South America Genetic Testing Market Outlook, 2030

The market for genetic testing in South America is advancing due to increased health awareness, growing clinical demands, and innovative solutions tailored to the region helping to address diagnostic disparities in Brazil, Argentina, and Chile with accessible, regulated, and more personalized genomic offerings. This market is influenced by heightened understanding of genetic disorders, cancer vulnerabilities, and reproductive health matters among various communities. The rising need for early detection of issues like breast cancer, cystic fibrosis, and congenital disorders is leading to an increase in clinical and reproductive genetic testing in countries such as Brazil, Argentina, and Chile. In Brazil, the Unified Health System SUS has incorporated genetic services within its public health agenda, while Argentina’s National Program for Rare Diseases, alongside genomic initiatives in Chile, is working to broaden testing accessibility for those lacking such services. The journey of genetic testing in this area began in the 1990s with academic and hospital research, eventually giving rise to commercial applications. Currently, the main services offered include clinical diagnostics like oncology and cardiogenetics, ancestry testing which enjoys popularity in Brazil due to its varied ethnic backgrounds, and reproductive testing covering carrier screening and prenatal assessments. The technical aspect of genetic testing involves evaluating DNA, RNA, or chromosomes through methods such as PCR, microarrays, or next-generation sequencing NGS to identify mutations, chromosomal changes, or gene expression patterns. These technologies are critical in developing economies where access to healthcare can be inconsistent allowing for timely interventions, personalized therapies, and minimized diagnostic waiting periods. Technological innovations such as portable sequencers, AI-assisted variant analysis, and cloud-based results sharing are enhancing the cost-effectiveness and efficiency of tests. Regulatory bodies like Brazil’s ANVISA and Argentina’s National Administration of Laboratories are increasingly aligning with standards to ensure test accuracy and ethical management of data.

According to the research report, "" South America Genetic Testing Market Outlook, 2030,"" published by Bonafide Research, the South America Genetic Testing market is anticipated to add to USD 1.20 Billion by 2025–30. The market for genetic testing in South America is growing rapidly due to the expansion of diagnostics, innovation within the region, and the integration of digital health led by Brazil's prominent position, increasing insurance coverage, and focused oncology initiatives. This growth is fueled by the rising awareness of inherited diseases, cancer risks, and reproductive health issues in Brazil, Argentina, and Chile. Brazil is at the forefront, supported by strong infrastructure and collaborations between public and private sectors Dasa, one of the largest diagnostic networks in Latin America, and Mendelics, a leader in clinical genomics, are broadening their services to encompass whole-exome sequencing, pharmacogenomics, and panels for rare diseases. These developments are a response to the increasing need for personalized oncology, particularly for breast, colorectal, and lung cancers, where genetic analysis aids in developing targeted treatments. Argentina’s National Program for Rare Diseases and Chile’s efforts in genomic surveillance are also improving accessibility in less-served areas. New laboratory networks like Brazil’s Genov are beginning to emerge to make testing more accessible and to speed up results. There are significant opportunities in rural and peri-urban regions, where access to diagnostics is scarce but demand is growing due to public health initiatives and telemedicine support. Technological improvement portable sequencers, AI-driven variant analysis, and cloud-based reporting are enhancing affordability and scalability. Regulatory agencies such as ANVISA Brazil and ANMAT Argentina are aligning with standards, which boosts the reliability of tests and ethical data handling. Insurance coverage is improving, with Brazil’s SUS and private insurance companies increasingly providing reimbursements for genetic tests related to oncology and prenatal care.

Market Drivers

• Increasing awareness of genetic and chronic illnesses In countries like Brazil, Argentina, and Chile, health campaigns and greater media attention have raised knowledge about genetic risks associated with diseases such as breast cancer, cystic fibrosis, and familial hypercholesterolemia. This trend is especially noticeable in cities where educational efforts and advocacy by organizations focused on rare conditions have promoted early testing and family screenings. For example, in Brazil, the Ministry of Health has included genetic counseling in certain public healthcare facilities, while Argentina’s Rare Disease National Program encourages early identification through genetic panels.
• Growth of public-private genomics infrastructureCompanies such as Brazil’s Genov and Mendelics, Gador from Argentina, and Chile’s Genosur are enhancing their laboratory capabilities and sequencing processes. These firms are allocating resources toward next-generation sequencing NGS, AI-driven variant analysis, and cloud-based reporting to satisfy rising clinical needs. Collaborations between public and private sectors such as partnerships with Dasa and universities are facilitating translational research and widescale population screening.

Market Challenges

• Limited availability in rural and underprivileged areasWhile cities like São Paulo, Buenos Aires, and Santiago provide superior genetic services, rural and peri-urban regions experience a lack of diagnostic resources. Obstacles include insufficient trained genetic counselors, limited laboratory facilities, and difficulties in sample transportation. This leads to delays in diagnoses, especially for rare diseases and hereditary cancers, highlighting the necessity for mobile testing services and tele-genetics solutions.
• Disjointed regulatory and reimbursement systems Regulatory agencies such as ANVISA in Brazil, ANMAT in Argentina, and ISP in Chile are slowly moving towards international standards; however, discrepancies in test categorization, approval durations, and market oversight remain. Reimbursement is inconsistent many genetic tests are still borne out-of-pocket, restricting access for individuals in lower income brackets. Although Brazil’s SUS has started reimbursing certain oncology and prenatal assessments, broader coverage is essential for promoting fair adoption.

Market Trends

• Tailored oncology treatments and pharmacogenomicsGenetic analysis is being increasingly utilized to direct cancer therapies, especially for breast, colorectal, and lung cancers. NGS panels assist in uncovering significant mutations e.g., BRCA1/2, EGFR, KRAS, allowing for specific treatments that enhance patient outcomes. Pharmacogenomic evaluations are also becoming popular in fields like psychiatry and cardiology, with initial programs in Brazil and Argentina incorporating drug-gene interaction information into electronic health records.
• Integration of digital health and tele-geneticsThe emergence of mobile health solutions and online diagnostics is reshaping accessibility. Firms like Genial in Brazil and GeneXus in Chile provide remote sample collection kits, digital consent processes, and virtual genetic counseling services. These innovations shorten processing times and extend services to underserved locations. National strategies for digital health such as Brazil’s Conecte SUS are beginning to incorporate genomic information, setting the stage for integrated care models centered on patients.

The service sector is the most rapidly expanding part of the genetic testing industry in South America, as it provides solutions that can be easily adjusted to different regions and effectively address gaps in infrastructure and regulatory challenges.

The section labeled by Type Services is experiencing substantial growth throughout South America due to its capacity to offer complete genetic testing processes covering everything from sample collection and sequencing to analysis and counseling without depending on extensive physical infrastructure. In nations such as Brazil, Argentina, and Chile, where access to diagnostics is not evenly distributed and rural areas have limited coverage, service-oriented models allow centralized laboratories to aid scattered populations via remote logistics and online platforms. Companies like Mendelics and Dasa in Brazil illustrate this movement, providing cloud-based results, AI-driven variant analysis, and tele-genetics solutions that satisfy both clinical and consumer demands. These approaches are especially beneficial in areas like oncology, rare disease identification, and reproductive health, where tailored testing panels and quick results are essential. Services are also in line with changing regulatory standards organizations such as Brazil’s ANVISA and Argentina’s ANMAT are increasingly supporting clinically validated service platforms that have CE marks and comply with benchmarks. Collaborations between public and private sectors and regional funding for research and development like Brazil’s Genov and Chile’s genomic tracking initiatives are channeling resources into scalable service networks instead of standalone kits. As insurance options grow and digital health initiatives evolve, service providers are merging with national health systems and mobile applications, which promotes wider acceptance. Direct-to-consumer services, particularly in ancestry and wellness testing, are also becoming increasingly popular, driven by heightened awareness and mobile-first interaction. In the region, Brazil stands out for its service infrastructure and reimbursement practices, Argentina excels in rare disease integration, and Chile is recognized for its advancements in digital health. These factors make the service sector the fastest-growing part of the genetic testing market, uniting clinical importance, affordability, and regional adaptability within the varied healthcare context of South America.

Next-generation sequencing NGS stands out as the most prominent and rapidly expanding technique within the genetic testing market in South America, as it allows for efficient, cost-effective diagnostics across areas such as cancer, rare conditions, and reproductive health matching local healthcare infrastructure and clinical needs.

NGS has become the leading method in South America’s genetic testing field because of its capacity to evaluate numerous genes or whole genomes in a single process, delivering unparalleled diagnostic precision and flexibility. In nations like Brazil, Argentina, and Chile, NGS is increasingly applied for oncology testing, carrier identification, and diagnosing rare diseases, where conventional techniques such as Sanger sequencing or PCR lack adequate coverage and effectiveness. Companies in Brazil, like Mendelics and Dasa, have made significant investments in NGS systems, providing whole-exome sequencing, specialized panels, and AI-assisted variant analysis customized to meet local clinical demands. Argentine firm are also widening their offerings of NGS-based solutions, bolstered by collaborations between public and private sectors and government health initiatives. The rise in NGS usage is also propelled by decreasing sequencing expenses, cloud-based bioinformatics solutions, and portable sequencers, making cutting-edge testing available even in less centralized locations. Regulatory authorities like ANVISA in Brazil and ANMAT in Argentina are granting more approvals to CE-marked NGS tests, aligning with regulations and enhancing trust in clinical applications. Furthermore, NGS facilitates multi-omics integration, allowing researchers and healthcare providers to link genomic, transcriptomic, and proteomic information essential for tailored medicine and predicting drug responses. As insurance coverage widens and digital health technologies advance, NGS is becoming essential in clinical processes, particularly in oncology and reproductive health. Regionally, Brazil leads in NGS infrastructure and funding, while Argentina excels in integrating rare disease testing, and Chile pioneers’ advancements in digital genomics. These trends render NGS the fastest-growing and most adaptable technique, merging affordability, clinical applicability, and regional scalability in the rapidly evolving genetic testing market of South America.

Additional Clinical uses particularly pharmacogenomics represents the fastest-growing area within South America’s genetic testing industry as they significantly enhance treatment results and lower healthcare expenses in systems with limited resources.

The Additional Clinical section, which also covers pharmacogenomics, cardiogenetics, neurogenetics, and screening for metabolic disorders, is experiencing rapid growth throughout South America thanks to its valuable clinical application and increasing incorporation into national health plans. Pharmacogenomics, especially, allows doctors to customize medication regimens according to an individual's genetic makeup reducing negative drug effects and improving treatment effectiveness. This method is particularly important in fields like oncology, psychiatry, and cardiovascular treatment where traditional drug selection methods can be expensive and often fail. Brazil’s Unified Health System SUS has started paying for specific pharmacogenomic assessments, and Argentina and Chile are testing drug-gene interaction panels in public healthcare facilities. These innovations benefit from next-generation sequencing NGS technologies that provide high-throughput, clinically validated information and are increasingly receiving CE-IVD certification through advancing regulatory bodies like ANVISA and ANMAT. Companies are broadening their offerings to incorporate multi-gene tests for predicting drug responses, enhanced by AI-driven analysis and cloud reporting. , local research funding and international partnerships are fostering advancements in pharmacogenomic information systems and digital prescribing resources. As knowledge increases among healthcare providers and patients, the demand for personalized medical approaches is growing, particularly in urban areas with developed oncology and cardiology departments. The cost-effectiveness of targeted testing and the rise of mobile health solutions are further facilitating access in less centralized settings. Regionally, Brazil excels in funding and healthcare infrastructure, Argentina stands out in rare diseases and psychiatric applications, while Chile excels in digital integration. These factors position Additional Clinical applications especially pharmacogenomics as a key driver for growth in South America’s genetic testing sector, connecting clinical significance, regulatory development, and scalable innovation.

Diagnostic laboratories represent the most rapidly advancing end-use sector in South America's genetic testing industry because they offer centralized and adaptable systems that cater to clinical needs and adhere to regulatory requirements within fragmented healthcare networks.

In South America, diagnostic labs are swiftly establishing themselves as essential for genetic testing owing to their capability of providing efficient, clinically approved services across areas like oncology, rare diseases, and reproductive health. Nations such as Brazil, Argentina, and Chile greatly depend on centralized laboratory networks to fill infrastructural shortcomings and guarantee uniform quality. Companies in Brazil manage extensive laboratory systems that facilitate next-generation sequencing NGS, PCR assays, and AI-driven variant analysis allowing for rapid diagnostics and tailored healthcare. These laboratories are vital to urban areas and are increasingly catering to remote locations through the collection of samples at a distance and digital reporting methods. Regulatory agencies such as ANVISA in Brazil and ANMAT in Argentina prefer laboratory-based solutions due to their capacity to meet CE-IVD criteria and engage in post-market monitoring. Diagnostic laboratories also significantly contribute to collaborative efforts in the public and private sectors, such as Brazil's Genov and Argentina's rare disease initiatives, which rely on lab infrastructure for extensive screening and biobank establishment. As insurance coverage broadens particularly for cancer and prenatal assessments labs are joining forces with national health systems and digital platforms to optimize processes and hasten turnaround times. The genomic surveillance initiatives in Chile and Argentina's tele-genetics projects further demonstrate how labs play a key role in connecting clinical practices with geographical challenges. Innovations in technology, such as cloud-based bioinformatics and portable sequencing devices, are improving lab productivity and cost-effectiveness. Regionally, Brazil is at the forefront in laboratory density and reimbursement integration, Argentina excels in rare disease diagnostics, and Chile leads in digital laboratory connectivity. These factors position diagnostic laboratories as the most rapidly expanding end-use segment providing adaptable, compliant, and clinically relevant genetic testing throughout South America's varied healthcare framework.

Brazil stands as the foremost player in the genetic testing field across South America, largely due to its strong diagnostic framework, early embrace of next-generation sequencing NGS innovations, and significant investments from both public and private sectors in genomics along with regulatory coherence.

The genetic testing sector in Brazil is the biggest in South America, is supported by Brazil’s sizable network of diagnostic laboratories, spearheaded by companies such as Dasa, Mendelics, and Fleury, which provide high-capacity next-generation sequencing NGS, AI-enabled variant assessment, and CE-IVD accredited panels. As one of the first countries in its region to incorporate genetic testing into its public health system via the Sistema Único de Saúde SUS, Brazil now covers certain oncology, prenatal, and rare disease evaluations. The nation’s regulatory authority, ANVISA, has progressively aligned itself with benchmarks, simplifying the approval processes for clinical-grade genetic tests and enhancing confidence among healthcare professionals and patients. The nation’s varied demographic has also fueled demand for ancestry and pharmacogenetic testing, enabling businesses to create region-specific panels that mirror the country's distinct genetic diversity. Collaborative public-private projects like Genov and partnerships with research institutions have expedited advancements in population genomics, rare disease databases, and the incorporation of digital health. Brazil’s digital health framework supported by Conecte SUS and mobile-centric outreach allows for remote sample acquisition, tele-genetics, and cloud-based reporting, thereby widening access beyond metropolitan areas. As awareness increases and insurance coverage broadens, Brazil remains at the forefront of clinical adaptation and innovation. In the regional context, it surpasses competitors in lab automation, reimbursement transparency, and genomic data management, establishing itself as the cornerstone of South America’s genetic testing development.


***Please Note: It will take 48 hours (2 Business days) for delivery of the report upon order confirmation. Show more