Clinical Genetics in Developing Countries: The Case of Brazil

Abstract

There are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually take precedence over genetic diseases and birth defects among medical professionals and public health officials. This is so in spite of the fact that the global prevalence of these conditions seems higher than in the developed world and that limited resources enhance the burden on individuals, families and populations. Furthermore, as a consequence of recent advances in medical genetics, demand for genetic services has increased, reinforcing the need for programs for the management and prevention of genetic diseases and birth defects, especially at primary health care level. An overview of these issues in Brazil is presented here, with information on the health system, the evolution of medical and clinical genetics in the country, and the situation of medical and clinical genetic services. We discuss proposals for implementing appropriate, ethically acceptable and equitable clinical genetic services for the Brazilian population.

Genetic services and testing in Brazil

“…The distribution is irregular, since in South region the white population reaches 84 %, while it is 62 % in the Southeast. Inversely, there are most pardos or mixed color people in the population of North (63.5 %) and Northeast (59.8 %) regions (IBGE 2010;Marques-de-Faria et al 2004).…”

“…However, the access to these services is limited. Although some of them are partly financed by the SUS, medical genetic services lack the organization as a network and are not fully and officially integrated to the national health system (Marques- de-Faria et al 2004).…”

“…The availability of diagnostic exams for genetic diseases follows similar distribution logic as the medical genetic services in Brazil, being uneven, with higher concentration in the South-Center region and with a variable complexity range (Marques-de-Faria et al 2004;Horovitz 2003). Presently, there is no logical referenced flow for diagnostic tests, although clinical services around the country send and receive samples based on informal agreements between them.…”

Ethical issues in genetics and public health in Latin America with a focus on Argentina

“…Departments of health in the public sector at the city, provincial and national levels have not risen to the challenge of formulating and implementing policies and programmes in genetic services, except for newborn screening, which is mandated by national law (Penchaszadeh 2004), and has better coverage than other programmes. Notable exceptions are Cuba and Brazil, which have national health-care systems with genetic services as an integral component (Lantigua-Cruz 2013;Marques-de-Faria et al 2004). …”

Qualificação e provimento de médicos no contexto da Política Nacional de Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde (SUS)

“…As health indicators improve, genetic diseases and congenital defects account for a larger proportion of deaths among children [3][4][5] . The impact of congenital defects is particularly noticed when child mortality rates reach figures below 40 per 1,000 6 .…”