在帕金森病中进行基因检测
Gian Pal1, Lola Cook2, Jeanine Schulze2
1Department of Neurology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
概括
对帕金森病 (PD) 的基因测试正在扩大,但缺乏明确的指导方针. 需要进行研究,以解决关键的差距和争议,以制定适当的测试和咨询策略.
科学领域:
- 神经遗传学 神经遗传学
- 临床遗传学 临床遗传学
- 帕金森病研究 帕金森病研究
背景情况:
- 对帕金森病 (PD) 的基因测试在临床,研究和直接向消费者销售平台上越来越普遍.
- 尽管在测试方法和可访问性方面取得了进展,但由于没有经过验证的基因向疗法,临床实用性受到限制,尽管临床试验正在进行中.
研究的目的:
- 识别和分析帕金森病遗传检测中的关键差距和争议.
- 为制定基因测试和PD咨询所需的指导方针提供信息.
主要方法:
- 对最近的科学文献进行了全面的审查.
- 确定并分析了围绕PD遗传测试的关键差距和争议.
主要成果:
- 发现了一些关键的缺陷和争议,包括没有立即医疗可行的测试的适当性,测试中的种族考虑,症状前测试的长期结果,以及临床遗传测试的资源/成本-收益分析.
- 许多已识别的问题在现有文献中仍未得到充分探索或定义.
结论:
- 解决发现的差距和争议对于制定帕金森病遗传测试和咨询的共识和指导方针至关重要.
- 准则必须采用多学科的方法,考虑文化,地理和社会经济因素,以确保公平的获取和适当使用遗传检测.
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