赞助基因测试和知情同意的含义:遗传咨询师的经验和态度
Rachel Evard1, Ayuko Iverson1, Katherine E Bonini2,3
1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Journal of genetic counseling
|January 17, 2026
概括
遗传咨询师 (GCs) 发现赞助的遗传测试对患者获取有益,但注意到有关数据共享和同意的担忧. 在提供这些测试时,深思熟虑的讨论至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 生物伦理学生物伦理学
- 医疗保健研究 医疗保健研究
背景情况:
- 由非传统付款人资助的赞助基因测试,涉及到为诊断服务交换患者数据.
- 对于与营利性实体共享数据存在公众的担忧,但遗传咨询师 (GC) 对赞助测试的看法仍未得到充分研究.
研究的目的:
- 评估遗传咨询师对赞助的遗传测试的认识和态度.
- 探索赞助测试对知情同意过程的感知影响.
主要方法:
- 一种混合方法的方法,结合了对经过董事会认证的遗传咨询师的在线调查和随后针对那些有赞助测试经验的人的重点小组.
- 使用描述性统计数据对调查数据进行定量分析,并通过代码书主题分析对重点组数据进行定性分析.
主要成果:
- 大多数受访的临床医生 (61%) 认为赞助测试的优势超过了缺点,因为缺乏成本,患者获得的机会增加了.
- 关键问题包括数据共享缺乏透明度和有限的测试面板定制.
- 焦点小组参与者强调需要加强知情同意讨论,涵盖二次数据使用和未来的研究联系.
结论:
- 赞助基因测试提供了显著的患者获取优势,但需要仔细考虑伦理方面的影响,特别是关于数据隐私和知情同意.
- 遗传咨询师在向患者介绍赞助测试选择时,应参与共享决策和详细讨论数据使用情况.
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