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非洲人群的遗传多样性格局:对个性化和精准医学影响的综述

Genetic Diversity Landscape in African Population: A Review of Implications for Personalized and Precision Medicine.

作者信息

Sibomana Olivier

机构信息

Department of General Medicine and Surgery, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.

出版信息

Pharmgenomics Pers Med. 2024 Nov 11;17:487-496. doi: 10.2147/PGPM.S485452. eCollection 2024.

Abstract

INTRODUCTION

Africa, a continent considered to be the cradle of human beings has the largest genetic diversity among its population than other continents. This review discusses the implications of this high African genetic diversity to the development of personalized and precision medicine.

METHODOLOGY

A comprehensive search across PubMed, Google Scholar, Science Direct, DOAJ, AJOL, and the Cochrane Library electronic databases and manual Google searches was conducted using key terms "genetics", "genetic diversity", "Africa", "precision medicine", and "personalized medicine". Updated original and review studies focusing on the implications of African high genetic diversity on personalized and precision medicine were included. Included studies were thematically synthesized to elucidate their positive or negative implications for personalized healthcare, aiming to foster informed clinical practice and scientific inquiry.

RESULTS

African populations' high genetic diversity presents opportunities for personalized and precision medicine including improving pharmacogenomics, understanding gene interactions, discovering new variants, mapping disease genes, creating updated genomic reference panels, and validating biomarkers. However, challenges include underrepresentation in studies, scarcity of reference genomes, inaccuracy of genetic testing and interpretation, and ancestry misclassification. Addressing these requires the establishment of genomic research centers, increasing funding, creating biobanks and repositories, education, infrastructure, and international cooperation to enhance healthcare equity and outcomes through personalized and precision medicine.

CONCLUSION

High African genetic diversity presents both positive and negative implications for personalized and precision medicine. Deep further research is recommended to harness the challenges and use the opportunities to develop customized treatments.

摘要

引言

非洲被认为是人类的摇篮,其人口的基因多样性比其他大陆的人口更为丰富。本综述探讨了非洲这种高度的基因多样性对个性化和精准医学发展的影响。

方法

通过在PubMed、谷歌学术、科学Direct、DOAJ、AJOL和考科蓝图书馆电子数据库中进行全面检索,并手动在谷歌上搜索,使用关键词“遗传学”“基因多样性”“非洲”“精准医学”和“个性化医学”。纳入了关注非洲高度基因多样性对个性化和精准医学影响的最新原创性研究和综述研究。对纳入的研究进行主题综合分析,以阐明其对个性化医疗保健的积极或消极影响,旨在促进明智的临床实践和科学探究。

结果

非洲人群的高度基因多样性为个性化和精准医学带来了机遇,包括改善药物基因组学、理解基因相互作用、发现新变异、绘制疾病基因图谱创建更新的基因组参考面板以及验证生物标志物。然而,挑战包括在研究中的代表性不足、参考基因组稀缺、基因检测和解读不准确以及祖先误分类。应对这些问题需要建立基因组研究中心、增加资金投入、创建生物样本库和储存库、开展教育、改善基础设施以及进行国际合作,以通过个性化和精准医学提高医疗保健公平性和改善医疗结果。

结论

非洲高度的基因多样性对个性化和精准医学既有积极影响也有消极影响。建议进行更深入的研究,以应对挑战并利用机遇开发定制化治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53bb/11566596/e7dfb01e8296/PGPM-17-487-g0001.jpg

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