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拉丁美洲遗传咨询专业协会(SPLAGen)的作用:推动拉丁美洲的遗传咨询发展。

The role of the Latin American Professional Society of Genetic Counseling (SPLAGen): Advancing genetic counseling in Latin America.

作者信息

Diaz Caro D, Simone L

机构信息

Columbia University Department of Neurology, Columbia University Irving Medical Center, New York.

Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey.

出版信息

Genet Med Open. 2024 Jul 16;2(Suppl 2):101870. doi: 10.1016/j.gimo.2024.101870. eCollection 2024.

DOI:10.1016/j.gimo.2024.101870
PMID:39712963
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11658548/
Abstract

The increasing importance of genomics and its expanding clinical application underscore the significance of genetic counseling in disseminating this vital information. In many countries, including regions of Latin America and the Caribbean, there is a shortage of adequately trained genetics providers thus limiting access to these essential services. Moreover, providers practicing genetic counseling are scarce and experience a lack of professional support. To address these challenges, the Latin American Professional Society of Genetic Counseling (SPLAGen, for its Spanish and Portuguese abbreviation) was established with the objective to increase awareness of and access to genetic counseling services in the region. Through this commentary, we aim to provide insights into the formation and organizational structure of SPLAGen, outlining our impactful work, as well as the current and future obstacles we foresee in our endeavor. SPLAGen's efforts aim to serve as a critical step toward bridging the gap in genetic counseling services and promoting better health care outcomes for patients living in Latin America and the Caribbean.

摘要

基因组学日益重要及其临床应用不断扩展,凸显了遗传咨询在传播这一重要信息方面的重要性。在包括拉丁美洲和加勒比地区在内的许多国家,缺乏训练有素的遗传学服务提供者,从而限制了人们获得这些基本服务的机会。此外,从事遗传咨询的服务提供者稀缺,且缺乏专业支持。为应对这些挑战,拉丁美洲遗传咨询专业协会(西班牙语和葡萄牙语缩写为SPLAGen)成立,其目标是提高该地区对遗传咨询服务的认识并增加获得此类服务的机会。通过这篇评论文章,我们旨在深入介绍SPLAGen的组建和组织结构,概述我们卓有成效的工作,以及我们在努力过程中预见的当前和未来障碍。SPLAGen的努力旨在成为弥合遗传咨询服务差距、为拉丁美洲和加勒比地区患者促进更好医疗保健结果的关键一步。

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