The Role of Pharmacogenomics Studies for Precision Medicine Among Ethiopian Patients and Their Clinical Implications: A Scoping Review

Kefyalew Ayalew Getahun, Dessie Abebaw Angaw, Mezgebu Silamsaw Asres, Wubayehu Kahaliw, Zelalem Petros, Solomon Mequanente Abay, Getnet Yimer, Nega Berhane
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Abstract

Background: Pharmacogenomics research is currently revolutionizing treatment optimization by discovering molecular markers. Medicines are the cornerstone of treatment for both acute and chronic diseases. Pharmacogenomics associated treatment response varies from 20% to 95%, resulting in from lack of efficacy to serious toxicity. Pharmacogenomics has emerged as a useful tool for therapy optimization and plays a bigger role in clinical care going forward. However, in Africa, in particular in Ethiopia, such studies are scanty and not generalizing. Therefore, the objective of this review was to outline such studies, generating comprehensive evidence and identify studied variants’ association with treatment responses in Ethiopian patients.
Methods: The Joanna Briggs Institute’s updated 2020 methodological guidelines for conducting and guidance for scoping reviews were used. We meticulously adhered to the systemic review reporting items checklist and scoping review meta-analyses extension.
Results: Two hundred twenty-nine possibly relevant studies were searched. These include: 64, 54, 21, 48 and 42 from PubMed, Scopus, Google Scholar, EMBASE, and manual search, respectively. Seventy-seven duplicate studies were removed. Thirty-nine papers were rejected with justification, whereas 58 studies were qualified for full-text screening. Finally 19 studies were examined. The primary pharmacogene that was found to have a significant influence on the pharmacokinetics of efavirenz was CYP2B6. Drug-induced liver injury has frequently identified toxicity among studied medications.
Conclusion and Future Perspectives: Pharmacogenomics studies in Ethiopian populations are less abundant. The studies conducted focused on infectious diseases, specifically on HAART commonly efavirenz and backbone first-line anti-tuberculosis drugs. There is a high need for further pharmacogenomics research to verify the discrepancies among the studies and for guiding precision medicine. Systematic review and meta-analysis are also recommended for pooled effects of different parameters in pharmacogenomics studies.

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药物基因组学研究对埃塞俄比亚患者精准医疗的作用及其临床意义:范围界定综述
背景:目前,药物基因组学研究正通过发现分子标记物为优化治疗带来革命性的变化。药物是治疗急性和慢性疾病的基石。与药物基因组学相关的治疗反应从 20% 到 95% 不等,从缺乏疗效到严重毒性。药物基因组学已成为优化治疗的有用工具,并在未来的临床治疗中发挥更大的作用。然而,在非洲,尤其是埃塞俄比亚,此类研究很少,也不具有普遍性。因此,本综述旨在概述此类研究,提供全面的证据,并确定研究变异与埃塞俄比亚患者治疗反应的关系:方法:我们采用了乔安娜-布里格斯研究所(Joanna Briggs Institute)更新的 2020 年开展方法指南和范围界定综述指南。我们严格遵守了系统综述报告项目核对表和范围界定综述荟萃分析扩展:我们检索了 229 项可能相关的研究。这些研究包括其中包括:从 PubMed、Scopus、Google Scholar、EMBASE 和人工检索中分别检索到 64、54、21、48 和 42 项研究。删除了 77 篇重复研究。有 39 篇论文被有理有据地拒绝,而有 58 篇研究符合全文筛选条件。最后审查了 19 项研究。研究发现,对依非韦伦药代动力学有显著影响的主要药代动力学基因是 CYP2B6。药物引起的肝损伤是研究药物中经常发现的毒性:在埃塞俄比亚人群中开展的药物基因组学研究较少。已开展的研究主要集中在感染性疾病方面,特别是 HAART 常用的依非韦伦和一线抗结核骨干药物。我们亟需进一步开展药物基因组学研究,以验证研究之间的差异,并为精准医疗提供指导。建议进行系统回顾和荟萃分析,以汇总药物基因组学研究中不同参数的影响。
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