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设计包容的新生儿测序研究:来自代表性不足社区的家长的见解
Maya C Del Rosario1,2, Sheyenne A Walmsley3,4, Barbara W Harrison5
1Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
BMC medical genomics
|January 28, 2026
概括
来自代表性不足的种族和民族群体的父母对婴儿基因组测序 (GS) 研究感兴趣. 解决关于招生程序和结果的担忧可以减少障碍,改善参与基因组研究的情况.
科学领域:
- 基因组学就是基因组学.
- 儿科研究 儿科研究
- 健康 公平 卫生 公平
背景情况:
- 新生儿和儿童的基因组测序 (GS) 需要来自代表不足的种族和民族群体 (URG) 的多元参与,以实现公平的应用.
- 了解URG对GS研究的看法对于开发有效的招聘策略至关重要.
- 父母参与儿科基因组研究对于推进精准医学至关重要.
研究的目的:
- 探索来自URG的家长关于儿童基因组测序研究的观点.
- 确定URG参与婴儿基因组测序研究的障碍和促进因素.
- 为设计包容性和响应性基因组研究协议提供信息.
主要方法:
- 进行了半结构化采访,与来自代表性不足的种族和民族群体的50名父母进行了采访.
- 收集了有关父母对婴儿基因组测序研究的兴趣,动机和担忧的见解.
- 分析了定性数据,以了解参与者的观点,并确定招生挑战.
主要成果:
- 报告说,父母对参与婴儿基因组测序研究的兴趣很高.
- 参与的主要动机包括临床实用性,个人实用性和家庭健康益处.
- 确定了招生威因素,如程序性不适,有限的情绪能力,研究感知和对遗传结果的担忧.
结论:
- 来自URG的家长表达了对为基因组测序研究做出贡献的重大兴趣.
- 提供了设计基因组研究的建议,以解决家长的担忧并促进公平参与.
- 未来的基因组研究应该优先考虑包容性和响应多样化的社区需求.
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