Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil
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GENETIC COUNSELING: A GLOBAL PERSPECTIVE
Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil A. X. Acosta & K. Abé-Sandes & R. Giugliani & A. H. Bittles
Received: 7 October 2012 / Accepted: 1 January 2013 # National Society of Genetic Counselors, Inc. 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. Keywords Genetic education . Genetic counseling . Rare diseases . Founder effect . Endogamy . Consanguinity . MPS VI
Introduction A. X. Acosta Bahia School of Medicine, Federal University of Bahia, Salvador, BA, Brazil A. X. Acosta : K. Abé-Sandes : R. Giugliani National Institute of Population Medical Genetics – INAGEMP, Porto Alegre, Brazil A. X. Acosta : A. H. Bittles Centre for Comparative Genomics, Murdoch University, Perth, Australia K. Abé-Sandes Brazil State University of Bahia, Salvador, BA, Brazil R. Giugliani Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil
By global standards Brazil is a huge country with a land area of 8.54 million km2 and a population of 194.3 million, which makes it both the largest country in Latin America and the fifth most populous country world-wide. As summarized in Table 1, in economic and health terms Brazil is a middle ranked country with an adult literacy rate of 88.6 %, a mean annual per capita income of US$11,000, and 84 % of its population living in urban centers. The introduction of birth control programs by the Federal Government in the 1990s resulted in a marked slowing of the annual population growth rate, and the total fertility rate is now 1.9, i.e. below the replacement rate. However, in terms of its age profile Brazil remains a young country, with 25 % of the population under 15 years and just 7 % over 65 years (PRB 2012).
A. H. Bittles School of Medical Sciences, Edith Cowan University, Perth, Australia
Health Care in Brazil A. X. Acosta (*) Hospital Universitário Professor Edgar Santos, Serviço de Genética Médica, Av Augusto Viana, s/n, 6ª andar, Canela,
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