来自"10万个基因组项目"的其他发现:对受体观点的定性研究
Joshua J Nolan1, Jamie Forrest2, Elizabeth Ormondroyd3
1Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.
概括
了解基因二次发现至关重要. 十万个基因组项目的许多参与者对额外的发现 (AF) 感到惊,这影响了他们的风险感知和管理决策.
科学领域:
- 基因组医学是基因组医学.
- 临床遗传学 临床遗传学
- 对遗传检测的心理反应
背景情况:
- 10万个基因组项目提供了对参与者的额外发现 (AF) 的查.
- AF包括与家族性高胆固醇血症或癌症倾向综合征相关的致病变体.
- 了解对AF的心理和行为反应是临床实用性和披露政策的关键.
研究的目的:
- 探索成人接受额外发现 (AFs) 的心理和行为反应.
- 为基因组测序程序的临床实用性和披露政策提供信息.
主要方法:
- 与32名成年AF接受者进行了半结构化采访.
- 数据分析采用了演和归纳的主题分析.
主要成果:
- 五个主题出现了:认知,情感,控制,感知风险和家庭影响.
- 许多参与者误解了同意,对AF感到惊,并与风险理解作斗争.
- 接受者通过临床评估,信息收集和通知亲属来寻求控制,尽管有些人由于风险概念化挑战而犹.
结论:
- 提供二次发现的基因组测序程序需要强大的同意流程.
- 披露后的护理应侧重于增强接受者对其遗传信息和健康决策的个人控制感.
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