个人的经验在遗传咨询和预测测试为家族性肌缩侧面硬化症的个人经验
Connolly G Steigerwald1,2, Carina Bertolini1, Martin McElhiney3,4
1Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York City, New York, USA.
Journal of genetic counseling
|March 13, 2024
概括
预测性遗传测试用于肌缩侧面硬化症 (ALS) 显示了显著的心理影响. 阳性测试的个体经历了更多的痛苦,而没有测试的人则报告了更多的遗憾和对遗传风险的焦虑.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 心理学 心理学 心理学
背景情况:
- 临床遗传测试用于肌缩侧面硬化症 (ALS) 的数量正在增加,扩大了对有风险的家庭成员的识别.
- 缺乏用于预测性遗传测试的具体实践指南,以及对心理影响的研究有限,这阻碍了针对这一群体量身定制的建议.
研究的目的:
- 为了调查具有继承ALS相关基因突变风险的无症状个体.
- 了解与ALS家族预测性遗传测试相关的心理影响和决策因素.
主要方法:
- 一个80个问题的调查,结合了验证的措施 (一般焦虑障碍,FACToR,决定后悔尺度) 和原始项目.
- 对90名患有ALS遗传突变风险的无症状个体进行调查,包括接受预测性遗传测试 (N=42) 和未接受预测性遗传测试 (N=48) 的人.
主要成果:
- 基因阳性个体报告了更大的消极性,不确定性和心理损伤.
- 没有接受测试的个人经历了更有决心的后悔,并经常考虑他们的风险.
- 对潜在的临床药物试验的准备是进行基因测试的重要动机.
结论:
- 预测ALS遗传测试与严重的心理痛苦和决策考虑有关.
- 对于临床药物试验的准备的愿望可能会推动未来在ALS中进行基因测试的普及.
- 这些发现可以为患有ALS的风险个人和家庭提供遗传咨询实践.
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