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古巴的遗传咨询概述。

An overview of genetic counseling in Cuba.

作者信息

Cruz Araceli Lantigua

机构信息

National Center of Medial Genetics, University of Medical Sciences of Havana, Havana, Cuba,

出版信息

J Genet Couns. 2013 Dec;22(6):849-53. doi: 10.1007/s10897-013-9635-x. Epub 2013 Aug 11.

DOI:10.1007/s10897-013-9635-x
PMID:23934326
Abstract

This brief report provides an overview of the history and current status of genetic services in Cuba. In 1971, the University of Medical Sciences of Havana began to train doctors in medical genetics according to the medicine development plan in Cuba. With the aim of introducing genetic services to the population, two main issues were identified: the impact of neural tube defects as a cause of infantile mortality, and a founder effect resulting in a high frequency of sickle cell anemia, which increased the mortality rate and impacted the quality of peoples' lives. The impact of consanguinity is variable; it depends on the isolation of the population, with rates of 1 to 11% in different regions for first and second cousin marriages. From 1981, the services of medical genetics began to expand to the entire country, according to a government directive, and the need to design a program for the specialty became evident. From 1995 to 2000, two Masters-level programs were designed by professors of the Department of Medical Genetics, University of Medical Sciences of Havana, and authorized by the Ministry of Higher Education. One program in medical genetics was designed for physicians with other specialties, and the second program was designed to train professionals to become genetic counselors. The majority of graduates from the latter program are working at the primary level of healthcare.

摘要

本简要报告概述了古巴遗传服务的历史和现状。1971年,哈瓦那医学科学大学开始根据古巴的医学发展计划培训医学遗传学医生。为了向民众提供遗传服务,确定了两个主要问题:神经管缺陷作为婴儿死亡原因的影响,以及导致镰状细胞贫血高发病率的奠基者效应,这增加了死亡率并影响了人们的生活质量。近亲结婚的影响各不相同;这取决于人口的隔离情况,不同地区表亲及堂亲结婚的比例在1%至11%之间。从1981年起,根据政府指令,医学遗传学服务开始在全国范围内扩展,设计该专业项目的必要性变得明显。1995年至2000年,哈瓦那医学科学大学医学遗传学系的教授设计了两个硕士层次的项目,并获得了高等教育部的批准。一个医学遗传学项目是为具有其他专业背景的医生设计的,第二个项目旨在培养专业人员成为遗传咨询师。后一个项目的大多数毕业生在初级医疗保健机构工作。

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本文引用的文献

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Epidemiology of prenatal genetic and environmental factors of mental retardation in cuba.古巴精神发育迟滞的产前遗传和环境因素的流行病学
MEDICC Rev. 2008 Jan;10(1):29-36. doi: 10.37757/MR2008.V10.N1.9.
2
Generating Appropriate Technologies for Health Equity: José Luis Fernéndez Yero, MD, PhD. Director, Immunoassay Center, Havana.为健康公平生成适当的技术:José Luis Fernéndez Yero,医学博士,免疫分析中心主任,哈瓦那。
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Cuba's National Medical Genetics Program.古巴国家医学遗传学计划。
精神分裂症遗传咨询中的伦理原则、挑战与机遇
Front Psychiatry. 2023 Jun 21;14:1040026. doi: 10.3389/fpsyt.2023.1040026. eCollection 2023.
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The Global State of the Genetic Counseling Profession.全球遗传咨询专业状况。
Eur J Hum Genet. 2019 Feb;27(2):183-197. doi: 10.1038/s41431-018-0252-x. Epub 2018 Oct 5.
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Translating genomics: cancer genetics, public health and the making of the (de)molecularised body in Cuba and Brazil.翻译基因组学:古巴和巴西的癌症遗传学、公共卫生与(去)分子化身体的形成
Hist Cienc Saude Manguinhos. 2016 Jan-Mar;23(1):95-112. doi: 10.1590/S0104-59702016000100007.
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Components of genetic counsellor education: A systematic review of the peer-reviewed literature.遗传咨询师教育的组成部分:对同行评审文献的系统综述
J Community Genet. 2016 Apr;7(2):107-18. doi: 10.1007/s12687-015-0255-z. Epub 2015 Oct 9.
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SCA2 predictive testing in Cuba: challenging concepts and protocol evolution.古巴的SCA2预测性检测:具有挑战性的概念与方案演变
J Community Genet. 2015 Jul;6(3):265-73. doi: 10.1007/s12687-015-0226-4. Epub 2015 Apr 19.
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Ethical issues in genetics and public health in Latin America with a focus on Argentina.拉丁美洲遗传学与公共卫生领域的伦理问题,重点关注阿根廷。
J Community Genet. 2015 Jul;6(3):223-30. doi: 10.1007/s12687-015-0217-5. Epub 2015 Feb 10.
MEDICC Rev. 2009 Jan;11(1):11-3. doi: 10.37757/MR2009V11.N1.6.
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Annu Rev Genomics Hum Genet. 2004;5:219-65. doi: 10.1146/annurev.genom.5.061903.175935.