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突尼斯基因组计划:为北非精准医学铺平道路。

Genome Tunisia Project: paving the way for precision medicine in North Africa.

机构信息

Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Institut Pasteur de Tunis, University of Tunis El Manar, 13, place Pasteur, B.P. 74, Tunis, Belvédère, 1002, Tunisia.

Laboratory of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis, Tunisia.

出版信息

Genome Med. 2024 Aug 27;16(1):104. doi: 10.1186/s13073-024-01365-w.

DOI:10.1186/s13073-024-01365-w
PMID:39187811
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11348534/
Abstract

BACKGROUND

Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022-2035) which aims to deliver the reference sequence of the Tunisian Genome and to support the implementation of personalized medicine in Tunisia, a North African country that represents a central hub of population admixture and human migration between African, European, and Asian populations. The main goal of this initiative is to develop a healthcare system capable of incorporating omics data for use in routine medical practice, enabling medical doctors to better prevent, diagnose, and treat patients.

METHODS

A multidisciplinary partnership involving Tunisian experts from different institutions has come to discern all requirements that would be of high priority to fulfill the project's goals. One of the most urgent priorities is to determine the reference sequence of the Tunisian Genome. In addition, extensive situation analysis and revision of the education programs, community awareness, appropriate infrastructure including sequencing platforms and biobanking, as well as ethical and regulatory frameworks, have been undertaken towards building sufficient capacity to integrate personalized medicine into the Tunisian healthcare system.

RESULTS

In the framework of this project, an ecosystem with all engaged stakeholders has been implemented including healthcare providers, clinicians, researchers, pharmacists, bioinformaticians, industry, policymakers, and advocacy groups. This initiative will also help to reinforce research and innovation capacities in the field of genomics and to strengthen discoverability in the health sector.

CONCLUSIONS

Genome Tunisia is the first initiative in North Africa that seeks to demonstrate the major impact that can be achieved by Human Genome Projects in low- and middle-income countries to strengthen research and to improve disease management and treatment outcomes, thereby reducing the social and economic burden on healthcare systems. Sharing this experience within the African scientific community is a chance to turn a major challenge into an opportunity for dissemination and outreach. Additional efforts are now being made to advance personalized medicine in patient care by educating consumers and providers, accelerating research and innovation, and supporting necessary changes in policy and regulation.

摘要

背景

人类遗传学领域的重大发现和创新为分子医学和个性化医学奠定了基础。在这里,我们介绍 Genome Tunisia 项目,这是一个分两个阶段进行的计划(2022-2035 年),旨在提供突尼斯基因组的参考序列,并支持突尼斯实施个性化医学。突尼斯是一个北非国家,位于非洲、欧洲和亚洲人群混合和人口迁移的中心枢纽,它代表了一个人口混合和人口迁移的中心枢纽,是一个人口混合和人口迁移的中心枢纽。该倡议的主要目标是建立一个能够将组学数据纳入常规医疗实践的医疗保健系统,使医生能够更好地预防、诊断和治疗患者。

方法

一个涉及来自不同机构的突尼斯多学科专家的合作团队已经确定了所有优先事项,这些优先事项对于实现项目目标至关重要。最紧迫的优先事项之一是确定突尼斯基因组的参考序列。此外,还进行了广泛的情况分析和教育项目修订,提高了社区意识,建立了适当的基础设施,包括测序平台和生物库,以及伦理和监管框架,以建立足够的能力,将个性化医学纳入突尼斯医疗保健系统。

结果

在该项目的框架内,实施了一个包含所有相关利益攸关方的生态系统,包括医疗保健提供者、临床医生、研究人员、药剂师、生物信息学家、工业界、政策制定者和倡导团体。这一倡议还将有助于加强基因组学领域的研究和创新能力,并加强卫生部门的可发现性。

结论

Genome Tunisia 是北非的第一个倡议,旨在展示人类基因组计划在中低收入国家可以产生的重大影响,以加强研究,改善疾病管理和治疗结果,从而减轻医疗系统的社会和经济负担。在非洲科学界内分享这一经验是一个将重大挑战转化为传播和外联机会的机会。现在正在做出更多努力,通过教育消费者和提供者、加速研究和创新以及支持政策和法规的必要变革,在患者护理中推进个性化医学。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/8d748e3c409e/13073_2024_1365_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/ae1b784218b5/13073_2024_1365_Fig1_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/3995fde507f5/13073_2024_1365_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/d9d7babdb628/13073_2024_1365_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/8d748e3c409e/13073_2024_1365_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/ae1b784218b5/13073_2024_1365_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/d6d317d471bd/13073_2024_1365_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/a53d89e4f664/13073_2024_1365_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/3995fde507f5/13073_2024_1365_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/d9d7babdb628/13073_2024_1365_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/11348534/8d748e3c409e/13073_2024_1365_Fig6_HTML.jpg

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