Journal article
Delivering genetic education and genetic counseling for rare diseases in rural Brazil
Journal of Genetic Counseling, Vol.22(6), pp.830-834
2013
Abstract
Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland rural community located in the state of Bahia in Northeast Brazil, with high prevalences of a number of autosomal recessive genetic disorders, including non-syndromic deafness, phenyketonuria, congenital hypothyroidism and mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Genetic education, counseling and treatment are locally provided, with a neonatal screening program for MPSVI currently under trial.
Details
- Title
- Delivering genetic education and genetic counseling for rare diseases in rural Brazil
- Authors/Creators
- A.X. Acosta (Author/Creator)K. Abé-Sandes (Author/Creator)R. Giugliani (Author/Creator)A.H. Bittles (Author/Creator)
- Publication Details
- Journal of Genetic Counseling, Vol.22(6), pp.830-834
- Publisher
- Kluwer Academic Publishers/Plenum Publishers
- Identifiers
- 991005540721307891
- Copyright
- 2013 National Society of Genetic Counselors
- Murdoch Affiliation
- School of Engineering and Information Technology
- Language
- English
- Resource Type
- Journal article
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