Centro de Genetica Medica, Instituto Nacional de Saude da Mulher, da Criança e do Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, RJ, Brazil.
Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, RS, Brazil.
Genes (Basel). 2024 Jul 24;15(8):973. doi: 10.3390/genes15080973.
Brazil is a continent-size country with 203 million inhabitants, classified as a developing upper-middle-income country, although inequities remain significant. Most of the population is assisted by the public Unified Health System (SUS), along with a thriving private health sector. Congenital malformations are the second leading cause of infant mortality and chronic/genetic disorders and a significant burden in hospital admissions. The past two decades have been crucial for formalizing medical genetics as a recognized medical specialty in the SUS, as well as for implementing a new health policy by the Ministry of Health for comprehensive care for rare diseases. These public health policies had the broad support of the Brazilian Society of Medical Genetics and Genomics and patient organizations. Most comprehensive genetic services are concentrated in large urban centers in the South and Southeast regions of Brazil; with this new policy, new services throughout the country are progressively being integrated. The number of medical geneticists increased by 103% in a decade. Details on the policy and an overview of the availability of services, testing, human resources, newborn screening, research projects, patient organizations, and relevant issues regarding medical genetics in this vast and diverse country are presented.
巴西是一个拥有 2.03 亿居民的大陆大小的国家，被归类为发展中高收入国家，尽管不平等现象仍然显著。大多数人口由公共统一卫生系统（SUS）提供帮助，同时还有一个繁荣的私人医疗部门。先天性畸形是婴儿死亡的第二大主要原因，也是慢性/遗传疾病的重要负担，并导致大量住院。在过去的二十年中，巴西规范医学遗传学作为 SUS 认可的医学专业以及卫生部为罕见病提供全面护理实施新卫生政策至关重要。这些公共卫生政策得到了巴西医学遗传学和基因组学学会以及患者组织的广泛支持。大多数综合遗传服务集中在巴西南部和东南部的大城市中心; 随着这项新政策的实施，全国各地的新服务正在逐步整合。在十年内，医学遗传学家的数量增加了 103%。本文介绍了该政策的细节以及服务、检测、人力资源、新生儿筛查、研究项目、患者组织的可用性概述，以及这个幅员辽阔、多样化国家在医学遗传学方面的相关问题。
