国家资助的人口基因组查的医疗和心理社会结果
Ashley Cannon1, Olivia McMillan2, Whitley V Kelley3
1Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Clinical genetics
|June 20, 2023
概括
人口基因组查对成年人来说是可行的和安全的,参与者根据结果采取适当的医疗行动. 需要进一步的研究来证实临床效用和长期益处.
科学领域:
- 基因组医学是基因组医学.
- 人口健康 人口健康
- 遗传研究 遗传研究
背景情况:
- 越来越多的人口查需要评估医疗和心理社会结果.
- 阿拉巴马基因组健康倡议 (AGHI) 提供了可操作基因变异的基因查.
研究的目的:
- 评估人口基因组查的可行性,安全性和结果.
- 评估基因查后参与者的动机和后续行动.
主要方法:
- 基因定型用于选3874名参与者,以检测59个基因中的致病变体.
- 通过调查 (858名受访者) 和采访积极结果的参与者来评估结果.
主要成果:
- 进行测试的主要动机是对遗传研究的贡献 (64%).
- 有积极结果的参与者计划了更多的行动 (中位数=5) 比那些负面结果 (中位数=3).
- 50%的受访者以积极的结果采取了适当的医疗措施;没有报告有害的行为.
结论:
- 在未经选择的成年人中进行人口基因组查是可行的和安全的.
- 基因组查显示了积极参与者结果和未来健康益处的潜力.
- 需要进一步的研究来确定人口基因组查的临床效用.
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