马来西亚父母对原发性免疫缺陷疾病遗传检测的知识,意识和看法:一项定性研究
Ahmad Hazim Syakir Ahmad Azahari1, Farheen Hakim Zada1, Intan Hakimah Ismail2
1Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
Frontiers in immunology
|January 29, 2024
概括
患有初级免疫缺陷 (PID) 的孩子的父母对遗传检测的认识和理解有所不同. 改善获取和沟通对于更好地诊断和支持这些罕见的遗传疾病至关重要.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 初级免疫缺陷疾病 (PID) 或先天性免疫错误 (IEI) 是一种影响免疫反应的罕见遗传疾病.
- 这些情况增加了对感染,过敏和自身免疫性疾病的易感性.
- 马来西亚有限的基因测试可用性给家庭带来了财务和可访问性挑战.
研究的目的:
- 探索马来西亚有PID儿童的父母对基因测试的知识,意识和看法.
- 识别影响PID遗传检测理解的挑战和因素.
- 为改善遗传检测服务和沟通策略提供见解.
主要方法:
- 使用在线半结构化焦点小组采访进行的定性横截面研究.
- 通过马来西亚原发性免疫缺陷患者组织 (MyPOPI) 招募的家长方便抽样.
- 从马来西亚各地的不同地区从2023年5月到7月收集的数据.
主要成果:
- 焦点小组揭示了11个子主题,分为四个主要主题:对基因测试的认识/理解,诊断/治疗旅程,情感/心理影响以及医学专家和公众感知的作用.
- 父母的理解是由获得服务,家庭历史和个人情况所塑造的.
- 关键主题包括诊断方面的挑战,情绪负担以及医疗保健专业人员的关键作用.
结论:
- 父母对PID遗传检测的知识和看法存在显著的多样性.
- 加强可访问性和有针对性的沟通策略对于改善理解和减少耻辱是必不可少的.
- 加强医疗保健专业人员的作用对于有效诊断和管理PID至关重要.
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