弥合基因组学的最大挑战:多样性差距
Manuel Corpas1, Mkpouto Pius2, Marie Poburennaya3
1Life Sciences, University of Westminster, 115 New Cavendish Street, W1W 6UW London, UK; The Alan Turing Institute, London, UK; Cambridge Precision Medicine Ltd., ideaSpace, University of Cambridge Biomedical Innovation Hub, Cambridge, UK.
Cell genomics
|December 18, 2024
概括
生物医学数据中的多样性代表性对于健康公平至关重要. 目前的基因组数据集,包括GWAS和DTC测试,不充分代表全球祖先的多样性,冒着健康差异的风险.
科学领域:
- 生物医学数据科学 生物医学数据科学
- 基因组学就是基因组学.
- 健康 公平 卫生 公平
背景情况:
- 生物医学数据中的多样性代表对于公平的医疗保健至关重要.
- 缺乏代表性使健康差异延续,并引入对代表性不足的祖先群体的偏见.
- 基因组洞察力对于基于证据的医学越来越重要.
研究的目的:
- 在关键的人类基因组学数据集中量化评估祖先的代表性.
- 将数据集中的比例比例与全球人口普查数据和遗传多样性进行比较.
- 突出全球基因组多样性在研究中战略性纳入的必要性.
主要方法:
- 在人类基因组学数据集中对祖先代表性的定量评估.
- 分析包括全基因组关联研究 (GWAS),药物基因组学,临床试验和直接向消费者 (DTC) 遗传测试.
- 数据集祖先比例与全球人口普查数据的比较.
主要成果:
- 现有的基因组数据集显示,全球祖先遗传多样性的代表性不足.
- 某些种群相对于它们的全球人口规模和基因组多样性来说是过度代表的.
- 这种不平衡可能会加剧代表性不足的群体的健康差异.
结论:
- 目前的基因组数据集不能充分反映全球祖先的多样性.
- 在基因组数据中,某些群体的过度代表和其他群体的不足代表可能会加剧健康不平等.
- 战略努力至关重要,以确保数据集的全面全球基因组多样性,以实现公平的医疗保健进步.
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