数字之前的叙述:在遗传咨询实践中重新想象关于种族,种族和祖先信息的对话
Emily Peugh1, Sara Chandros Hull1,2, Leila Jamal1,3
1Clinical Center, Department of Bioethics, National Institutes of Health NIH, Bethesda, Maryland, USA.
Journal of genetic counseling
|November 3, 2025
概括
在遗传咨询中收集种族,种族和祖先 (REA) 信息通常是不必要的风险评估. 讨论应该由患者主导,专注于个人经验和目标,而不是默认数据收集.
科学领域:
- 遗传学 是一个遗传学.
- 生物伦理学生物伦理学
- 遗传咨询 遗传咨询
背景情况:
- 基因组测试在临床实践中越来越普遍.
- 在遗传咨询中常规收集种族,种族和祖先 (REA) 信息是一种常见但有争议的做法.
- 对REA数据收集的现有理由需要重新评估.
研究的目的:
- 批判性地检查遗传咨询中默认收集REA信息的实际和伦理理由.
- 提出讨论REA的替代框架,优先考虑患者的自主性和相关性.
- 评估REA数据对遗传风险评估,测试资格和患者治疗师关系的影响.
主要方法:
- 在临床遗传学中使用REA信息的当前和历史原因的评估.
- 基于三个关键考虑因素的伦理分析:对测试/风险评估的影响,数据库表示不平等以及治疗联盟.
- 为REA讨论制定以患者为中心的叙事框架.
主要成果:
- 对于患者风险评估和测试资格的默认REA信息收集的实用性往往是可疑的.
- 不公平的基因组数据库表示对REA数据的准确应用提出了挑战.
- 关于REA讨论对治疗关系的影响需要仔细考虑.
结论:
- 在遗传咨询中收集REA信息的默认实践应该受到限制.
- 关于REA的讨论应该由患者领导,专注于个人经验,价值观和咨询目标.
- 以患者为中心的叙事方法可以使患者能够在咨询背景下表达他们身份的相关性.
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