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World of Genomics: Chile

Chile is a country best known for its vibrant culture, stunning landscapes, and rich biodiversity.

In this week’s World of Genomics, we explore some of the priorities within Chile’s healthcare system, which has undergone significant reforms since 2000. With a growing biotech industry and a supportive government, Chile is also taking great strides to advance its genomics research output, so read on to learn more.

Population of Chile

Chile’s geography is unique and varied. Its ribbon-like shape spans over 6,437km from the equator to (almost) Antarctica. While the north is home to the driest desert in the world, the south is cool enough to attract penguins to its coast, and to the west are the Andes mountains. Chile also owns the Easter Island territory, which attracts over 100,000 tourists every year and is used in genomic research to discover how humans migrated in early human history.

Figure 1 ¦ Map of Chile

Chile’s history dates back 18,500 years, with evidence of sporadic human habitation in the Monte Verde valley area. About 10,000 years ago, migrating Indigenous Peoples settled in present-day Chile’s fertile valleys and coastal areas. The Incas briefly extended their empire into northern Chile, but the Mapuche people successfully resisted Inca attempts to subjugate them. The result of the Battle of the Maule was the end of the Inca conquest of Chile.

Chile became part of the Spanish Empire in the 16th century, and Spanish colonisation has left its mark on the Chilean population – 59% of its citizens are  of European descent and Spanish is still the main language. In 1818, Chile was proclaimed an independent republic, but the 20th century saw political instability, with ten governments holding power from 1924 to 1932.

Chile’s current Constitution, drafted by Jaime Guzmán in 1980, was approved under the military dictatorship of Augusto Pinochet, and subsequently amended after his defeat in 1988 after which Chile transitioned to a democracy. The judiciary is independent, and Chile underwent a nationwide overhaul of its criminal justice system in 2005. For parliamentary elections, a new moderate proportional electoral system has been in place since the 2017 elections, allowing the entry of new parties and coalitions. The Congress of Chile consists of a 50-seat Senate and a 155-member Chamber of Deputies, located in Valparaíso.

Geographic and demographic information

Summary statistics

  • Land area: 743,532 sq km
  • Gross domestic product (GDP):
    • Total: 317.06 Billion USD (2021)
    • Per capita: 16,265 USD (2021)

Population statistics

  • Population size: 19,493,184 people (2021)
  • Birth rate: 12 per 1,000 people (2020)
  • Death rate: 7 per 1,000 people (2020)
  • Infant mortality rate: 6 per 1,000 live births (2020)
  • Life expectancy: 79 years (2020)
    • Male: 77 years (2020)
    • Female: 82 years (2020)
  • Ethnicities: According to the 2017 census, the ethnicity breakdown of Chile is European descent 59%, Mestizo 25%, Mapuche 9%, African 4%, Aymara 1% and other 2%.

(Source: World Bank)

Healthcare system

Chile is considered one of the top 40 countries globally for healthcare. Before healthcare reforms in 2000, the country had a dual system where low-income high-risk citizens had to rely on public healthcare while high-income low-risk citizens had access to private healthcare. However, the reform rectified this imbalance, guaranteeing universal healthcare for the population. Now, healthcare coverage is primarily available through two sources: the state-funded National Health Fund, known as FONASA, and the private coverage schemes provided by Las Instituciones de Salud Previsional (ISAPRE). FONASA covers a majority of the population, around 78%, while ISAPRES provide coverage to approximately 17-18% of the population. An additional 3-4% are covered under an insurance scheme for the Armed Forces.

In 2019, social justice protests in Chile resulted in the creation of a constitutional assembly. The assembly proposed a new draft Constitution, which includes comprehensive healthcare reform. If approved, the new system would be publicly funded, governed by principles of equity, solidarity, and interculturality, and would focus on primary care. The proposal aims to increase targeted healthcare expenditure, prioritise both physical and mental health, and focus on the inclusion of disadvantaged populations. The new system would integrate both public and private sectors, but concerns have been raised about the role of the private sector and the use of ancestral medicine. If implemented, it would be essential to invest heavily in healthcare infrastructure and carefully legislate and regulate the system to meet the goals of the new system.

Currently, Chile’s healthcare expenditure is at 9.8% of GDP, with high out-of-pocket expenses. The proposed healthcare system would place Chile on par with other developed countries, and periodic national health surveys would evaluate user satisfaction. The reform presents an opportunity to reduce existing healthcare inequalities and meet the needs of the population. However, some are concerned that the private health sector might collapse, which could have devastating effects on the public health system.

Healthcare priorities

Chile faces several public health challenges, including high smoking rates, rising alcohol consumption, and high cancer mortality rates. However, the country’s most significant challenge is obesity, with 34.4% of adults and 44.5% of children being obese or overweight. Chile has introduced policies to address this issue, such as a food labelling scheme, promoting healthy school meals, and weight-loss services.

Around 30,000 people a year die of cardiovascular disease in Chile. It is the leading cause of death in the country and has led to Chile being one of the first countries to adopt the World Health Organisation’s ‘Global Hearts Initiative’. Now, over half of all health services in the country use the WHO guidelines for managing cardiovascular disease, reducing death rates significantly.

Chile has effective screening mechanisms for cervical and breast cancers, but key equipment such as colonoscopes are not widely available, and there is a lack of oncologists and cancer support groups. Notably, the presence of the cancer-causing Epstein-Barr virus mixed with a high-salt diet has created the perfect environment for gastric cancer to develop and become the second leading cause of cancer-related deaths in the country, with around 3,500 deaths per year attributed to it.

Further development of cancer strategies and involving key stakeholders, such as regional health authorities and insurers, could help improve cancer screening coverage and early detection. Genetic medicine also has the potential to strengthen public health and preventive care in Chile, but regulation related to genetic testing, healthcare coverage entitlements, and data governance must be carefully developed. There’s clearly an appetite for genetic medicine in Chile, but as of yet that hasn’t been translated into policy.

Genomic medicine capabilities

Clinical genetics has been established as a medical speciality in Chile since 1997, with a fellowship program for physicians in the medicine department at the University of Chile lasting three years. Despite this, there is still a severe lack of clinical geneticists in the country. There are currently only approximately 30 clinical geneticists in the country compared to the “ideal” estimated number of 170 for the size of the population – and there is no formal genetic counselling program.

Newborn screening (NBS) in Chile began in 1992 with the implementation of a program to test for phenylketonuria (PKU) and congenital hypothyroidism (CHT). The program was rolled out gradually and by 1998 it covered the entire country, leading to the identification of more than 3,000 patients with CHT and 500 with PKU. The treatment for these conditions requires lifelong access to special foods, and a team of specialized professionals provides ongoing monitoring through a centralized program that has proven to be successful.

Currently, Chile is piloting an expanded newborn screening (ENBS) program that aims to detect 26 treatable conditions. The pilot program is being implemented in four phases, and at present, it covers newborns from one large center to ensure proper follow-up. If successful, the ENBS program could significantly reduce disease burden, improve the quality of life for patients and their families, and lower public healthcare expenditures.

Although there is excitement around the potential benefits of ENBS, there are no immediate plans to integrate more advanced and expensive technologies like genomic screening into the publicly-funded NBS program. Nonetheless, the success of the existing NBS program and the potential benefits of ENBS make it clear that investing in newborn screening is a wise public health policy.

Between 2012-2014, the Scientific and Technological Development Support Fund funded a project characterising the genetics of the Chilean population. The project aimed to identify 100 informative short nucleotide polymorphisms (SNPs) from sequencing 2,500 individuals from across the country. From this research, scientists were able to improve understanding of Chilean genetic heritage and create a valuable tool for future biomedical ventures. Currently, this research is being used to study how genetic variation in the Chilean population affects susceptibility and severity of COVID-19 infections in the population.

Notable Projects

  • The Chilean 1000 Genomes Project: A collaboration between the “Five Chilean Centres of Excellence” which aims to obtain the genome sequences of 1000 Chileans and 1000 species that inhabit the country.
  • Chilean World Atlas of Human Cells Inclusion: Academics from the University of Chile are collecting DNA from indigenous individuals in Chile to be included in the World Atlas of Human Cells.
  • The Newborn Screening Program: First established in 1992, now Chile is piloting an expanded program to detect 26 treatable conditions in newborns.

Notable organisations and companies

  • The Society of Biochemistry and Molecular Biology of Chile (SBBMCh): A professional organization in Chile that promotes research in biochemistry and molecular biology to benefit the community, with membership open to all qualified individuals regardless of gender, nationality, or status.
  • The Center for Genomics and Bioinformatics at Universidad Mayor (CGB-UM): A research center at Universidad Mayor in Chile, founded in 2010, to tackle challenges in genomics and bioinformatics through scientific research, technology, and innovation.
  • Fundación Ciencia & Vida (Science for Life Foundation): A private non-profit institution in Chile focused on advancing scientific discovery, entrepreneurship, and education in the biological sciences to improve the social and economic development of the country.
  • Aquaculture Genomics Lab Projects: A company that works on developing novel genomic resources to determine the molecular basis of economically important traits (disease resistance, growth and product quality) in farmed fish and shellfish.

Notable Individuals

  • Helios Murialdo: A Chilean-Canadian molecular biologist, fiction writer, and ecologist who contributed to the development of the first system for cloning human genes through his research into bacteriophages. He is also a member of the board of directors of Fundación Ciencia & Vida.
  • Pablo Valenzuela: A Chilean biochemist best known for his genetic studies of hepatitis viruses, participation in the discovery of hepatitis C virus, and co-founding the biotechnology company Chiron Corporation and Fundación Ciencia & Vida, where he currently works.
  • Ricardo Verdugo: An assistant professor in the Human Genetics Program at the University of Chile, Verdugo is currently leading the World Atlas of Human Cells project to include indigenous Chilean people.
  • Miguel Allende: Currently leading the Chilean 1000 Genomes Project, and is Director of the Centre for Genome Regulation.

Future genomics landscape

Chile’s investment in research and development places it among the top 50 countries in the world. However, the country still has a long way to go in the field of genomics, with only 15 laboratories currently dedicated to this area.

Despite this, exciting developments have already taken place in Chile’s genomics sector. In 2022, the World Atlas of Human Cells announced plans to incorporate the genomes of indigenous peoples from Chile into their database, enabling precision medicine strategies to be developed for an underrepresented population. Additionally, new DNA technologies have allowed ancient DNA to be sequenced, revealing that Easter Island and its surrounding islands share a genetic connection, shedding light on the migration patterns of early humans.

While Chile’s genomics industry may still be in its early stages, the country is making strides towards greater scientific discovery. The recently proposed Constitution for Chile is set to increase investment in science and technology, and has the potential to bring about significant progress in genomics research in the future.