Introduction

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).

Table 1 Brazil: demographic and health summary profile 2012
Full size table

Health Care in Brazil

The majority of the population is served by the public Unified Health System (Sistema Único de Saúde or SUS), which was established by the Federal Government in 1988 to ensure equitable access to health for all citizens and is one of the largest public health systems in the world (Brazil 1990). SUS is organized on a municipal basis, with management provided at state level and financial support from the Federal Ministry of Health. Health expenditure in Brazil in 2007 comprised 8.4 % of Gross Domestic Product (WHO 2010), with 1.84 medical practitioners and 2.26 hospital beds per 1,000 of the population (IBGE 2009).

The most recent available national statistics indicate neonatal, infant and under-5 year deaths rates of 11/1,000, 20/1,000 and 22/1,000 respectively, while non-communicable diseases now account for 74 % of deaths (Table 1). The shift to a non-communicable disease profile in Brazil also is reflected in the reported causes of early mortality. In 1980, 38 % of infant mortality was ascribed to perinatal causes, with congenital anomalies listed as the fifth most common cause of death and responsible for just 5 % of total mortality in the first year of life. Given proportional reductions in infectious, nutritional, and respiratory diseases, by 2000 congenital malformations had become the second most common cause of death in children under 1 year of age and represented 13 % of the total infant deaths, and by 2006 mortality due to congenital defects had increased to 16.3 % of all infant deaths (Brazil 2010).

Ethnicity of the Brazilian Population

A question on ethnicity was included in the 2000 Census of Brazil, with the options of White, Black, Pardo (mixed color or race; mulatto or mestizo), Asiatic, and Native Brazilian Indian. Of those who responded, 54.0 % self-declared as White, while 39.9 % were Pardos, 5.4 % Black, 0.5 % Asiatic, and 0.2 % Native Indians. Persons of African ancestry, represented by those who self-declared as Black or Pardo were mainly resident in the North (69.0 %) and Northeast (65.8 %), whereas the highest percentages of Whites were located in the Southeast (62.4 %) and South (83.6 %) regions of the country (IBGE 2000).

Medical Genetics Services in Brazil

Most Brazilians do not have access to medical genetic services, as the majority of these services are concentrated in tertiary centers located in the most developed Southeast and South regions of the country. A number of institutions have sophisticated laboratory infrastructures and offer diagnostic testing, including cytogenetic and molecular genetic analyses. Specialists in medical genetics tend to aggregate within the major service centers located in the Center-South of the country, which in practice means that a majority of Brazilian states have few or no resident trained professionals in clinical genetics (Horovitz et al. 2012).

Since access to specialist medical genetics services has been limited, the establishment of regional genetic services and the promotion of genetics within primary care were identified as priority health issues (Marques-de-Faria et al. 2004; Penchaszadeh 2004). In response, the Federal government formulated a national policy for the provision of comprehensive clinical genetics services, which included both specialist medical genetics centers and the inclusion of genetics in primary care programs (Brazil 2009). In the latter setting the policy provides for the identification and follow-up of families with congenital anomalies and genetically determined diseases, but this initiative has yet to be implemented.

Medical Genetics Training

By comparison with other clinical specialities, Medical Genetics is a relatively young branch of medicine in Brazil with Board Certification in Medical Genetics the responsibility of the Brazilian Society of Medical Genetics (Sociedade Brasileira de Genética Médica, SBGM). Eleven postgraduate residency programs each of 3 years’ duration have been approved by the National Medical Residency Committee (Comissão Nacional de Residência Médica 2006), all co-located with specialist laboratory services in the Center-South of the country (Secretaria de Educação Superior 2009). Professional accreditation in Medical Genetics also can be awarded to practitioners in other medical disciplines, e.g. Pediatrics, subject to approval by the Brazilian Society of Medical Genetics, and by the Brazilian Medical Association which is regulated by the Federal Council of Medicine. During the last 30 years a combined total of some 200 physicians have been awarded Board Certification in Medical Genetics through one or other of these pathways.

Genetic Counselors

Although health professionals from many backgrounds are involved in providing genetic services in Brazil, the profession of Genetic Counselor is not formally recognized and so the provision of genetic counseling is almost exclusively restricted to physicians. However, many groups, centers and services coordinated by physicians offer informal, non-accredited training programs in genetic counseling to health care professionals drawn from a range of different health disciplines, mainly nursing and psychology (Brunoni 2002). Prior to a medical genetics consultation, clients may be interviewed by a non-physician, most commonly health professionals with a psychology background, who provide information on the investigations that may be undertaken as part of their diagnosis and treatment.

Genetic Education and Genetic Counseling for Inherited Disorders in a Rural Setting

Given the concentration of medical genetics resources in the Center-South of the country, specific problems in dealing with inherited disorders in less privileged rural communities commonly are encountered. As an example, the inland municipality of Monte Santo is located in the state of Bahia, northeast Brazil, some 350 km from Salvador the state capital. According to the 2010 Census of Brazil the total population of Monte Santo was 52,338, 20 % of whom lived in the town of Monte Santo itself while 80 % were resident in the approximately 200 villages located within the municipality. The population sizes of these villages ranged from 113 to 582 individuals.

The municipality of Monte Santo is poor by comparison with the Brazilian national average (Table 1), with a mean annual per capita income of just US$1,403 and 66 % adult literacy, and it is served by a single general hospital with 60 beds (IBGE 2010). Monte Santo was established mainly by Portuguese settlers at the end of the 18th century but the population is known to have substantial Native Brazilian Indian and African admixture, and in the 2010 Census respondents self-identified as 37.6 % White, 57.2 % Pardo, and 5.2 % Black (IBGE 2011).

A cluster of cases of mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) was provisionally identified in Monte Santo, but there was no information on the prevalence of the disorder, which in other parts of the world is regarded as rare with reported incidence rates ranging from 1/43,261 in Turkey to 1/1.51 million births in Sweden (Valayannopoulos et al. 2010). To investigate the feasibility of establishing genetic services in this generally under-provided and geographically isolated community, in 2006 a preliminary scoping visit to Monte Santo was arranged to meet with the local civil authorities, medical staff and local residents. Following this visit a multidisciplinary project Genetics in the Sertão (in Brazil the term sertão means the rural hinterland) was initiated as a partnership between public and private institutions. The aim of the project was to create a coordinated genetic education, genetic counseling, treatment and screening program for inherited disorders in the community as a whole, with oversight provided by a multidisciplinary team of health care professionals, including clinical geneticists.

It soon became obvious that the prevalence of MPS VI in Monte Santo was indeed high with nine living and four recently deceased cases identified in 11 nuclear families, and genomic analysis showed that all affected persons were homozygous for the p.H178L mutation in the arylsulfatase B (ARSB) gene (Costa-Motta et al. 2011). The data therefore strongly suggested the expression of a founder mutation, maintained and spread through intra-community and intra-familial marriage and resulting in a present-day MPS VI prevalence of 1/5,000. The Genetics in the Sertão project was established as an ongoing, community-based service program on the basis of these results, and in the knowledge that other inherited disorders including non-syndromic deafness, phenylketonuria and congenital hypothyroidism also appeared to have an increased prevalence in the Monte Santo community.

Genetic Education

The Community Health Agents Program was established in Brazil in 1991 as part of the Family Health Program. The Program is seen as an important facet of primary health care strategy, with community health agents (CHA) trained to identify, refer, guide and follow-up families in their community (Brazil 2000). Under Brazilian law CHA are required to have completed a minimum of 8 years education, and in Monte Santo many have undertaken additional formal training in nursing or in other health-related disciplines.

As part of the Genetics in the Sertão initiative in Monte Santo, lectures and workshops in medical genetics and assessments of their training are regularly organized for the CHA by visiting clinical geneticists. In these sessions information is provided and exchanged on the diseases thought to be most prevalent in the community, the importance of early disease recognition and diagnosis, instruction on eliciting relevant information from families, and advice on how best to access medical assistance and treatment. As community members, and through their monitoring of the overall health of the population and the identification of possible new disease cases, the involvement of the CHA is fundamental to the success of the Genetics in the Sertão program.

Genetic Counseling and Carrier Testing

Genetic education and genetic counseling on the effects of a disorder such as MPS VI are provided to at-risk individuals and families in Monte Santo by a multi-disciplinary out-reach team comprising clinical geneticists, biomedical scientists and a psychologist. These individuals normally are based in the Medical Genetics Service of the University Hospital/UFBA, in Salvador, the state capital of Bahia. Team members also conduct lectures and workshops at a community level, to explain the nature of genetic diseases and the possible implications of family testing. In families with an affected member multi-generation pedigrees are constructed as part of the genetic counseling consultation, subject to the prior approval of family members and on the basis of the information they provide.

Because of the highly endogamous nature of the Monte Santo population, individuals thought to be carriers of the causative ARSB p.H178L mutation in MPS VI often appear in several pedigrees of nuclear families. Where pedigree analysis suggests that an individual may be at 50 % or 25 % risk of being a carrier for the p.H178L mutation a blood sample is requested for DNA testing, along with a sample from his/her partner and any children over 18 years of age. Before such a test is offered its possible implications are again explained, and formal permission to sample is separately obtained from each individual.

Treatment and Neonatal Screening

In the initial stages of the program patients with MPS VI had to travel weekly to Salvador to receive enzyme replacement treatment (ERT) with Galsufase, which necessitated a round trip of over 700 km. However, in April 2011 an ERT center for MPS VI was inaugurated at the municipal hospital of Monte Santo, where local doctors and nurses have been trained in the provision of treatment, with a clinical geneticist in regular attendance. As the early introduction of therapy appears to provide a better prognosis (McGill et al. 2010), a screening program for MPS VI was recently established for newborns in Monte Santo.

Conclusions

The experience gained in the Genetics in the Sertão program has proved invaluable to the population of Monte Santo, where in the past severe inherited disorders such as MPS VI were untreatable and represented a major health burden not only to individuals with the condition and their families but to the community as a whole. In more general terms Genetics in the Sertão has demonstrated the feasibility of establishing a program of this nature in an under-privileged and quite isolated rural population. Given equivalent levels of community support this is a lesson which is applicable to similar populations across Latin America and throughout the developing and middle income world. At the same time, because of the restricted numbers of clinical geneticists in Brazil, the size of the population, and the increasing burden imposed by non-communicable diseases, the introduction of formal postgraduate training programs in Genetic Counseling merits recognition as a major health priority.