从父母的镜头了解神经肌肉疾病基因测试的挑战
Farheen Hakim Zada1, Ahmad Hazim Syakir Ahmad Azahari1, Sau Wei Wong1
1Department of Pediatric, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
Journal of personalized medicine
|December 23, 2023
概括
对神经肌肉疾病的遗传检测对于早期诊断和计划生育至关重要. 马来西亚的父母是马来西亚人.
科学领域:
- 遗传学和神经学 遗传学和神经学
- 医学社会学 医学社会学
背景情况:
- 神经肌肉疾病会导致肌肉逐渐退化和衰弱.
- 在这种情况下,基因检测对于早期诊断,治疗和计划生育至关重要.
研究的目的:
- 探索与神经肌肉疾病患者的马来西亚父母之间对基因测试的知识,意识和看法.
主要方法:
- 使用与家长进行半结构面试的定性研究.
- 数据分析产生了九个总体主题,涉及父母对遗传测试的看法.
主要成果:
- 父母对神经肌肉疾病遗传检测的认识有所不同,从低到足够.
- 确定的主要挑战包括有限的认识,财务限制和感知到的意义.
- 在遗传咨询和个人经验之后,对遗传测试的有利看法增加了.
结论:
- 父母对神经肌肉疾病遗传检测的认识和看法受到个人经验和遗传咨询的影响.
- 可能需要有针对性的教育干预措施来解决意识差距和财务障碍.
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