协调帕金森病遗传检测:PARKNET多中心研究的结果
Alessio Di Fonzo1,2, Marco Percetti1,3,4, Edoardo Monfrini1,2
1Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Movement disorders : official journal of the Movement Disorder Society
|September 26, 2023
概括
使用下一代测序 (NGS) 面板进行早期发病的帕金森病 (EOPD) 遗传测试带来了解释挑战. 协调报告对于准确的基因诊断和EOPD患者咨询至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 医学诊断 医学诊断 医学诊断
背景情况:
- 早期发病的帕金森病 (EOPD) 通常具有遗传原因,需要进行诊断基因检测.
- 与帕金森病 (PD) 相关的多基因面板的下一代测序 (NGS) 通常用于EOPD诊断.
- 在诊断环境中解释NGS结果带来了挑战,之前对此问题的研究有限.
研究的目的:
- 评估NGS基基因检测早期发病帕金森病的诊断产量和解释一致性.
- 在多个诊断实验室中识别PD相关多基因面板中报告和解释遗传变异的挑战.
- 评估变异重新分类对EOPD患者诊断结果的影响.
主要方法:
- 来自意大利八个实验室的648名EOPD患者 (发病年龄<55岁) 的回顾性分析,使用共享的15基因NGS小组.
- 包括临床数据,诊断报告和变体解释.
- 根据最新的美国医学遗传学和基因组学学院的标准重新分类所有已识别的变异,将GBA1变异视为诊断.
主要成果:
- 在29% (186/648) 的患者中报告了诊断变异,16% (105/648) 的患者诊断为阳性 (105/648).
- 在最初报告的病例中,重新分析改变了10% (18/186) 的诊断,其中5例从不确定的转变为阳性.
- 在15% (97/648) 的患者中,主要是由于GBA1或PRKN变异而达到确定的遗传诊断;14% (89/648) 的报告是不确定的.
结论:
- 基于NGS的EOPD多基因面板测试在诊断实验室中面临着重大解释挑战.
- 协调报告标准对于提高EOPD中基因测试的准确性和可靠性至关重要.
- 这些发现对EOPD患者的遗传咨询和临床管理具有重要意义.
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