基因组学和精准医学:分子诊断创新塑造卡塔尔医疗保健的未来

IF 1.7 Q3 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH
Nader I. Al-Dewik, M. Qoronfleh
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引用次数: 12

摘要

基因组学研究和辅助技术的空前发展正在医疗保健领域和生命科学领域创造惊人变化的潜力。创新的基因组学应用包括:(1)在临床诊断环境中采用下一代测序(NGS)(应用全基因组和外显子组测序),(2)单细胞测序研究,(3)量化基因表达变化(包括全转录组测序),(4)药物基因组学,以及(5)无细胞DNA血液检测。这篇小型综述描述了临床基因组学颠覆性创新对医疗保健系统的影响,以提供更好的诊断和治疗。观察到的发展并不局限于即时护理服务。基因组学技术的突破正在推动医疗保健环境朝着个性化医疗保健的真正潜力,以实现更好的健康。在本文中,我们将简要讨论海湾地区基于人群的基因组计划,这些计划旨在通过为个人提供更好的预防、诊断和治疗(精准医学)来改善个性化医疗保健。卡塔尔在基因组医学方面的努力将得到强调,包括私营的应用生物医学倡议(ABI)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genomics and Precision Medicine: Molecular Diagnostics Innovations Shaping the Future of Healthcare in Qatar
Unprecedented developments in genomics research and ancillary technologies are creating the potential for astonishing changes in both the healthcare field and the life sciences sector. The innovative genomics applications include the following: (1) embracing next generation sequencing (NGS) in clinical diagnostics setting (applying both whole genome and exome sequencing), (2) single cell sequencing studies, (3) quantifying gene expression changes (including whole transcriptome sequencing), (4) pharmacogenomics, and (5) cell-free DNA blood-based testing. This minireview describes the impact of clinical genomics disruptive innovations on the healthcare system in order to provide better diagnosis and treatment. The observed evolution is not limited to the point-of-care services. Genomics technological breakthroughs are pushing the healthcare environment towards personalized healthcare with the real potential to attain better wellbeing. In this article, we will briefly discuss the Gulf region population-based genome initiatives that intend to improve personalized healthcare by offering better prevention, diagnosis, and therapy for the individual (precision medicine). Qatar’s endeavor in genomics medicine will be underscored including the private Applied Biomedicine Initiative (ABI).
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来源期刊
Advances in Public Health
Advances in Public Health Medicine-Public Health, Environmental and Occupational Health
CiteScore
4.60
自引率
0.00%
发文量
27
审稿时长
18 weeks
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