以公平为重点的实施,以加强对罕见疾病基因组研究的获取,并了解各种观点
Eva Martinez1, Jillian Serrano1, Siwaar Abouhala1
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142.
概括
这项研究通过实施有针对性的招聘策略,改善了罕见疾病基因组研究的多样性. 这些干预措施成功地招募了代表性不足的人群,促进了基因诊断的可访问性.
科学领域:
- 基因组学就是基因组学.
- 罕见疾病 罕见疾病
- 健康 公平 卫生 公平
背景情况:
- 罕见疾病基因组研究的参与往往有限,缺乏来自不同种族,种族和社会经济群体的代表.
- 基因组研究中的代表性不足会导致健康差异,并阻碍对所有人群相关的遗传变异的发现.
研究的目的:
- 实施和评估一项多方面的干预措施,旨在增加少数群体在稀有基因组项目 (RGP) 的参与.
- 支持根据种族,民族,母语,收入,教育和农村居住地招聘个人.
主要方法:
- 一项前性队列研究跟踪了使用临床医师参与,语言支持,灵活的参与者联系和移动瘤切除等干预措施的入学完成情况.
- 参与者完成了一项调查,评估他们对遗传诊断的价值观和优先事项.
主要成果:
- 83%的参与者完成了注册,临床医生推表和增加员工协助证明非常有效.
- 基因组测序在13%的参与者中发现了诊断,在17%的参与者中发现了潜在的候选者; 76%的诊断是从临床医生推中得出的.
- 84%的参与者报告了基因诊断的高度感知重要性,西班牙语主要语言与这种感知积极相关,高收入与这种感知负面相关.
结论:
- 一个以公平为重点的倡议成功地招募了来自历史上代表性不足的群体的参与者参加罕见疾病基因组研究.
- 该研究提供了对参与潜在激励因素的见解,并强调了有针对性的招聘策略的重要性.
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