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Updated: Jun 3, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Challenges for the universalization of clinical genetics: the Brazilian case]
Maria Concepción Novoa1, Teresinha Fróes Burnham
1Faculdade de Educação, Universidade Federal da Bahia, Salvador, BA, Brasil. novoabr@yahoo.com
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.
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