To promote the adoption of preventive medicine strategies in Colombia by using genetic information to guide treatment decisions.
Development of custom bioinformatic pipelines for individual genetic risk assessment and ancestry analysis under Genomcore’s computational framework.
Conclusion in numbers
The study identified individuals with a high predisposition to common diseases and provided insights into the high level of admixture within the Colombian population.
BIOS is a technology development center focused on applied research in the areas of biotechnology and data science. It offers customized solutions for business, academia and the government, being the main ally of the Science, Technology and Innovation ecosystem actors in the generation of knowledge and high-impact technology transfer. To go beyond research and achieve the real application of scientific knowledge and cutting-edge technology, BIOS launched in 2019 the “Colombian Human Genome” project, now called “Origen”, that has the purpose of contributing to public health policies and promoting the adoption of preventive medicine strategies in Colombia through the study of genetics.
Genomic studies have predominantly focused on individuals of European ancestry, limiting insights into disease mechanisms and hindering the implementation of public health strategies in non-European countries. The disproportionate representation of certain populations in biomedical research can create disparities and prevent equitable implementation of personalized medicine, which directly impacts the health outcomes of underrepresented groups. With this in mind, BIOS launched “Origen” to provide a more comprehensive understanding of the genetics of the Colombian population.
According to Narmer Fernando Galeano, BIOS Biotechnology coordinator, “this project was born with the motivation of being the initiative, in our country, that allows laying the foundations of personalized and precision medicine, seeking to obtain representative genetic information of our entire population”. For Galeano, leveraging this data is critical for implementing precision medicine and advancing preventative strategies within the Colombian healthcare system through the use of advanced technologies like bioinformatics. This will have a significant effect on reducing costs associated with treating diseases, particularly chronic noncommunicable diseases.
According to Jorge Jaramillo, Scientific Director of BIOS, the Colombian healthcare system needs to overcome its interventionist approach that prioritizes disease management over prevention. He emphasizes the need for a collaborative effort among institutions, organizations, academic units, research groups, and national and international entities to implement precision medicine in Colombia.
The project’s main goal is to promote and disseminate knowledge about the impact of the genomic application in medicine, showcasing the significant contribution it could make to the Colombian healthcare system. In addition, it aims to provide preventive information to study participants, giving them the opportunity to achieve a better quality of life.
The initial phase of this flagship project involved conducting a pilot study with the objective of determining the procedures and methodologies that will be utilized in the long run within this initiative. This pilot study focused on the study of Colombian population’s exomes to provide preliminary data and fundamental understanding for the implementation of precision medicine in the country. To execute the pilot study, BIOS sought the technological and bioinformatics support services from a company specialized in collecting, processing, and managing clinical and genomic data, as well as research, development, commercialization, consultation, and advising.
Genomcore provided its technological framework to help execute the Origen pilot project, which included the sequencing of exome samples and a genetic risk assessment through the study of 59 genes based on the recommendations of the American College of Medical Genetics and Genomics (ACMG). In addition, exome-based ancestry analysis were conducted to gain insight into an individual’s ancestral origins and levels of admixture. This gathered information could aid in determining the risk of heritable conditions that are more common in the Colombian population.
For this project, the Genomcore’s expert team assisted in developing tailored bioinformatics workflows to address BIOS’s requirements and utilized the computational capabilities of the Genomcore Biomed platform to analyze the samples. This ensured both reproducibility and standardization in the analyses. In addition to the main bioinformatics analysis, Genomcore’s platform also facilitated results management and integration, producing reports that were sent to specialized physicians, which provided various interactive visualization tools based on the end-user needs.
CONCLUSIONS IN NUMBERS
The genetic information of all participants in the pilot study has been analyzed and all of them have received a report assessing their genetic risk to most common diseases as well as an ancestry report to know their level of population admixture in their genome as well as some clues about where their ancestors came from.
The study identified individuals at a higher risk for developing common diseases such as cardiovascular disorders or specific types of cancer, who will be able to implement preventive interventions such as lifestyle changes to reduce the risk of disease.
Additionally, the study shed light on the high level of admixture within the Colombian population. Admixture refers to the mixing of different ancestral populations, which can lead to genetic diversity and unique genetic profiles. In Colombia, admixture may result from historical factors such as colonialism, migration, and trade. By studying the genetic makeup of the population, researchers may be able to better understand the origins of the population, as well as the genetic factors that contribute to health and disease.
Overall, the study’s findings may have important implications for public health efforts in Colombia and beyond, established the procedures and methodologies that will be used in the next steps of this project.
At Genomcore, we are very proud to have contributed with our technological solutions to the Origen project to make precision medicine a reality in Colombia
Discover the features used in this project