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巴西的群体分子遗传学:从基因组数据库与研究到精准医学的实施。

Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine.

作者信息

de Oliveira Thais C, Lopes-Cendes Iscia

机构信息

Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas - UNICAMP, Tessália Vieira de Camargo, 126. Cidade Universitária "Zeferino Vaz", Campinas, SP, 13083-888, Brazil.

The Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, Brazil.

出版信息

J Community Genet. 2024 Nov 19. doi: 10.1007/s12687-024-00752-5.

Abstract

Precision medicine (PM) stands on the brink of revolutionizing medical practice throughout the world, holding significant potential for enhancing patient outcomes. However, its practical implementation, particularly in resource-limited countries, is not without challenges. The success of PM largely hinges on the availability of extensive datasets, including genetic and genomic information. This paper delves into the PM landscape and the current state of genetic and genomic testing in Brazil. We also shed light on the unique challenges posed by the country's diverse population and discuss ongoing initiatives to tackle these obstacles.

摘要

精准医学(PM)正处于彻底改变全球医疗实践的边缘,在改善患者治疗效果方面具有巨大潜力。然而,其实际应用,尤其是在资源有限的国家,并非没有挑战。精准医学的成功很大程度上取决于大量数据集的可用性,包括遗传和基因组信息。本文深入探讨了巴西的精准医学现状以及遗传和基因组检测的当前状况。我们还阐明了该国多样化人口所带来的独特挑战,并讨论了为应对这些障碍而正在开展的举措。

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