关于新生儿查中的基因组测序的公众和家长观点:一个范围审查
Saskia G Smits1,2, Suzanne M Onstwedder3,4, Tessel Rigter4
1Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands. saskia.smits@rivm.nl.
European journal of human genetics : EJHG
|February 6, 2026
概括
公众和家长对新生儿查 (NBS) 的基因组测序表现出兴趣. 虽然有助于,但存在对数据隐私和心理影响的担忧,需要进一步探索才能成功实施.
科学领域:
- 基因组学就是基因组学.
- 公共卫生 公共卫生
- 生物伦理学生物伦理学
背景情况:
- 新生儿查 (NBS) 确定新生儿可治疗的疾病,以便进行早期干预.
- 目前正在探索基因组测序,以提高NBS的能力.
- 了解公众和家长的观点对于将新技术整合到NBS至关重要.
研究的目的:
- 探索公众和家长对使用基因组测序在新生儿查 (NBS) 的观点.
- 确定与基因组NBS相关的感知好处和担忧.
- 了解在NBS程序中实施基因组测序的偏好.
主要方法:
- 来自Embase和Psych-abs数据库的文献范围审查 (2005年至2024年8月).
- 包括27篇描述7个国家的20项研究的文章,主要是基于调查.
- 对公众和母公司观点的定性和定量数据的分析.
主要成果:
- 对NBS基因组测序的普遍积极兴趣,尽管参与的意愿对于标准NBS更高.
- 感知到的好处包括改善新生儿健康,父母的准备,计划生育和人口健康的好处.
- 关键问题涉及数据隐私,存储,潜在的保险歧视以及结果的心理影响.
结论:
- 公众和家长通常支持将基因组测序纳入NBS.
- 解决有关数据隐私,歧视和心理影响的担忧对于持续支持至关重要.
- 需要进一步探讨公众和家长的观点,以便在现有的NBS计划中或与现有的NBS计划一起成功实施.
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