西班牙裔/拉丁裔的遗传风险预测:里程碑,挑战和社会伦理考虑
Betzaida L Maldonado1,2,3, Daniel G Piqué4,5, Robert C Kaplan6
1Human Medical Genetics & Genomics Graduate Program, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA. betzaida.maldonado@cuanschutz.edu.
Journal of community genetics
|November 14, 2023
概括
多基因分数 (PGSs) 在西班牙裔/拉丁裔等多元人口中显示出有限的预测能力,原因是祖先偏见. 改善GWAS多样性对于公平的遗传风险预测和个性化医疗至关重要.
科学领域:
- 基因组学就是基因组学.
- 个性化医疗是个性化的医疗.
- 人口遗传学 人口遗传学
背景情况:
- 全基因组关联研究 (GWAS) 识别了多基因分数 (PGS) 的疾病相关变异.
- 在非欧洲和混合人口中,包括西班牙裔/拉丁裔,PGS的预测能力是有限的.
- 西班牙裔/拉丁裔人口表现出显著的遗传和环境异质性,影响了模型的可转移性.
研究的目的:
- 审查西班牙裔/拉丁裔遗传风险预测的里程碑.
- 总结了改善多基因分数在不同人群中的可转移性的努力.
- 突出公平实施的挑战和社会伦理考虑.
主要方法:
- 审查包括西班牙裔/拉丁裔在内的最近的基因组研究.
- 分析影响多基因分数可转移性的因素.
- 综合社会伦理方面的考虑.
主要成果:
- 最近的基因组研究正在增加多样性,但很少有人专注于西班牙裔/拉丁裔.
- 西班牙裔/拉丁裔群体内的异质性挑战了普遍适用的PGSs的发展.
- 解决祖先偏见和异质性是提高PGS准确性的关键.
结论:
- 提高GWAS多样性对于公平的遗传风险预测至关重要.
- 需要进行进一步的研究,以克服代表性不足的群体在PGS可转移性方面的挑战.
- 公平的实施需要仔细考虑社会伦理因素.
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