非洲人口的遗传多样性景观:对个性化和精准医学影响的综述》。

IF 1.8 4区 医学 Q3 PHARMACOLOGY & PHARMACY
Pharmacogenomics & Personalized Medicine Pub Date : 2024-11-11 eCollection Date: 2024-01-01 DOI:10.2147/PGPM.S485452
Olivier Sibomana
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引用次数: 0

摘要

导言:非洲大陆被认为是人类的摇篮,与其他大陆相比,非洲人口的遗传多样性最为丰富。本综述讨论了非洲高度的遗传多样性对个性化和精准医学发展的影响:使用关键词 "遗传学"、"遗传多样性"、"非洲"、"精准医学 "和 "个性化医学",在 PubMed、Google Scholar、Science Direct、DOAJ、AJOL 和 Cochrane Library 电子数据库中进行了全面搜索,并在 Google 上进行了手动搜索。纳入的最新原始研究和综述研究侧重于非洲高度遗传多样性对个性化和精准医疗的影响。对纳入的研究进行了专题综述,以阐明其对个性化医疗的积极或消极影响,旨在促进知情的临床实践和科学探索:结果:非洲人群高度的遗传多样性为个性化和精准医疗带来了机遇,包括改善药物基因组学、了解基因之间的相互作用、发现新的变体、绘制疾病基因图谱、创建最新的基因组参考面板以及验证生物标记物。然而,面临的挑战包括研究中的代表性不足、参考基因组稀缺、基因测试和解释不准确以及祖先分类错误。要解决这些问题,需要建立基因组研究中心、增加资金投入、建立生物库和资料库、开展教育、建设基础设施以及开展国际合作,从而通过个性化和精准医疗提高医疗保健的公平性和成果:非洲基因的高度多样性对个性化和精准医疗既有积极影响,也有消极影响。建议进一步深入研究,应对挑战,利用机遇,开发个性化治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Diversity Landscape in African Population: A Review of Implications for Personalized and Precision Medicine.

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.

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来源期刊
Pharmacogenomics & Personalized Medicine
Pharmacogenomics & Personalized Medicine Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
3.30
自引率
5.30%
发文量
110
审稿时长
16 weeks
期刊介绍: Pharmacogenomics and Personalized Medicine is an international, peer-reviewed, open-access journal characterizing the influence of genotype on pharmacology leading to the development of personalized treatment programs and individualized drug selection for improved safety, efficacy and sustainability. In particular, emphasis will be given to: Genomic and proteomic profiling Genetics and drug metabolism Targeted drug identification and discovery Optimizing drug selection & dosage based on patient''s genetic profile Drug related morbidity & mortality intervention Advanced disease screening and targeted therapeutic intervention Genetic based vaccine development Patient satisfaction and preference Health economic evaluations Practical and organizational issues in the development and implementation of personalized medicine programs.
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