在遗传和环境研究研究中实施二次发现分析
Jennifer J Johnston1, Julie C Sapp1, Seeley Yoo1
1Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD.
从遗传研究中返回二次发现 (SF) 是复杂的. 虽然许多参与者同意,但由于下降或延迟,只有不到一半的参与者获得了结果,这凸显了对优化外展的需求.
科学领域:
- 基因组学就是基因组学.
- 临床遗传学 临床遗传学
- 生物伦理学生物伦理学
背景情况:
- 研究研究产生了具有潜在健康影响的二次发现 (SF).
- 回归SF涉及复杂的后勤和道德方面的考虑.
- 了解参与者对科学科学回报的参与对于优化研究实践至关重要.
研究的目的:
- 调查研究环境中返回二次发现 (SF) 相关的复杂性和挑战.
- 分析SFs成功回报率和影响参与者吸收的因素.
- 确定提高SF返回流程效率和有效性的策略.
主要方法:
- 在健康研究中为4737名参与者生成基因组序列.
- 从4630名参与者获得了SF回报的同意.
- 使用美国医学遗传学和基因组学学院/分子病理学协会的标准与ClinGen修改进行分类变异.
主要成果:
- 八十六种变体符合102名参与者返回的条件.
- 初次再接触的平均时间为5.8年;达到了95个人.
- 结果被返回57名参与者;显著比例下降或被丢失后续.
- 结果的回报与教育状况 (P = .0035) 有积极的关联.
结论:
- 对SFs的高初始兴趣与实际结果交付率较低形成对比.
- 同意的参与者中有很大一部分后来拒绝了SF接收.
- 优化SF回报需要尽量减少回报时间,并根据教育水平量身定制外展.
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