Document Detail


Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil.
MedLine Citation:
PMID:  23338802     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
A X Acosta; K Abé-Sandes; R Giugliani; A H Bittles
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-22
Journal Detail:
Title:  Journal of genetic counseling     Volume:  -     ISSN:  1573-3599     ISO Abbreviation:  J Genet Couns     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206865     Medline TA:  J Genet Couns     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Bahia School of Medicine, Federal University of Bahia, Salvador, BA, Brazil, axacosta@hotmail.com.
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