Original article written by Shannon Gunn, 2021. Updated by Lyndsey Fletcher, 2023.
In this week’s World of Genomics, we travel to the vibrant country of Brazil – home to the majority of the Amazon rainforest and one of the biggest carnivals in the world – Rio de Janeiro Carnival. While the history of genetics in Brazil is only relatively recent, improved infrastructure, funding and experience has enabled Brazil to better develop in the field of genomics compared to other South American regions. With both continued investment from within Brazil, as well as from countries abroad, Brazil is keeping up to date with genomic technology and in turn will hopefully provide novel insights into the great diversity that exists within this unique country.
The population of Brazil
The Federative Republic of Brazil is the largest country in both South America and Latin America. It is the fifth-largest and sixth-most populous country in the world. Brazil is one of the world’s most multicultural and ethnically diverse nations. The country is bordered to the north by French Guiana, Suriname, Guyana, Colombia and Venezuela in north, Peru, Bolivia, and Paraguay to the west, and Argentina and Uruguay to the south.
The first inhabitants of Brazil were native indigenous Indians. The Portuguese arrived in 1500, claiming Brazil for Portugal. During the Atlantic slave trade era, Brazil imported more enslaved Africans than any other country. In September 1822, the country declared its independence from Portugal, and it became the Empire of Brazil. Brazil’s unique environmental heritage makes it one of seventeen megadiverse countries and is the subject of significant global interest. It is also directly impacted by global issues like climate change and biodiversity loss.
In the 19th and 20th centuries Brazil experienced significant immigration. Settlers arrived from other Latin American nations, Europe and, notably, Japan. Between the first census in 1872 and the beginning of the 21st century, over 6 million documented migrants had found a home in Brazil.
Geographic and demographic information
- Land area: 8,515,767 km2
- Gross domestic product (GDP):
- Total: $3.598 trillion (2023)
- Per capita: $18,396 (2023)
- Population size: 214.3 million (2020)
- Birth rate: 13 per 1,000 (2020)
- Death rate: 7 per 1,000 (2020)
- Infant mortality rate: 13 per 1,000 (2021)
- Average life expectancy: 74 (2020)
- Female: 77 (2020)
- Male: 71 (2020)
- Ethnicity: The population of Brazil is very diverse. Brazilians generally trace their origins from three sources: Europeans, Amerindians and Africans. White Brazilians (Brancos) are the largest ethnic group forming 47.73% of the country’s population. White Brazilians are the citizens of Brazil with European descent. The second largest ethnic group is Pardo, which combines Brazilian natives, European and African ancestry (43.13%).
In 1988, the Brazilian Constitution defined health as a universal right. As a result, public healthcare is provided to all Brazilian permanent residents and foreigners in Brazilian territory through the National Healthcare System. This is known as the Unified Health System or Sistema Único de Saúde (SUS) in Portuguese. The SUS is universal and free for everyone and was established in 1990. Over the past few decades, the SUS has rapidly expanded to address the changing health needs of the population. Despite its successes, there is still an urgent need to address persistent geographical inequalities, insufficient funding and suboptimal private sector-public sector collaboration. In addition, in 2015, the effect of economic and political crises led to subsequent austerity measures being introduced by the current government. This led to major cuts in public investments, and in the health and education budgets. There are concerns that existing structural problems and disparities will worsen due to these measures, with the risk of reversing the achievements of SUS in improving population health outcomes.
Brazil has a historically good reputation for rolling out effective mass vaccination campaigns in response to public health threats. For example, millions of individuals were inoculated during the H1N1 pandemic. However, recent cuts to the healthcare budget saw a delayed start to the roll-out of COVID-19 vaccines in the nation. Despite this, by late-2021 nearly 90% of the population had been vaccinated, overtaking other, higher income, nations.
In 2020, the leading causes of death in Brazil were diseases of the circulatory system, mainly ischemic heart disease, followed by infectious and parasitic diseases and malignant neoplasms.
Dengue is found in all states of the country (with four viral serotypes). Despite incidences of malaria reducing, Brazil still has the highest number of cases in the region of the Americas. It is also one of the worst affected countries by COVID-19, just behind the US and India.
Brazil has prioritised six top areas, including hypertension, physical inactivity, blood pressure screening, hypercholesterolaemia, smoking and binge drinking. They also have one intermediate priority (i.e., overweight-obesity) for noncommunicable disease prevention.
In 2000, mortality rates among indigenous infants were more than triple that of the general population. Since then, Brazil has been among the 25 nations with the best improvement in survival rates for children under the age of five. Despite great improvements, several challenges still must be overcome. These largely include combatting poverty, reducing vulnerability and improving quality of life.
The nation is also facing the problem of an ageing population, with over a fifth of the population expected to be over the age of 65 by 2050. This highlights a growing need for better care for the elderly.
Like many other countries, obesity in Brazil is a growing health concern. In 2018, 35% of Brazilians were obese. In 2021, the Ministry of Health launched an initiative called the Brazilian Strategy for Prevention and Attention to Childhood Obesity. It promotes healthy eating and physical activity, and in 2022 the initiative won an award from the United Nations.
Genomic medicine capabilities
A lot of the early genetic research in Brazil was focussed on the study of Drosophila. The importance of genetics within the medical community was only recognised from around the 1960s onwards. The real turning point for Brazilian genomics occurred with the complete sequencing of Xylella fastidiosa, a citrus pathogen, in 2000.
Genetic services began within research settings and universities. Most clinical services are now located in State capitals, usually integrated within public universities and teaching hospitals. In the private setting, genetic tests are more readily available.
The use of molecular techniques has grown, with some groups implementing next-generation sequencing technologies. Nonetheless, their use for diagnosis has been challenged in many institutions due to the lack of funding.
Newborn screening became mandatory for some diseases in the 1990s, with SUS funding the tests needed for such procedures. It became formally established in 2001 by the Ministry of Health and became known as the National Newborn Screening Program (Programa Nacional de Triagem Neonatal – PNTN). The following diseases are included: phenylketonuria (PKU), congenital hypothyroidism (CH), SCD and other hemoglobinopathies, cystic fibrosis (CF), biotinidase deficiency (BD) and congenital adrenal hyperplasia (CAH).
Reproductive health is one of the areas strongly affected by structural inequalities. Abortion is illegal in Brazil, meaning only affluent Brazilian women have access to safe termination of pregnancy, while poor women’s fertility is often compromised by unsafe abortions. In a 2008 case, the Supreme Federal Court ruled that the right to life only applies to intrauterine embryos, and that frozen embryos, that are not eligible for a uterine transfer, do not hold fundamental rights and may be manipulated for research purposes. In 2012, the Supreme Court also authorised the practice of abortion on foetuses with anencephaly.
Cancer screenings are available to Brazilian individuals through the public healthcare system. However, the rates of uptake dropped during the COVID-19 pandemic, and have not yet recovered. In early 2022, it was announced that cancer screening would be expanded to reach more people living in Amazon river villages by using Navy ships containing mobile screening centres.
Genetic counselling services can be obtained at the Human Genome and Stem Cell Research Center in Sao Paulo, one of the only institutes in Latin America to offer this service. Other medical genetics specialists are disproportionally concentrated in urban areas, meaning those in rural communities are less able to access these services.
- The Brazilian Initiative on Precision Medicine (BIPMed): In 2015, the São Paulo Research Foundation created the BIPMed, with the aim of facilitating the implementation of precision medicine in Brazil. It is based on a software platform that will offer public access to genomic and phenotypic data.
- DNA do Brasil (DNABr): Initiated in 2018, the DNABr project aims to explore the genetic admixture of the Brazilian population to address key questions about health and population history. This will be achieved by generating reference genomes of the Brazilian population according to different allele frequencies.
- The ZiBRA project: The ZiBRA project (real-time sequencing of Zika virus in Brazil) aims to sequence a thousand genomes from Brazil to provide important epidemiological information about the spread of the Zika virus in Brazil.
- Genetics of Latin American Diversity (GLAD): GLAD is a database containing genomic data from Latin American individuals, with an aim to mitigate the lack of non-European representation in healthcare research. The database contains genetic data from over 54,000 people, including a significant number from Brazil.
- The Brazilian Rare Genomes Project: This project aims to further the implementation of genomic medicine in Brazil, and improve the lives of millions of individuals living with rare diseases. As of 2022, researchers had validated an effective whole genome sequencing method for diagnosis.
- WGS of Elderly Admixed Individuals: This project used whole genome sequencing to analyse genetic variants in over 1,700 elderly admixed Brazilians. The research identified a number of variants and mobile elements, allowing for a better understanding of the genetic profiles of admixed Latin Americans.
Notable organisations and companies
- The São Paulo Research Foundation (Fundação de Amparo à Pesquisa do Estado de São Paulo in Portuguese): FAPESP is a public foundation founded in 1962. Its aim is to provide grants, funds and programs to support research, education and innovation. It is an important institution for Brazilian science and its investment has been important in the field of genomics.
- Brazilian Society of Genetics (Sociedade Brasileira de Genética in Portuguese): SBG was founded in 1986 to help progress medical genetics in Brazil. Its goals include disseminating knowledge, supporting education and training, advising government agencies and guiding activities in the field of clinical genetics.
- Human Genome and Stem Cell Research Centre (HUG-CELL): HUG-CELL is the largest research centre in Latin America for human disease research. It is based at the University of Sao Paulo and places a significant emphasis on patient contribution to research. The centre carries out work not only in hereditary diseases, but also performs genomic surveillance for zoonotic illnesses such as zika and COVID-19.
- Crodowaldo Pavan (1919-2009): Pavan was a Brazilian biologist and geneticist, who was involved in pioneering research on the genetics, taxonomy and ecology of Drosophila. He also was among one of the first to prove that the structure of genes and chromosomes could be changed by infections. Pavan was very influential and became involved in the main development of science and technology in Brazil.
- Warwick Estevam Kerr (1922-2018): Kerr was an agricultural engineer, geneticist and entomologist, most known for his discoveries in the genetics and sex determination of bees.
- Mayana Zatz (1947-): Born in France, Zatz moved to Brazil with her family in 1955. She was interested in the study of muscular dystrophies and worked in genetic counselling with families who were affected by neuromuscular diseases.
- Oswaldo Frota-Pessoa (1947-2010): Frota-Pessoa was a physician, biologist and geneticist born in Rio de Janeiro. His main interests included the genetics of human populations, cytogenetics, medical genetics and genetic counselling, and genetics in psychiatry. He was also active in promoting public understanding of science.
- Newton Freire-Maia (1918-2003): Freire-Maia was a teacher, researcher and geneticist. He conducted in-depth studies on consanguineous marriages and was a pioneer in providing genetic counselling.
- Chana Malogolowkin-Cohen (1924-): Malogolowkin-Cohen is a pioneering Brazilian naturalist and geneticist. She was the first woman to have a PhD in Natural History in Brazil, the founder of the Brazilian Society of Genetics in 1955 and the first Brazilian woman to publish in the journal Science.
- Peter Medewar (1915-1987): Brazil’s only Nobel Prize winner, Peter Medewar was a Brazilian-British biologist responsible for the discovery of acquired immune tolerance and significant work on graft rejection. He is known as the “Father of Transplantation” and won the Nobel Prize in Physiology or Medicine in 1960 alongside Frank Macfarlane Burnet.
Future genomics landscape
Looking ahead, a future challenge for the implementation of genomic medicine in Brazil will be striking the right balance between strengthening genetic services already available and creating new ones. Furthermore, as NGS becomes more integrated into the clinic, ethical issues will arise that will need to be taken into consideration. However, it is hoped that the integration of these advanced genomics technologies will reduce costs for establishing a diagnosis and have a significant impact on improving healthcare for the Brazilian population.
The scientific community within Brazil, particularly in São Paulo, has shown that it is able to achieve ambitious goals, including the launch of the precision medicine initiative which will play an important role in sharing knowledge and putting Brazil on the genomics map. Nonetheless, achieving these goals requires clear limits and proper funding, the latter being a major barrier to the success of genomics within Brazil.
The Brazilian population is highly heterogeneous and admixed, making it an extremely fascinating and important population to study. Despite political and economic crises, the field of genetics/ genomics has developed reasonably well in Brazil. With continued efforts and international support and collaboration, the future of genetics and genomics in Brazil looks promising!
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