多基因风险评分在乳腺癌风险感知和决策中的作用
Leslie Riddle1, Galen Joseph1, Mikaella Caruncho1
1Department of Humanities and Social Sciences, University of California, San Francisco, San Francisco, CA, USA.
Journal of community genetics
|June 13, 2023
概括
多基因风险评分 (PRS) 被个人理解,但其临床实用性受到访问障碍的限制. 参与者接受PRS作为一个风险因素,但金融和保险问题阻碍了加强查和降低风险的选择.
科学领域:
- 基因组学和精准医学精准医学
- 临床试验研究 临床试验研究
- 医疗保健服务研究 医疗服务研究
背景情况:
- 多基因风险评分 (PRS) 显示出增强临床风险评估的前景.
- 关于个人如何在医疗保健决策中感知和利用PRS信息的研究有限.
- 了解患者对PRS的反应对于临床实施至关重要.
研究的目的:
- 调查未受影响的乳腺癌试验参与者如何理解和使用PRS.
- 探索将PRS整合到多因素风险评分中,用于选和降低风险的决策.
- 在临床试验背景下检查PRS的伦理,法律和社会影响 (ELSI).
主要方法:
- 嵌入式伦理,法律和社会影响 (ELSI) 研究.
- 对24名乳腺癌试验参与者进行了半结构性定性访谈.
- 通过基于理论的方法分析了采访数据.
主要成果:
- 参与者从概念上理解PRS,并将其视为多种风险因素之一.
- 参与者对PRS估计的感知价值和意义各不相同.
- 金融和保险障碍限制了对增强查 (MRI) 和降低风险的药物的获取.
结论:
- 患者可以理解PRS,但临床翻译需要解决接入障碍.
- 在人口查中的风险识别和建议方面,存在道德问题.
- 获得护理的挑战可能会限制PRS指导干预措施的有效实施.
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