在遗传性运动神经元疾病中进行预测性基因测试的经验:从定性采访研究中得出的结果
Jade Howard1, Karen Forrest Keenan2, Fadhila Mazanderani3
1Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Journal of genetic counseling
|April 17, 2024
概括
遗传运动神经元疾病 (iMND) 的预测基因测试涉及复杂的个人和家庭决策. 了解这些经验对于开发有效的,针对疾病的支持结构至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 心理学 心理学 心理学
背景情况:
- 遗传运动神经元疾病 (iMND) 的预测基因测试正在变得越来越容易获得.
- 对于接受iMND遗传检测的个体的决策过程和生活经验的了解有限.
研究的目的:
- 探索各种方法,动机和因素,影响对有IMND风险的个体进行预测性遗传测试的决定.
- 了解iMND的遗传测试结果后的情绪影响和适应过程.
- 在iMND预测基因测试的背景下,确定对疾病特异性支持结构的需求.
主要方法:
- 进行了一个建构主义基于理论的采访研究.
- 已确诊或疑似IMND的个体的24名家庭成员参加了.
- 参与者包括曾经接受预测测试 (阳性或阴性结果) 的人和没有接受预测测试的人.
主要成果:
- 测试决策受到个人态度,目标,遗传风险经验和家庭考虑的影响.
- 测试结果,无论结果如何,都对参与者的未来前景产生了重大影响,需要个别调整.
- 结果后的支持是可变的,感知到缺乏支持阻碍了应对和进步.
结论:
- 使用iMND预测基因测试的经验是独一无二的,并且与其他遗传疾病不同.
- 对于iMND中预测性遗传测试的量身定制的指导方针和支持系统有着至关重要的需要.
- 预计测试普及率的增加需要专注于了解和解决个体需求.
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