检测披露和遗传咨询的结果

随着介入性临床试验开始招募携带LRRK2或GBA基因致病变异的 PD 参与者，帕金森病 (PD) 的基因检测正在增长。然而，尚未研究接受基因检测结果的影响以及对 PD 人群接受遗传咨询的满意度。本研究的目的是评估 (1) PD 基因检测的心理影响和 (2) 对遗传咨询的满意度。被调查者（N = 875) 是患有 PD 或有发展为 PD 风险的个体，最初是为帕金森病进展标志物倡议 (PPMI) 研究招募的，目前在印第安纳大学参加了广泛招募倡议 (WRI)。在基因检测披露和遗传咨询后对个体进行调查，了解LRRK2和GBA 中致病变异的靶向检测结果基因。通过两种工具对参与者进行调查：癌症风险评估调查的多维影响 (M-MICRA) 的修改版本，该调查衡量基因检测的心理影响和遗传咨询满意度调查 (GCSS)。参与者被分为受影响/未受影响和变异阳性/阴性组进行子集分析。大多数参与者具有良好的 M-MICRA 评分，并对 PD 的基因检测结果和遗传咨询的披露感到满意。然而，与没有疾病或致病变异的参与者相比，患有 PD 和携带致病变异的参与者的 M-MICRA 分数和满意度得分较低。这些信息对于对受 PD 影响的人和家庭进行基因检测和遗传咨询的提供者很有价值。