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[临床遗传学普及面临的挑战:巴西的情况]

[Challenges for the universalization of clinical genetics: the Brazilian case].

作者信息

Novoa Maria Concepción, Burnham Teresinha Fróes

机构信息

Faculdade de Educação, Universidade Federal da Bahia, Salvador, BA, Brasil.

出版信息

Rev Panam Salud Publica. 2011 Jan;29(1):61-8. doi: 10.1590/s1020-49892011000100010.

DOI:10.1590/s1020-49892011000100010
PMID:21390422
Abstract

The present article deals with the difficulties of introducing medical genetics as part of the Brazilian public Unified Health System (SUS). A national policy of comprehensive care in medical genetics was established in 2009, having genetic counseling as a central pillar. However, there are strategic limitations to the implementation of this policy: a dearth of genetic counseling training programs, the lack of knowledge concerning the number of professionals available to provide genetic counseling, and the likely low number of professionals available for the job. A joint effort by the ministries of health and education is desirable to foster genetics and genetic counseling training for all health professions. In addition, genetics must be introduced in government programs such as the Family Health Program (Saúde da Família), a measure that would allow a mapping of the incidence of genetic diseases in the country and the implementation of genetic counseling despite the size of the territory and the population heterogeneity. Lastly, the introduction of medical genetics as part of the SUS depends on the engagement of medical and nonmedical professionals in horizontal teamwork, with a change in the hierarchy that has traditionally been at the foundations of health care.

摘要

本文探讨了将医学遗传学纳入巴西公共统一卫生系统(SUS)的困难。2009年制定了一项医学遗传学综合护理国家政策,将遗传咨询作为核心支柱。然而,该政策的实施存在战略局限性:遗传咨询培训项目匮乏,对可提供遗传咨询的专业人员数量缺乏了解,且可能从事该工作的专业人员数量较少。卫生部和教育部需要共同努力,为所有卫生专业人员培养遗传学和遗传咨询方面的能力。此外,必须将遗传学纳入政府项目,如家庭健康计划(Saúde da Família),这一举措将有助于绘制该国遗传病发病率图谱,并实施遗传咨询,而不受地域面积和人口异质性的影响。最后,将医学遗传学纳入SUS取决于医学和非医学专业人员参与横向团队合作,以及改变传统上作为医疗保健基础的等级制度。

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