Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil

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 i...

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Bibliographic Details
Published inJournal of genetic counseling Vol. 22; no. 6; pp. 830 - 834
Main Authors Acosta, A. X., Abé-Sandes, K., Giugliani, R., Bittles, A. H.
Format Journal Article
LanguageEnglish
Published Boston Springer US 01.12.2013
Blackwell Publishing Ltd
Subjects
Biomedical and Life Sciences
Biomedicine
Brazil
Clinical Psychology
Consanguinity
Endogamy
Ethics
Founder effect
Genetic Carrier Screening
Genetic Counseling
Genetic Counseling: A Global Perspective
Genetic education
Gynecology
Health education
Health Education - organization & administration
Human Genetics
Humans
Infant, Newborn
Medical disorders
MPS VI
Public Health
Rare Diseases
Rural Health Services - organization & administration
Rare diseases
MPS VI
Genetic counseling
Endogamy
Genetic education
Consanguinity
Founder effect
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Summary: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.
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ISSN:1059-7700
1573-3599
DOI:10.1007/s10897-013-9570-x