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。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-11-14 DOI:10.1007/s12687-023-00686-4
Betzaida L Maldonado, Daniel G Piqué, Robert C Kaplan, Katrina G Claw, Christopher R Gignoux
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引用次数: 0

摘要

全基因组关联研究(GWAS)已经允许识别疾病相关变异,这可以用来建立多基因评分(pgs)。尽管pgs可以成为个性化医疗的宝贵工具,但它们在非欧洲血统人群中的预测能力有限,特别是在混合人群中。最近的努力集中在增加GWAS的种族和民族多样性上,从而解决了这些人群遗传风险预测的一些局限性。即使有了这些努力,很少有研究只关注西班牙裔/拉丁裔。此外,西班牙裔/拉丁裔人口通常被认为是一个单一的人口,尽管不同种族群体之间和内部的混合比例不同,遗传异质性不同,人口历史也不同。与高度异质性的环境和社会经济暴露相结合,这种多样性会降低遗传风险预测模型的可转移性。鉴于最近包括西班牙裔/拉丁裔在内的基因组研究的增加,我们回顾了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,并强调了尚未解决的挑战。此外,我们总结了社会伦理方面的考虑,并提出了促进遗传风险预测模型公平实施的思路。
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Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations.

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.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
期刊最新文献
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