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走向代表性基因组研究:儿童罕见疾病队列的经验

Zoë J Frazier¹, Eurnestine Brown^1,2, Shira Rockowitz³

¹Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Therapeutic advances in rare disease

|August 25, 2023

概括

在基因测试队伍中存在种族和种族差异,黑人/非裔美国人和多种族/西班牙裔个人在研究计划中的代表性不足. 解决这些差距对于罕见病研究和精准医学中的健康公平至关重要.

科学领域:

遗传学遗传学是一个
健康公平卫生公平
生物信息学是一种生物信息学.

背景情况:

种族,文化和语言边缘化造成了基因检测获取障碍.
在电子健康记录 (EHR) 中不包含种族/民族类别,阻碍了对差异的追踪.
实现健康平等和了解罕见遗传疾病需要所有人群的包容性获取.

研究的目的:

制定修订后的,包容性的种族和民族类别.
在波士顿儿童医院 (BCH) 的三个队列中评估种族和民族代表性:一般患者群体,临床基因组测试和儿童罕见疾病队列 (CRDC).

主要方法:

从EHR收集了一般BCH,临床测序和CRDC队列的种族和种族数据.
开发了一套单一的,全面的种族和民族类别.
将EHR数据映射到修订后的类别中,并将患者人数与队列进行比较.

主要成果:

与一般BCH人群相比,CRDC队列显示黑人或非裔美国人/非洲人,非西班牙裔/非拉丁裔个体的代表性明显较低.
与临床测序队列相比,CRDC队列中多种族,西班牙裔/拉丁裔个体的代表性明显较低.
与其他两个队列相比,白人,非西班牙裔/非拉丁裔个人在CRDC中占有过多的比例.

结论:

某些种族和种族群体在基因测序队列中相对于一般医院人口来说代表性不足.
拟议的措施旨在为公平的精准医学和罕见疾病研究解决这些差异.
确保公平的代表性对于罕见病社区的进步至关重要.

关键词:

电子医疗记录电子医疗记录民族身份民族身份基因检测基因检测是指基因检测.基因组研究是基因组研究.卫生公平性健康公平性竞争竞争竞争竞争种族差异就是种族差异.代表性代表性的代表性

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