突尼斯基因组计划:为北非精准医疗铺平道路。

IF 10.4 1区 生物学 Q1 GENETICS & HEREDITY Genome Medicine Pub Date : 2024-08-27 DOI:10.1186/s13073-024-01365-w
Yosr Hamdi, Mediha Trabelsi, Kais Ghedira, Maroua Boujemaa, Ikhlas Ben Ayed, Cherine Charfeddine, Amal Souissi, Imen Rejeb, Wafa Kammoun Rebai, Chaima Hkimi, Fadoua Neifar, Nouha Jandoubi, Rahma Mkaouar, Melek Chaouch, Ayda Bennour, Selim Kamoun, Hend Chaker Masmoudi, Nabil Abid, Maha Mezghani Khemakhem, Saber Masmoudi, Ali Saad, Lamia BenJemaa, Alia BenKahla, Samir Boubaker, Ridha Mrad, Hassen Kamoun, Sonia Abdelhak, Moez Gribaa, Neila Belguith, Najla Kharrat, Dorra Hmida, Ahmed Rebai
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引用次数: 0

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。突尼斯是一个北非国家,是非洲、欧洲和亚洲人口混合和迁徙的中心枢纽,我们在此介绍突尼斯基因组计划(Genome Tunisia Project),该计划分为两个阶段(2022-2035 年),旨在提供突尼斯基因组参考序列并支持个性化医疗在突尼斯的实施。这项计划的主要目标是建立一个能够将 Omics 数据用于常规医疗实践的医疗保健系统,使医生能够更好地预防、诊断和治疗病人:方法:由突尼斯不同机构的专家组成的多学科合作小组已经确定了实现项目目标的所有优先要求。当务之急之一是确定突尼斯基因组的参考序列。此外,还对教育计划、社区意识、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进行了广泛的情况分析和修订,以建设足够的能力,将个性化医疗纳入突尼斯医疗保健系统:成果:在该项目框架内,建立了一个由所有利益相关者参与的生态系统,其中包括医疗服务提供者、临床医生、研究人员、药剂师、生物信息学家、行业、政策制定者和宣传团体。该倡议还将有助于加强基因组学领域的研究和创新能力,并提高卫生部门的可发现性:突尼斯基因组计划是北非的第一项计划,旨在展示人类基因组计划在中低收入国家所能产生的重大影响,以加强研究,改善疾病管理和治疗效果,从而减轻医疗保健系统的社会和经济负担。在非洲科学界分享这一经验是将重大挑战转化为传播和推广机会的一次机会。目前正在做出更多努力,通过教育消费者和提供者、加快研究和创新以及支持政策和法规方面的必要变革,在患者护理中推进个性化医疗。
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Genome Tunisia Project: paving the way for precision medicine in North Africa.

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.

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来源期刊
Genome Medicine
Genome Medicine GENETICS & HEREDITY-
CiteScore
20.80
自引率
0.80%
发文量
128
审稿时长
6-12 weeks
期刊介绍: Genome Medicine is an open access journal that publishes outstanding research applying genetics, genomics, and multi-omics to understand, diagnose, and treat disease. Bridging basic science and clinical research, it covers areas such as cancer genomics, immuno-oncology, immunogenomics, infectious disease, microbiome, neurogenomics, systems medicine, clinical genomics, gene therapies, precision medicine, and clinical trials. The journal publishes original research, methods, software, and reviews to serve authors and promote broad interest and importance in the field.
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