在印度受过教育的普通人中,了解和与下一代测序相关的问题
Arya Shambhavi1, Amita Moirangthem1, Prabhaker Mishra2
1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Journal of genetic counseling
|March 20, 2025
概括
印度受过教育的人对下一代测序 (NGS) 有很好的理解,但希望获得全面的遗传信息. 需要对NGS的局限性进行进一步的教育,特别是对于产前测试的不确定结果.
科学领域:
- 遗传学 是一个遗传学.
- 基因组医学是基因组医学.
- 生物信息学是一种生物信息学.
背景情况:
- 下一代测序 (NGS) 越来越多地用于各种遗传查和个性化医学应用.
- 公众对NGS的理解,特别是在非专业人士中,仍然存在重大知识差距.
- 评估公众的看法对于有效实施基因组技术至关重要.
研究的目的:
- 评估印度受过教育的普通人对下一代测序 (NGS) 的理解,态度和关切.
- 识别知识差距并衡量公众愿意利用NGS进行与健康相关的决策.
- 为教育策略提供信息,以便公众更广泛地参与基因组信息.
主要方法:
- 一项涉及印度103名受过教育的平民的研究使用了线下和在线招聘方法的组合进行.
- 参与者收到了一份详细介绍DNA基础知识和NGS应用程序的信息表,用于识别遗传疾病.
- 纳入标准要求参与者准确地回答所有提供的问题.
主要成果:
- 参与者对所提供的NGS信息有很强的一般理解,平均正确答案率为80.3%.
- 大多数人表示愿意了解二次发现 (可采取行动和不可采取行动) 并对所有基因进行测序.
- 大多数参与者表示愿意分享结果,并且觉得在基因诊断的情况下更好地为健康决策做好准备,尽管大约一半预计潜在的痛苦.
结论:
- 印度受过教育的普通人对NGS有基本的了解,但寻求广泛的遗传信息.
- 该研究强调需要加强公众对NGS的影响和局限性的教育,特别是关于不确定的结果和产前检测.
- 研究结果强调了量身定制的沟通策略的重要性,以解决围绕基因组技术的公众期望和担忧.
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