Suppr超能文献

西班牙裔/拉丁裔人群的遗传风险预测:里程碑、挑战及社会伦理考量

Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations.

作者信息

Maldonado Betzaida L, Piqué Daniel G, Kaplan Robert C, Claw Katrina G, Gignoux Christopher R

机构信息

Human Medical Genetics & Genomics Graduate Program, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.

Colorado Center for Personalized Medicine, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.

出版信息

J Community Genet. 2023 Dec;14(6):543-553. doi: 10.1007/s12687-023-00686-4. Epub 2023 Nov 14.

Abstract

Genome-wide association studies (GWAS) have allowed the identification of disease-associated variants, which can be leveraged to build polygenic scores (PGSs). Even though PGSs can be a valuable tool in personalized medicine, their predictive power is limited in populations of non-European ancestry, particularly in admixed populations. Recent efforts have focused on increasing racial and ethnic diversity in GWAS, thus, addressing some of the limitations of genetic risk prediction in these populations. Even with these efforts, few studies focus exclusively on Hispanics/Latinos. Additionally, Hispanic/Latino populations are often considered a single population despite varying admixture proportions between and within ethnic groups, diverse genetic heterogeneity, and demographic history. Combined with highly heterogeneous environmental and socioeconomic exposures, this diversity can reduce the transferability of genetic risk prediction models. Given the recent increase of genomic studies that include Hispanics/Latinos, we review the milestones and efforts that focus on genetic risk prediction, summarize the potential for improving PGS transferability, and highlight the challenges yet to be addressed. Additionally, we summarize social-ethical considerations and provide ideas to promote genetic risk prediction models that can be implemented equitably.

摘要

全基因组关联研究(GWAS)已使疾病相关变异得以识别,这些变异可用于构建多基因分数(PGS)。尽管PGS在个性化医疗中可能是一种有价值的工具,但其预测能力在非欧洲血统人群中有限,尤其是在混合人群中。最近的努力集中在增加GWAS中的种族和民族多样性,从而解决这些人群中遗传风险预测的一些局限性。即便有这些努力,很少有研究专门关注西班牙裔/拉丁裔人群。此外,尽管不同种族群体之间以及群体内部的混合比例不同、存在多样的遗传异质性和人口历史,但西班牙裔/拉丁裔人群通常被视为单一群体。这种多样性与高度异质的环境和社会经济暴露相结合,会降低遗传风险预测模型的可转移性。鉴于近期纳入西班牙裔/拉丁裔人群的基因组研究有所增加,我们回顾了专注于遗传风险预测的里程碑和努力,总结了提高PGS可转移性的潜力,并强调了有待解决的挑战。此外,我们总结了社会伦理考量,并提供了促进可公平实施的遗传风险预测模型的思路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38c2/10725387/15be0f90ebfd/12687_2023_686_Fig1_HTML.jpg

相似文献

1
Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations.
J Community Genet. 2023 Dec;14(6):543-553. doi: 10.1007/s12687-023-00686-4. Epub 2023 Nov 14.
2
AFA: Ancestry-specific allele frequency estimation in admixed populations: The Hispanic Community Health Study/Study of Latinos.
HGG Adv. 2022 Feb 24;3(2):100096. doi: 10.1016/j.xhgg.2022.100096. eCollection 2022 Apr 14.
3
Power of inclusion: Enhancing polygenic prediction with admixed individuals.
Am J Hum Genet. 2023 Nov 2;110(11):1888-1902. doi: 10.1016/j.ajhg.2023.09.013. Epub 2023 Oct 27.
4
The Genetic Basis of Type 2 Diabetes in Hispanics and Latin Americans: Challenges and Opportunities.
Front Public Health. 2017 Dec 11;5:329. doi: 10.3389/fpubh.2017.00329. eCollection 2017.
5
Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction.
HGG Adv. 2023 Jun 15;4(3):100214. doi: 10.1016/j.xhgg.2023.100214. eCollection 2023 Jul 13.
8
Comparison of methods for building polygenic scores for diverse populations.
HGG Adv. 2025 Jan 9;6(1):100355. doi: 10.1016/j.xhgg.2024.100355. Epub 2024 Sep 25.
10
Polygenic risk scores and kidney traits in the Hispanic/Latino population: The Hispanic Community Health Study/Study of Latinos.
HGG Adv. 2023 Jan 13;4(2):100177. doi: 10.1016/j.xhgg.2023.100177. eCollection 2023 Apr 13.

引用本文的文献

1
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Front Genet. 2025 May 29;16:1574325. doi: 10.3389/fgene.2025.1574325. eCollection 2025.

本文引用的文献

1
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature. 2023 Oct;622(7984):784-793. doi: 10.1038/s41586-023-06595-3. Epub 2023 Oct 11.
2
Mexican Biobank advances population and medical genomics of diverse ancestries.
Nature. 2023 Oct;622(7984):775-783. doi: 10.1038/s41586-023-06560-0. Epub 2023 Oct 11.
4
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Cell Genom. 2022 Oct 12;2(10):100192. doi: 10.1016/j.xgen.2022.100192.
5
The UCLA ATLAS Community Health Initiative: Promoting precision health research in a diverse biobank.
Cell Genom. 2023 Jan 11;3(1):100243. doi: 10.1016/j.xgen.2022.100243.
6
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.
Nucleic Acids Res. 2023 Jan 6;51(D1):D977-D985. doi: 10.1093/nar/gkac1010.
7
COVID-19 vaccination readiness among multiple racial and ethnic groups in the San Francisco Bay Area: A qualitative analysis.
PLoS One. 2022 May 12;17(5):e0266397. doi: 10.1371/journal.pone.0266397. eCollection 2022.
8
Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.
Genet Med. 2022 Jun;24(6):1217-1226. doi: 10.1016/j.gim.2022.03.006. Epub 2022 Apr 5.
10
Racial and ethnic inequities in the early distribution of U.S. COVID-19 testing sites and mortality.
Eur J Clin Invest. 2021 Nov;51(11):e13669. doi: 10.1111/eci.13669. Epub 2021 Aug 27.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验