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中东和北非地区的精准遗传与基因组医学:我们做到了吗?

Precision Genetic and Genomic Medicine in the Middle East and North Africa Region: Are We There Yet?

作者信息

Bilani Nadeem, Dagher Michael, Zgheib Nathalie K

机构信息

American University of Beirut Faculty of Medicine, Beirut, Lebanon.

出版信息

Public Health Genomics. 2017;20(3):149-157. doi: 10.1159/000473890. Epub 2017 May 6.

DOI:10.1159/000473890
PMID:28478447
Abstract

PURPOSE

As precision medicine continues its expansion into clinical practice and research settings, it is time to investigate genetic and genomic research in the Middle East and North Africa (MENA) region to identify the strengths and deficits and to provide suggestions for future development.

METHODS

We performed a literature review of any genetic or genomic publications on breast cancer and type 2 diabetes for the years 2000-2015 and evaluated the translational value of the research using multiple evaluation metrics, including the "continuum of translation" and the Health Impact Pyramid.

RESULTS

A total of 138 type 2 diabetes and 231 breast cancer publications were included. There were few cohort studies or randomized controlled trials, and there was a distinct lack of pharmacogenetic or pharmacogenomic papers. Most studies were not interventional but instead evaluated susceptibility, and when placed on the continuum of translation, more than 90% of the studies were T1.

CONCLUSION

This study suggests that the translational value of genetic and genomic research in the MENA region is currently suboptimal. Moving forward requires international cooperation and a collaborative cohort program in order to implement precision medicine in this area of the world.

摘要

目的

随着精准医学不断拓展至临床实践和研究领域,现在是时候对中东和北非(MENA)地区的遗传和基因组研究进行调查,以确定其优势与不足,并为未来发展提供建议。

方法

我们对2000年至2015年间有关乳腺癌和2型糖尿病的任何遗传或基因组出版物进行了文献综述,并使用多种评估指标,包括“转化连续体”和健康影响金字塔,评估了研究的转化价值。

结果

共纳入138篇2型糖尿病和231篇乳腺癌出版物。队列研究或随机对照试验很少,药物遗传学或药物基因组学论文明显缺乏。大多数研究并非干预性研究,而是评估易感性,并且当置于转化连续体中时,超过90%的研究属于T1阶段。

结论

本研究表明,中东和北非地区遗传和基因组研究的转化价值目前并不理想。未来需要国际合作和协作队列项目,以便在世界这一地区实施精准医学。

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