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World of Genomics: Colombia

Our next World of Genomics destination is Colombia! Named after Christopher Columbus, the “discoverer” of the new world, Colombia contrasts bustling modern cities with equatorial forests that are home to indigenous groups, and everything in between.

Colombia has famously endured low-intensity armed conflict for nearly 60 years. However, this conflict has decreased considerably in recent years thanks to governmental ceasefire efforts to curb the violence and the country is now hoping to attract tourists who can enjoy the sights, ranging from charming colonial towns to jungle-clad mountains, lush coffee plantations and lively nightlife scenes.

The population of Colombia

Colombia, officially known as the Republic of Colombia, is situated in northwestern South America. The country has 1,000 miles of coastline to the north, which is bathed by the waters of the Caribbean Sea, and 800 miles of coastline to the west, which meets the Pacific Ocean. Colombia is bordered by Panama, which divides the two bodies of water, on the northwest, by Venezuela and Brazil on the east, and by Peru and Ecuador on the south. The country’s main population is mostly concentrated in the mountainous interior, where Colombia’s capital city, Bogotá, is situated on a high plateau in the northern Andes Mountains.

Colombia has a diverse, multi-ethnic population with major ancestry contributions from Europe, Africa and the Americas. The main ethnic groups descend from one of these three racial groups. However, Colombia is thought to be one of the most ethnically diverse countries in the Western Hemisphere and in the world, with over 900 recognised ethnic groups.

The population of Colombia is large compared to the rest of Latin America and the world, and the country has experienced a 223% growth rate from 16.06 million to 53.7 million since 1960. This is thought to be due to improvements in the economy and mass migration from rural areas, resulting in improvements in living standards.

A large part of Colombia’s economy is driven by agriculture, with the main exports including coffee, bananas, corn, sugarcane and wheat. Other crops such as cotton supply the Colombian textile industry while others such as tobacco, sesame and cut flowers are distributed to surrounding countries.

Geographic and demographic information

Summary statistics

  • Land area: 1.142 million km2.
  • Gross domestic product (GDP):
    • Total: $343.94 billion (2022 estimate).
    • Per capita: $6630.30 (2022 estimate).

Population statistics:

  • Population size: 53, 717, 000 (2023). 
  • Birth rate: 13.8 per 1,000 people (2023). 
  • Death rate: 5.9 per 1,000 people (2023). 
  • Infant mortality rate: 11.0 deaths per 1,000 live births (2023). 
  • Average life expectancy: 77.5 years (2022).
    • Male: 74.6 years(2022).
    • Female: 80.4 years(2022).
  • Ethnicity: Mestizo 53.5%, White European 30.7%, African Colombian, Mulatto, Palenquero, or Raizal 10.5%, Native South Americans 3.4% and other 1.9% (2022).

Healthcare system

Following an overhaul to the Colombian national constitution in 1991, the 1993 Health Act, known as Law 100, was created, dramatically expanding health coverage to the whole population. This law entitled all citizens to comprehensive health benefits provided by public and private health insurance companies, irrespective of their ability to pay. Colombian citizens could take part in one of two regimens: the contributory regimen, which covered those who met a minimum monthly income threshold and covered all levels of care, or the subsidised regimen, which covered poorer citizens and only covered low-complexity care and serious illness.

Following the introduction of Law 100, healthcare coverage increased significantly, particularly among the poor. However, the government could not sustain the system financially. Following a significant number of right-to-health litigation court cases, in 2008 the Colombian Constitutional Court ordered another reform, forcing the government to correct deficiencies in the system.

Since these reforms, Colombia’s healthcare system has improved dramatically and is now ranked as the 22nd most efficient in the world by the World Health Organisation, above Canada, the USA and Australia. Colombia has now become a destination for cosmetic and transplant surgery and has some of the best healthcare facilities in Latin America. Around 20% of government spending is used for healthcare and now covers almost all Colombian citizens.

Health Priorities

The most common causes of death in both men and women in Colombia are ischaemic heart disease, stroke and chronic obstructive pulmonary disease. In women, breast cancer is the 5th most common cause of death. However, in males, interpersonal violence and road injury are the 2nd and 5th most common causes of death, respectively.

As of August 2023, Colombia had 6,378,000 confirmed COVID-19 cases and 142,961 confirmed deaths. The country’s ongoing social unrest was only escalated by the pandemic, resulting in violent protests and widespread outrage at the level of social inequality. This was felt particularly strongly among the poorest citizens who work retail and food sector jobs, and so were hit hardest by the business closures during the lockdowns.

Throughout history, a number of genetic disorders have been prevalent in Colombia and evidence from the pre-Columbian era particularly highlights disorders from the Tumaco-La Tolita culture, a group of Amerindians settled in what is now the Colombian and Ecuador coast, around the year 600 BC. A collection of clay figurines has preserved in incredible detail the representation of what are thought to be prevalent genetic syndromes in the population at that time, including Morquio, Down’s syndrome, and Treacher-Collins syndrome.

Figure 1. Tumaco-La Tolita pottery depictions of Down’s syndrome in Colombia from around 600 BC.
Taken from Pachajoa and Rodriguez, 2013 and Bernal and Briceno, 2006.

Several genetic conditions have been observed to be more prevalent in Colombia than in other countries. On the island of Providencia, the prevalence of sensorineural deafness, general nonsyndromic deafness and Waardenburg syndrome is higher than average. The incidence on the island is 5 cases per 1000 people, of which 65% of cases are considered genetic. This is thought to be due to the “founder effect”, the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population.

A further example of the founder effect is Roberts’s syndrome, a rare disorder characterised by severe limb and facial abnormalities, which was established after reports of an unusually high number of cases outside Bogota. Patients were found to share a common ancestor in the 18th century and this research was pivotal in finding the causal gene, ESCO2. Since the time of this research, around 150 other cases have been reported worldwide, but a large proportion of them are in Colombia.

Huntington’s disease is endemic in the Colombian town of Juan de Acosta, which contains the second largest population of patients with Huntington’s disease in the world. The condition can be traced back to one of the town’s founders, Lucas Echeverria, who emigrated from Spain in 1790. The founder effect again resulted in a population significantly affected by this disease, with over 25 multigeneration families affected.

The region of Paisas has a high incidence of genetic disease due to its geographical isolation and high degree of consanguinity. This population has been well studied in linkage and genome-wide association studies for a variety of conditions including ADHD, Tourette syndrome, bipolar disorder and facial clefting. This population also commonly develops a severe form of early-onset Alzheimer’s disease, due to a founder mutation, p.Glu280Ala in the PSEN1 gene.

Genomic medicine capabilities

The genomic diversity of the Columbian population represents a rich and largely untapped resource that could be used to develop genomic medicine locally in Colombia and around the world. Programmes are now underway that aim to characterise patterns of genetic ancestry within and between Colombian and other Latin American populations, while also exploring the relationship between ancestry and genetic determinants of health and disease in Colombia. These studies hope to determine the effect of ethnicity and genetic ancestry on observed disease prevalence and predicted risk throughout Colombia.

Although Columbia has an interesting and detailed history of genetic disease, regular genetic testing is not covered by standard healthcare coverage. Patients have called for legal action where an issue has been life-threatening, and governmental reimbursement for genetic testing costs has been successfully granted by a judge. Referrals to clinical geneticists are covered by some healthcare insurers, but it is not guaranteed.

Colombia established its national newborn screening program in 2000 to detect, confirm and treat congenital hypothyroidism in newborns and by 2015 this program covered approximately 80% of all newborns. In 2019, the legislation expanded the screening program to include several other genetic diseases as well as visual, hearing and cardiac screening.

Columbia does not currently have a rare disease programme. However, work is ongoing to develop one. A law passed in 2010, known as Law 1392 or the Orphan Diseases Law, guarantees medical care and social protection for individuals with a disease that is prevalent in less than 1 in 2000 people. Amendments were later added to Law 1392 to streamline the identification and registration of rare diseases in the nationwide registry program. Decree 1954, established in 2013, was created to consolidate the information in the national registration of rare disease patients. Although patients are supported one diagnosed, it is thought that around 75% of patients with rare diseases remain undiagnosed throughout Latin America.

Notable projects

  • Earth Biogenome Project – Colombia: Aims to sequence, catalogue and characterise the genomes of all of Earth’s eukaryotic biodiversity over a period of ten years.
  • 1000 Genomes Project – Colombia contributed to this international catalogue of common human genetic variation, using openly consented samples from healthy donors.
  • ChocoGeN – Genetic studies of a predominantly Afro-Colombian population, aiming to characterise the genetic ancestry of the population of Chocó, and explore the relationship between ancestry and genetic determinants of health and disease in the region.
  • The Colombia Project of Hope – Collaboration between the National Fragile X Foundation and the Colombian town of Ricaurte, which has a very high prevalence of Fragile X Syndrome due to a founder effect mutation.
  • GROW Colombia – Aims to sequence data from living Andean bear samples and ancient DNA from museum bear samples which will be mapped against a genome reference assembly to assess bear genetic diversity and population structure.

Notable organisations and companies

  • CIDEIM Biobank – Biobank containing over 20 years of virus samples isolated from patients, as well as reference, drug resistant and transfected samples.
  • BRIDGE Colombia – Partnerships between Colombia and UK researchers to promote the exchange of knowledge with the goal of stimulating economic growth in Colombia. Projects include the Earth Biogenome Project.
  • The Colombian Association of Geneticists – Brings together leaders in the field of human genetics and is dedicated to research, training and knowledge sharing in Colombia and the Ibero-America region.

Notable individuals

  • Dr. Francisco Lopera: Colombian neuroscientist who discovered the PSEN1 mutation, linked to early-onset Alzheimer’s disease.
  • Marlene Jimenez and Carlos Velez: Husband and wife researcher team who found the E280A mutation linked to Alzheimer’s disease.
  • Sara Gomez-Trillos: Colombian-born, USA-based health researcher raising awareness of genetic counselling for Latina women affected by Hereditary Breast and Ovarian Cancer Syndrome (HBOC).

The future genomics landscape

Due to the prevalence of several genetic diseases in remote populations in Colombia caused by the founder effect, there is much interest in ongoing research into the cause of these diseases, including early onset Alzheimer’s disease. As Colombia is an ethnically diverse country, further research into the genetic ancestry of the population and exploration of the relationships between ancestry and genetic determinants of health and disease in the region may reveal further insights.

Genetic testing for clinical diagnosis is available in Colombia. However, follow-up and genetic counselling services are currently not available through the public healthcare system. Many universities in Colombia offer basic genetics undergraduate courses, butspecialised postgraduate courses are rare and there are no training courses for genetic counsellors or assistants. Genetic counselling in Colombia is conducted exclusively by clinical geneticists, who are doctors in charge of both diagnosis and genetic counselling, which makes access more difficult for patients. Improvements in accessibility to genetic services for patients and increased numbers of trained staff could help improve the genomic medicine landscape in Colombia, particularly for those affected by rare diseases.


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Britannica. Colombia. 2023. Available online at:

Chande A T, Nagar S D, Rishishwar L, Marino-Ramirez L, Medina-Rivas M A, Valderrama-Aguirre A E, Jordan I K, Gallo J E. The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia. Frontiers in Genetics. 2021. Vol 12. doi:10.3389/fgene.2021.690366

De Castro M and Restrepo C M. Genetics and Genomic Medicine in Colombia. Molecular Genetics & Genomic Medicine. 2015. Mar pages i-iii, 79-154. doi: 10.1002/mgg3.139

Pachaioa H and Rodriguez CA. Down’s Syndrome in pre-Hispanic pottery of the Colombia–Ecuador Pacific coast (2000 years ago). Neurologia (English Edition). 2013. Jan-Feb; 28(1): 62. doi: 10.1016/j.nrleng.2011.05.005

Rodas-Perez C, Clarke A, Powell J, Thorogood M.Challenges for providing genetic counselling in Colombian genetic clinics: the viewpoint of the physicians providing genetic consultations. Journal of Community Genetics. 2015. Jul; 6(3): 301–311. doi: 10.1007/s12687-015-0237-1

Wainstock D and Katz A. Advancing rare disease policy in Latin America: a call to action. The Lancet Regional Health – Americas. 2023, Jan vol 18, 100434. doi: 10.1016/j.lana.2023.100434

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World Health Organization. Colombia. 2023. Available online at