Building a National Policy for Rare Disease in Brazil.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-09-26 DOI:10.1007/s12687-024-00732-9
Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz
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Abstract

Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000. In this review the environment that led to the publication of a National Policy for Comprehensive Care for People of Rare Disease in 2014, a national plan with the aim to decrease morbidity and mortality of RD, improving the care of people with RD in the public health system are described. The process that finally led to such policy took over a decade, moving forward not only due to technical needs, but having patient organizations as essential actors and advocates. Specialized centers in RD were licensed and, since its publication, 33 centers have been accredited; such process, however, has been slow and concentrated in specific regions and larger cities of the country. Despite the incorporation of genetic tests in 2014 and exome sequencing later in 2020, many genetic tests are not offered by specialized centers, with unequal availability across the country. Public health system in Brazil uses ICD-10 for disease coding, preventing appropriate epidemiologic knowledge of RD in Brazil. Incorporation of new technologies as orphan drugs has been in place and regulation for expedite licensing for new RD drugs were issued, although high cost and availability to RD population has been a challenge.

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在巴西制定国家罕见病政策。
罕见病(RD)是一种个人罕见的疾病,但在人口中占很大比例,不仅影响个人,还影响其家庭。在巴西,卫生部将罕见病定义为每 10 万人中有 65 人患病,或每 2,000 人中有 1.3 人患病的疾病。本综述介绍了 2014 年发布《罕见病患者全面护理国家政策》的环境,该国家计划旨在降低 RD 的发病率和死亡率,改善公共卫生系统对 RD 患者的护理。最终形成这一政策的过程历时十余年,不仅是由于技术需要,而且患者组织也是重要的参与者和倡导者。RD 专业中心获得了许可,自该报告发布以来,已有 33 家中心获得了认证;然而,这一过程进展缓慢,且集中在国内特定地区和较大的城市。尽管在 2014 年纳入了基因检测,并在 2020 年晚些时候纳入了外显子组测序,但许多基因检测并不是由专业中心提供的,全国各地提供的基因检测并不均衡。巴西的公共卫生系统使用 ICD-10 进行疾病编码,因此无法适当了解巴西的 RD 流行病学情况。巴西已将新技术纳入孤儿药,并颁布了加快 RD 新药许可的法规,但高昂的成本和 RD 患者的可用性一直是个挑战。
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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.
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