中东和北非地区选定国家应对遗传疾病负担的干预措施：一项范围综述
Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review.
作者信息
Grant Madison, Kabakian-Khasholian Tamar, Yazbek Soha
机构信息
Faculty of Health Sciences, American University of Beirut, Beirut, Lebanon.
Department of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
出版信息
J Community Genet. 2023 Feb;14(1):29-39. doi: 10.1007/s12687-023-00633-3. Epub 2023 Jan 24.
BACKGROUND
The MENA region is disproportionately affected by genetic disease. The aim of this research is to scope the region for evidence of genetic services and public health interventions to identify geographic gaps, and to provide a descriptive overview of interventions to identify knowledge gaps.
METHODS
This study is conducted as a scoping review and follows the Arksey & O'Malley scoping review framework.
RESULTS
Seventy-six articles spanning 16 MENA nations met inclusion criteria. Studies included interventions in the form of genetic service provision (n=28), as well as comprehensive programs including pilot programs (n=7), community-based genetics programs (n=6) national-level prevention programs (n=18), and national-level mandatory programs (n=17).
CONCLUSIONS
There is an imbalanced response to genetic disease burdens across the MENA region. More research is warranted where interventions are scarce, particularly to inform development of pilot community-based programs. There is also a need for better monitoring and evaluation of existing nation-wide programs.
背景
中东和北非地区受遗传疾病影响的程度尤为严重。本研究旨在对该地区进行考察，寻找遗传服务和公共卫生干预措施的证据，以确定地理差距，并对干预措施进行描述性概述，以找出知识差距。
方法
本研究作为一项范围综述进行，并遵循阿克西和奥马利的范围综述框架。
结果
来自16个中东和北非国家的76篇文章符合纳入标准。研究包括以提供遗传服务形式的干预措施（n = 28），以及综合项目，包括试点项目（n = 7）、社区遗传项目（n = 6）、国家级预防项目（n = 18）和国家级强制项目（n = 17）。
结论
中东和北非地区对遗传疾病负担的应对存在不平衡。在干预措施稀缺的地方，需要开展更多研究，特别是为基于社区的试点项目的发展提供信息。还需要对现有的全国性项目进行更好的监测和评估。
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