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

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-11-19 DOI:10.1007/s12687-024-00752-5
Thais C de Oliveira, Iscia Lopes-Cendes
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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.

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巴西的人口分子遗传学:从基因组数据库和研究到精准医疗的实施。
精准医疗(PM)即将彻底改变全世界的医疗实践,在提高患者治疗效果方面潜力巨大。然而,其实际实施,特别是在资源有限的国家,并非没有挑战。PM 的成功在很大程度上取决于大量数据集的可用性,包括基因和基因组信息。本文深入探讨了 PM 的现状以及巴西基因和基因组检测的现状。我们还阐明了巴西多样化人口所带来的独特挑战,并讨论了为解决这些障碍而正在采取的举措。
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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.
期刊最新文献
Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine. Knowledge and perception of medical students on genetics in the genomic era. Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review. Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry. Factors influencing pregnant women's decision to accept or decline prenatal screening and diagnosis - a qualitative study.
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