在评估遗传性癌症风险时的公平和包容性:被排斥社区的见解,结构化访谈和人口遗传学
Janis Geary1, Lynette Hammond Gerido2, Amanda M Gutierrez1,3
1Arizona State University, Barrett & O'Connor Center, Washington, DC, USA.
概括
由于基因组数据有限,代表性不足的群体在遗传性癌症风险评估中面临挑战,导致更多的"未知意义的变异" (VUS) 结果. 解决这些不平等问题对于包容性基因测试和数据共享至关重要.
科学领域:
- 基因组学和精准医学精准医学
- 健康 公平 卫生 公平
- 人口健康 人口健康
背景情况:
- 遗传性癌症风险评估的基因组数据库主要基于欧洲祖先.
- 多样化人口的代表性不足导致基因测试中的"未知意义的变异" (VUS) 结果增加.
- 现有扩大代表性的努力面临着混合祖先个体的挑战,并忽视了种族主义的影响.
研究的目的:
- 确定和描述在遗传性癌症风险评估中包括代表性不足的人口群体的挑战.
- 探索与西班牙裔/拉丁裔,黑人/非洲裔和土著社区的持续工作的见解.
- 证明数据缺口,并为包容性遗传性癌症数据资源提出解决方案.
主要方法:
- 来自人口数据库的经验数据的分析,以确定遗传性癌症基因变异代表的差距.
- 与基因测试和数据共享专家进行采访,以收集关于创造包容性资源的见解.
- 案例研究重点关注西班牙裔/拉丁裔人口获得医疗保健,社区与黑人/非洲民群体的接触,以及土著数据主权.
主要成果:
- 遗传性癌症基因变异在代表人数不足的人群中存在显著差距.
- 患者获得文化敏感医疗保健和研究的不平等,以及资金差异,导致代表人数不足.
- 专家采访建议各种策略来改善数据共享和基因测试资源的包容性.
结论:
- 创建包容性遗传性癌症数据资源并没有单一的解决方案;需要采用多方面的方法.
- 解决研究和医疗保健准入方面的系统性不平等问题对于公平的基因测试至关重要.
- 改进数据共享和代表性将在遗传性癌症风险评估和管理中更好地服务于多样化的人口.
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