突尼斯为精准医疗做好准备了吗?医疗基因组学在低收入国家医疗系统中面临的挑战。

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2024-08-01 Epub Date: 2024-07-31 DOI:10.1007/s12687-024-00722-x
Narjes Trabelsi, Houcemeddine Othman, Hafsi Bedhioufi, Hamza Chouk, Haïfa El Mabrouk, Marwa Mahdouani, Moez Gribaa, Ali Saad, Dorra H'mida
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引用次数: 0

摘要

作为精准医疗工作台上的重要工具之一,高通量基因检测在改善医疗成果方面大有可为。突尼斯在获取和在临床中实施该技术方面取得了巨大进步。然而,目前的使用情况并不能确保高通量基因组检测带来的全部益处,这阻碍了突尼斯迈入精准医疗新时代的能力。这一问题主要与突尼斯医疗生态系统的现状及其人口的社会属性有关,造成了许多必须应对的挑战。在本综述中,我们旨在确定并强调这些可能在其他中低收入国家普遍存在的挑战。从本质上讲,这些挑战可分为三大类,其中包括突尼斯的社会经济状况,这阻碍了公民参与精准医疗活动;医疗保健系统的当前设置缺乏或遗漏了成功实施精准医疗实践的关键要素;以及当前的基础设施和资源无法应对与基因组数据和元数据相关的各种挑战。我们还提出了五大支柱解决方案,作为应对所有这些挑战的框架,可加强突尼斯在当今临床环境中有效实施精准医疗的能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system.

As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for improving healthcare outcomes. Tunisia has made tremendous progress in acquiring and implementing the technology in the clinical context. However, current utilization does not ensure the whole range of benefits that high-throughput genomic testing provides which impedes the country's ability to move forward into the new era of precision medicine. This issue is primarily related to the current state of Tunisia's healthcare ecosystem and the sociological attributes of its population, creating numerous challenges that must be addressed. In the current review, we aimed to identify and highlight these challenges that may be prevalent in other low and middle-income countries. Essentially, they fall into three main categories that include the socio-economic landscape in Tunisia, which prevents citizens from engaging in precision medicine activities; the current settings of the healthcare system that lack or miss key components for the successful implementation of precision medicine practices; and the inability of the current infrastructure and resources to handle the various challenges related to genomic data and metadata. We also propose five pillar solutions as a framework for addressing all of these challenges, which could strengthen Tunisia's capability for effective precision medicine implementation in today's clinical environment.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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