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Although 70% of human life is determined by habits and lifestyle, there are still 30% whose influence is directly genetic. From behaviors to diseases, it is possible to act in various areas with greater precision when genetic information is available.
In recent years, genomics—the field that studies the genetic material of living organisms (DNA)—has made discoveries that have enabled advances in the diagnosis and treatment of various conditions, such as cardiovascular, oncological, metabolic, and others. As a result, medicine is now moving toward being less generalist and more personalized and precise.
Currently, it is already possible to conduct genetic testing at both personal and population levels. On a personal level, Brazil has services offered by laboratories of major networks, such as Dasa and Fleury, which have genomics departments, in addition to companies that sell tests directly to consumers, such as Genera, Predicta, and Igenomix.
In direct-to-consumer sales, people seek information indicating which diseases they may develop throughout life, how their body processes nutrients, responds to medications, and their physical performance capacity (such as endurance time and risk of injuries), among many other aspects.
At the population level, by analyzing genetic variations in different groups, researchers and healthcare professionals can identify disease predispositions, enhance screening strategies, and develop more effective public health policies.
In this regard, one of the main applications of genomics in public health is epidemiological surveillance. Through genetic sequencing of viruses and bacteria, it is possible to monitor mutations and identify new variants of infectious diseases, as was done during the Covid-19 pandemic. This information enables a rapid response in vaccine and treatment development, as well as supporting containment and outbreak control measures.
But after all, what is the concept of genomics, and how is it conducted?
Definitions and Foundations of Genomic Science
Genomics is the field of biology that studies the complete set of genes of an organism. As defined by the United Kingdom's National Health Service (NHS), this science investigates DNA, its genes, and how they express themselves, interact, and function within the organism.
The human genome is composed of approximately 3 billion base pairs and is estimated to contain between 20,000 and 25,000 genes. Each cell in the human body (except reproductive cells) contains a complete copy of this genome. When mutations occur in DNA, the organism is affected, which can influence everything from fetal development to associations with diseases and behavioral tendencies.
The difference between genetics and genomics lies in the focus of study: while genetics examines individual genes and their hereditary transmission, genomics seeks to understand how all genes interact with each other and with the environment. Additionally, genomics investigates DNA regions that do not encode proteins but may play essential roles in health and disease development.
To study the genome, different methods can be used, such as:
- Whole Genome Sequencing (WGS) – Obtains the complete DNA sequence of an organism, analyzing its genetic variations.
- Exome Sequencing – Examines only the coding regions of DNA, which represent about 1% to 2% of the genome but contain most mutations associated with genetic diseases.
- Targeted Sequencing – Analyzes specific DNA regions, offering a lower cost and a more focused approach than WGS.
- Genotyping – Identifies genetic variations without sequencing the entire genome, making it useful for population studies.
- PCR (Polymerase Chain Reaction) – Amplifies specific DNA segments for further analysis.
- RNA-seq – Measures gene expression by sequencing RNA molecules.
- ChIP-seq – Studies interactions between proteins and DNA to understand gene regulation.
- ATAC-seq – Analyzes chromatin accessibility, providing insights into DNA structure.
Using these methodologies, it is possible to understand how genes influence growth and development, as well as predict the likelihood of disease development throughout life based on an individual's genetic profile.
To reach the current level of knowledge, many studies and projects have been conducted throughout history. Below, you can see how genomic science has evolved over time.
Genomics Over Time
The study of human genetic material began in the 19th century with the identification of DNA and its nitrogenous bases. However, significant advancements occurred in the 20th century, such as the description of the DNA double-helix structure by Watson and Crick in 1953 and the launch of the Human Genome Project in 1990. This project, completed in 2003, sequenced 92% of the human genome and provided a foundation for future innovations in genetic research.
In recent years, advancements have accelerated even further, driven by the development of new sequencing technologies and the practical application of these discoveries in healthcare.
For example, in 2009, scientists published the first comprehensive analysis of cancer genomes, identifying genetic alterations associated with lung tumors and melanoma. The following year, the sequencing of the Neanderthal genome was completed, allowing for direct comparisons between modern human DNA and that of ancestral species.
However, the major revolution in genetic editing occurred in 2013 with the discovery of CRISPR-Cas9, a tool that enables highly precise DNA modifications. This technology not only transformed genetic research but also opened new possibilities for treating hereditary diseases.
Thus, in 2017, with the help of CRISPR, scientists edited human embryos for the first time, correcting a mutation associated with hereditary heart diseases.
Then came the era of large-scale population sequencing projects. In 2018, the United Kingdom completed the 100K Genomes Project, mapping the DNA of 100,000 people affected by rare diseases and cancers, setting a model for future precision medicine initiatives.
Two years later, the sequencing of the SARS-CoV-2 genome was crucial in accelerating the development of vaccines against Covid-19.
Another milestone occurred in 2022 when researchers finally filled the remaining gaps in human genome sequencing, completing the reading of 100% of human DNA for the first time in history. The following year, the United Kingdom launched a pilot program to test whole-genome sequencing in newborns, assessing its usefulness in the early detection of genetic diseases.
As of 2025, the most prominent genomic projects are the Newborn Genomes Programme (UK) and BeginNGS (USA). Both research programs aim to optimize newborn screening using genomic sequencing.
Market Perspectives
According to an analysis by Precedence Research, the global genomics market currently generates $44.21 billion and is expected to reach $175.18 billion by 2034. With an annual growth rate of 16.53%, the genomics market is primarily driven by North America and Asia, which account for 42.65% and 30.15% of the market, respectively. Latin America holds 18.86% of the market share, with Brazil leading the segment, responsible for over 50% of genomic initiatives in the region.
Artificial intelligence (AI) and machine learning (ML) have become essential tools for advancing genomic science. The increasing complexity of genomics requires even more resources to enable accurate and rapid analyses, as well as the ability to extract insights from the generated data, store it, and make it understandable for physicians using this genetic information.
In genomics, the direct-to-consumer (DTC) model stands out, particularly the approach used by Genera — a Brazilian genetics laboratory pioneering genomic medicine. Genera is known for providing information based on genetic tests for disease prevention, sports performance analysis, and, most notably, ancestry tracing.
Business models like Genera’s have advanced and gained traction among consumers thanks to the reduction in sequencing costs, which are now below R$ 5,000 in Brazil. For comparison, in other countries, the cost of this procedure was US$1 million in 2007, US$1,000 in 2014, and US$600 in 2022. Although the final price of the service is already relatively affordable, expectations are that costs will drop even further, allowing for greater market reach.
In the context of genomics in Latin America, public health initiatives face challenges related to infrastructure for large-scale genetic data collection and analysis. However, Brazil has been investing in population sequencing programs and national biobanks — such as the National Tumor and DNA Bank, managed by the National Cancer Institute (INCA) — which can help develop more targeted and effective health policies.
As genomics becomes more accessible and integrated into healthcare systems, its impact on public health is expected to grow, contributing to a more preventive, predictive, precise and personalized medical model.
Impact of Genetic Knowledge in Real Life
In Brazil, genetic testing has been increasingly attracting attention and impacting people's lives. According to a study published in the Journal of Community Genetics, conducted by Genera in partnership with the University of São Paulo (USP), 64% of Brazilian consumers change their habits after undergoing genetic tests.
In another survey conducted by Genera, involving more than 4,000 participants, it was found that:
- 27% believe that knowing their body and genetics better would make disease prevention easier.
- 25% think that genetic knowledge would help them better understand their nutritional needs.
In November 2024, in yet another partnership between USP and Genera, a study with 1,315 Brazilian consumers revealed that, after genetic testing:
- 38.7% adjusted their diets
- 24.2% started undergoing regular health checkups
- 16.5% increased their physical activity levels
Additionally, many participants showed a greater interest in home cooking after receiving their genetic test results, aiming for healthier meals to help achieve specific goals such as reducing body fat, gaining muscle, and more.
"Direct-to-consumer genetic tests are becoming increasingly accessible and popular, promoting a deeper understanding of individual health. In the information age, understanding one's genetics is like having a treasure map for health. Each gene is a clue guiding us toward wiser and more personalized choices. In this journey, genetic tests are valuable tools for customizing health and wellness approaches," said Ricardo Di Lazzaro, physician, Ph.D. in genetics from USP, and co-founder of Genera.
