Abstract：
The ability to identify individuals in the prodromal phase of Parkinson\'s disease has improved in recent years, raising the question of whether and how those affected should be informed about the risk of future disease. Several studies investigated prognostic counselling for individuals with isolated REM sleep behavior disorder and have shown that most patients want to receive information about prognosis, but autonomy and individual preferences must be respected. However, there are still many unanswered questions about risk disclosure or early diagnosis of PD, including the impact on personal circumstances, cultural preferences and specific challenges associated with different profiles of prodromal symptoms, genetic testing or biomarker assessments. This narrative review aims to summarize the current literature on prognostic counselling and risk disclosure in PD, as well as highlight future perspectives that may emerge with the development of new biomarkers and their anticipated impact on the definition of PD.
An important goal of Parkinson’s disease research is to diagnose the disease at an earlier stage, even before the typical motor symptoms appear, in the so-called ‘prodromal phase’. Currently, there are no treatments available that can slow down or prevent disease progression in this early phase, even though many of the early symptoms are treatable. This raises ethical questions about whether people want to know their future risk of Parkinson’s and, if so, how this information should be given. This article summarizes the current state of knowledge, but also open questions about risk disclosure in the prodromal phase of Parkinson’s. Previous studies have shown that many people with early symptoms of Parkinson’s would like to know their risk, but that the individual’s wish to know (or not to know) must first be ascertained and respected. Future studies need to find out whether very early diagnosis of Parkinson’s might have an impact on people affected, for example in terms of psychological stress or anxiety, and whether cultural background might influence attitudes to risk disclosure. Furthermore, it is expected that in the future it will be possible to make an early diagnosis of Parkinson’s using specific new techniques, e.g., by testing spinal fluid. It is of utmost importance to find out if and how test results of these new techniques should be communicated to patients, even if they do not lead to direct medical treatment.
An important goal of Parkinson’s disease research is to diagnose the disease at an earlier stage, even before the typical motor symptoms appear, in the so-called ‘prodromal phase’. Currently, there are no treatments available that can slow down or prevent disease progression in this early phase, even though many of the early symptoms are treatable. This raises ethical questions about whether people want to know their future risk of Parkinson’s and, if so, how this information should be given. This article summarizes the current state of knowledge, but also open questions about risk disclosure in the prodromal phase of Parkinson’s. Previous studies have shown that many people with early symptoms of Parkinson’s would like to know their risk, but that the individual’s wish to know (or not to know) must first be ascertained and respected. Future studies need to find out whether very early diagnosis of Parkinson’s might have an impact on people affected, for example in terms of psychological stress or anxiety, and whether cultural background might influence attitudes to risk disclosure. Furthermore, it is expected that in the future it will be possible to make an early diagnosis of Parkinson’s using specific new techniques, e.g., by testing spinal fluid. It is of utmost importance to find out if and how test results of these new techniques should be communicated to patients, even if they do not lead to direct medical treatment.
摘要：
近年来，在帕金森病前驱阶段识别个体的能力有所提高，提出了一个问题，即是否以及如何向受影响的人通报未来疾病的风险。几项研究调查了患有孤立性REM睡眠行为障碍的个体的预后咨询，并表明大多数患者希望获得有关预后的信息。但是必须尊重自主权和个人偏好。然而,关于PD的风险披露或早期诊断仍有许多悬而未决的问题，包括对个人情况的影响，文化偏好和与前驱症状的不同特征相关的具体挑战，基因测试或生物标志物评估。这篇叙述性综述旨在总结目前有关PD预后咨询和风险披露的文献，以及强调随着新生物标志物的开发可能出现的未来观点及其对PD定义的预期影响。
帕金森病研究的一个重要目标是在早期诊断疾病，甚至在典型的运动症状出现之前，在所谓的“前驱阶段”。目前,在这个早期阶段，没有可用的治疗方法可以减缓或预防疾病的进展，尽管许多早期症状是可以治疗的。这引发了道德问题，即人们是否想知道他们未来患帕金森病的风险，如果是,如何提供这些信息。本文总结了当前的知识状态，但也公开了有关帕金森病前驱阶段风险披露的问题。以前的研究表明，许多有帕金森病早期症状的人都想知道他们的风险，但是，必须首先确定和尊重个人想要知道（或不知道）的愿望。未来的研究需要找出帕金森病的早期诊断是否会对患者产生影响。例如在心理压力或焦虑方面，以及文化背景是否会影响对风险披露的态度。此外，预计未来将有可能使用特定的新技术对帕金森病进行早期诊断，例如，通过测试脊髓液。最重要的是找出这些新技术的测试结果是否以及如何传达给患者，即使它们不会导致直接的医疗。
帕金森病研究的一个重要目标是在早期诊断疾病，甚至在典型的运动症状出现之前，在所谓的“前驱阶段”。目前,在这个早期阶段，没有可用的治疗方法可以减缓或预防疾病的进展，尽管许多早期症状是可以治疗的。这引发了道德问题，即人们是否想知道他们未来患帕金森病的风险，如果是,如何提供这些信息。本文总结了当前的知识状态，但也公开了有关帕金森病前驱阶段风险披露的问题。以前的研究表明，许多有帕金森病早期症状的人都想知道他们的风险，但是，必须首先确定和尊重个人想要知道（或不知道）的愿望。未来的研究需要找出帕金森病的早期诊断是否会对患者产生影响。例如在心理压力或焦虑方面，以及文化背景是否会影响对风险披露的态度。此外，预计未来将有可能使用特定的新技术对帕金森病进行早期诊断，例如，通过测试脊髓液。最重要的是找出这些新技术的测试结果是否以及如何传达给患者，即使它们不会导致直接的医疗。
