Margarit Sonia B, Alvarado Mónica, Alvarez Karin, Lay-Son Guillermo
Center for Human Genetics, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Av. Las Condes 12438, Santiago, Chile, 7710162,
J Genet Couns. 2013 Dec;22(6):869-74. doi: 10.1007/s10897-013-9607-1. Epub 2013 Jun 7.
In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.
在南美洲国家智利，遗传咨询目前尚未被视为一门独立的临床学科，一般由接受过临床遗传学培训的医生提供此项服务。目前，在这个拥有1600多万人口的国家，仅有一名遗传咨询师和28名临床遗传学家从事相关工作。儿童畸形学是临床遗传学的主要业务领域。尽管该国拥有全民医疗保健系统且医疗保健水平较高，但遗传疾病并未被视为医疗保健的优先事项，且缺乏专门用于临床遗传学服务的临床和实验室资源。智利遗传咨询服务的发展面临着诸多教育、文化和经济障碍。然而，在过去十年中，人们越来越意识到识别遗传性癌症综合征高危个体的重要性，这使得对癌症遗传学实践的兴趣日益浓厚。
