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South America Whole Exome Sequencing Market

ID: MRFR/HC/48273-HCR
200 Pages
Rahul Gotadki
October 2025

South America Whole Exome Sequencing Market Research Report By Products (Kits, Sequencer, Services), By Technology (Sequencing by Synthesis (SBS), ION Semiconductor Sequencing), By Application (Diagnostics, Drug Discovery and Development, Agriculture and Animal Research), By End-User (Research Centers and Government Institutes, Hospitals and Diagnostics Centers, Pharmaceuticals & Biotechnology Companies) and By Regional (Brazil, Mexico, Argentina, Rest of South America)- Forecast to 2035

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South America Whole Exome Sequencing Market Summary

As per MRFR analysis, the whole exome-sequencing market size was estimated at 173.09 USD Million in 2024. The South America whole exome-sequencing market is projected to grow from 177.83 USD Million in 2025 to 233.12 USD Million by 2035, exhibiting a compound annual growth rate (CAGR) of 2.74% during the forecast period 2025 - 2035.

Key Market Trends & Highlights

The South America whole exome-sequencing market is poised for substantial growth driven by technological advancements and increasing demand for genetic testing.

  • Brazil remains the largest market for whole exome sequencing, reflecting a robust demand for genetic testing services.
  • Mexico is emerging as the fastest-growing region, indicating a rising interest in genomic research and personalized medicine.
  • The supportive regulatory environment is facilitating advancements in sequencing technologies, enhancing market accessibility.
  • Key drivers such as the increasing prevalence of genetic disorders and government initiatives are propelling market expansion.

Market Size & Forecast

2024 Market Size 173.09 (USD Million)
2035 Market Size 233.12 (USD Million)

Major Players

Illumina (US), Thermo Fisher Scientific (US), Agilent Technologies (US), BGI Genomics (CN), Roche (CH), QIAGEN (DE), PerkinElmer (US), Fulgent Genetics (US)

South America Whole Exome Sequencing Market Trends

The whole exome-sequencing market is experiencing notable growth in South America, driven by advancements in genomic technologies and increasing awareness of personalized medicine. The region's healthcare systems are gradually integrating these innovative techniques, which allow for comprehensive analysis of the exome, the protein-coding regions of the genome. This shift is largely influenced by the rising prevalence of genetic disorders and the demand for precise diagnostic tools. Furthermore, collaborations between academic institutions and biotechnology firms are fostering research and development, enhancing the capabilities of the whole exome-sequencing market. In addition, regulatory frameworks in South America are evolving to accommodate the rapid advancements in genetic testing. Governments are recognizing the potential of whole exome sequencing in improving healthcare outcomes, leading to increased funding and support for research initiatives. As a result, the market is likely to witness a surge in the adoption of these technologies across various healthcare settings, including hospitals and specialized clinics. The emphasis on early diagnosis and targeted therapies is expected to further propel the growth of the whole exome-sequencing market in the region, making it a pivotal component of modern healthcare strategies.

Rising Demand for Genetic Testing

There is an increasing demand for genetic testing in South America, driven by a growing awareness of hereditary diseases and the benefits of early diagnosis. Patients and healthcare providers are recognizing the value of whole exome sequencing in identifying genetic mutations, which can lead to more effective treatment plans. This trend is likely to enhance the market's growth as more individuals seek personalized healthcare solutions.

Advancements in Technology

Technological advancements are playing a crucial role in the evolution of the whole exome-sequencing market. Innovations in sequencing technologies are making the process faster and more cost-effective, thereby increasing accessibility for healthcare providers in South America. As these technologies continue to improve, they are expected to attract more investments and drive further adoption in clinical settings.

Supportive Regulatory Environment

The regulatory environment in South America is becoming increasingly supportive of genetic testing initiatives. Governments are implementing policies that promote research and development in genomics, which is likely to facilitate the growth of the whole exome-sequencing market. This supportive framework may encourage collaborations between public and private sectors, fostering innovation and expanding the market's reach.

South America Whole Exome Sequencing Market Drivers

Government Initiatives and Funding

Government initiatives aimed at promoting genetic research and healthcare innovation are significantly influencing the whole exome-sequencing market. In South America, various governments are allocating funds to support genomic research and the development of advanced diagnostic technologies. For instance, public health programs are increasingly incorporating genetic testing as part of preventive healthcare strategies. This financial backing not only facilitates the establishment of state-of-the-art laboratories but also encourages collaborations between academic institutions and private companies. As a result, the market is expected to witness a surge in the availability of whole exome sequencing services, potentially leading to a market growth rate of over 15% annually in the coming years.

Rising Investment in Genomic Research

The increasing investment in genomic research is a vital driver for the whole exome-sequencing market. In South America, both public and private sectors are recognizing the importance of genomics in advancing healthcare solutions. Funding for research initiatives focused on genetic diseases is on the rise, leading to the establishment of specialized research centers and collaborations with international organizations. This influx of investment is likely to enhance the capabilities of local laboratories, enabling them to offer advanced whole exome sequencing services. Furthermore, as research progresses, the potential for discovering new genetic markers and therapeutic targets may further stimulate market growth, with estimates suggesting a compound annual growth rate (CAGR) of approximately 18% in the coming years.

Growing Awareness of Personalized Medicine

The shift towards personalized medicine is becoming a pivotal factor in the whole exome-sequencing market. As healthcare professionals and patients recognize the benefits of tailored treatment plans based on genetic information, the demand for whole exome sequencing is likely to rise. This approach allows for more effective therapies and improved patient outcomes, which is particularly relevant in oncology and rare disease management. In South America, the increasing focus on personalized healthcare solutions is prompting healthcare providers to adopt whole exome sequencing as a standard practice. Consequently, this trend may lead to a substantial increase in market penetration, with projections suggesting a potential market value exceeding $500 million by 2027.

Increasing Prevalence of Genetic Disorders

The rising incidence of genetic disorders in South America is a crucial driver for the whole exome-sequencing market. As healthcare providers and patients become more aware of genetic conditions, the demand for comprehensive genetic testing is likely to increase. Reports indicate that approximately 1 in 300 individuals may be affected by a rare genetic disorder, which underscores the necessity for advanced diagnostic tools. This growing awareness is prompting healthcare systems to integrate whole exome sequencing into routine clinical practice, thereby expanding its market reach. Furthermore, the potential for early diagnosis and personalized treatment plans is driving investments in genetic research and testing facilities, which could enhance the overall landscape of the whole exome-sequencing market in the region.

Technological Advancements in Sequencing Techniques

Technological innovations in sequencing methodologies are driving the evolution of the whole exome-sequencing market. The introduction of next-generation sequencing (NGS) technologies has significantly reduced the cost and time required for whole exome sequencing, making it more accessible to healthcare providers in South America. Enhanced accuracy and efficiency of these technologies are likely to attract more clinical laboratories to offer whole exome sequencing services. Moreover, the development of user-friendly bioinformatics tools is facilitating data analysis, which is essential for interpreting complex genetic information. As a result, the market is expected to expand rapidly, with an anticipated growth rate of around 20% over the next few years.

Market Segment Insights

By Product: Kits (Largest) vs. Services (Fastest-Growing)

In the South America whole exome-sequencing market, kits lead the segment with a significant market share. Their established presence makes them the most preferred option among consumers, driven by the demand for reliable and standardized testing solutions. Services, in contrast, are rapidly gaining ground, appealing to customers seeking personalized and comprehensive analysis, which further diversifies the market share landscape. Growth in the segment is primarily propelled by advancing technology and increasing awareness of genetic disorders. Furthermore, the rising prevalence of hereditary diseases and associated healthcare costs push healthcare providers to adopt whole exome-sequencing. This trend enhances the demand for both kits and services as they play critical roles in disease diagnosis and management, reinforcing their respective positions within the market.

Kits (Dominant) vs. Services (Emerging)

Kits represent the dominant value in this segment, preferred for their convenience and reliability. These products are essential for laboratories and healthcare institutions, designed to provide accurate and efficient sequencing results. The technological advancements in these kits have made them user-friendly and adaptable to various applications. On the other hand, services are emerging rapidly, fueled by the growing need for tailored genetic analysis. Companies offering sequencing services are innovating to provide comprehensive insights and personalized reports, catering to the rising demand for customized healthcare solutions. The competitive landscape between kits and services highlights the shifting focus toward integrated approaches in genetic testing.

By Technology: Sequencing by Synthesis (Largest) vs. ION Semiconductor Sequencing (Fastest-Growing)

In the South America whole exome-sequencing market, Sequencing by Synthesis (SBS) holds a significant share, dominating the landscape due to its high accuracy and reliability in sequencing applications. This technology is preferred by many research institutions and clinical laboratories, contributing to its robust market presence. In comparison, ION Semiconductor Sequencing is gaining traction as a faster and more cost-effective alternative, appealing to a wide range of users, including smaller laboratories and startups looking to leverage genomic analysis for various applications. The growth trends in this segment are driven by advancements in sequencing technologies and increasing demand for genomic studies in personalized medicine and diagnostics. SBS continues to benefit from continuous innovations, improving throughput and reducing turnaround times, while ION Semiconductor Sequencing is emerging as a key player due to its efficient workflow and lower operational costs, fostering a competitive environment. As healthcare systems increasingly adopt genomic solutions, both technologies are poised for expansion in the South American market.

Technology: Sequencing by Synthesis (Dominant) vs. ION Semiconductor Sequencing (Emerging)

Sequencing by Synthesis (SBS) is recognized for its unmatched precision, making it the dominant technology in the South America whole exome-sequencing market. It is widely utilized in clinical research and diagnostics due to its comprehensive data output and established protocols. This established technology benefits from an extensive user base and significant investments in R&D, facilitating continual enhancements. Conversely, ION Semiconductor Sequencing represents the emerging technology in this sphere, noted for its rapid processing times and cost-effective approach. It captures the interest of newer laboratories seeking to integrate genomic sequencing without substantial financial overhead, positioning itself as a viable alternative in a rapidly evolving market.

By Application: Diagnostics (Largest) vs. Drug Discovery and Development (Fastest-Growing)

In the South America whole exome-sequencing market, diagnostics holds the largest market share, significantly leading the way among the applications. This segment benefits from the increasing demand for precision medicine and personalized therapies, which are crucial in improving patient outcomes. Meanwhile, drug discovery and development follow closely behind, showing a promising trend fueled by the rise in investments by biotech companies into innovative drug solutions. Growth trends in this segment are predominantly driven by technological advancements and an increasing focus on genomics in healthcare. As public awareness around genetic disorders and rare diseases grows, the necessity for comprehensive diagnostic tools enhances. Furthermore, the drug discovery and development sector is rapidly evolving, backed by regulatory support and collaboration between academic institutions and the pharmaceutical industry, indicating a bright trajectory for growth and innovation in these segments.

Diagnostics (Dominant) vs. Drug Discovery and Development (Emerging)

The diagnostics segment is characterized by its strong presence in clinical settings, leveraging whole exome sequencing to provide comprehensive insights into genetic conditions. This segment's dominance is attributed to its critical role in disease identification and management, paving the way for tailored treatment approaches. Conversely, drug discovery and development represents an emerging area with immense potential, driven by increasing investments in research and innovation. This application focuses on accelerating the identification of new therapies, utilizing genomic insights to enhance drug efficacy and reduce time-to-market. The collaboration between pharmaceutical entities and research institutions further strengthens its position, signaling a robust future as the market continues to evolve.

By End-User: Hospitals and Diagnostics Centers (Largest) vs. Pharmaceuticals & Biotechnology Companies (Fastest-Growing)

In the End-User segment of the whole exome-sequencing market, hospitals and diagnostics centers hold a significant share, driven by the increased demand for advanced diagnostic solutions. Research centers and government institutes also contribute notably, although their market presence is less pronounced compared to hospitals. Combined, these segments create a competitive landscape that underscores the critical role of healthcare institutions in harnessing genomic data for improved patient outcomes. The growth of this segment is characterized by the rapid adoption of whole exome sequencing technology in pharmaceuticals and biotechnology companies, which are leveraging genomic information to enhance drug development processes. Furthermore, the rise in personalized medicine is pushing hospitals and diagnostics centers to integrate these advanced technologies, facilitating a robust trend toward sustainable growth within this segment as innovations continue to reshape healthcare delivery.

Research Centers and Government Institutes (Dominant) vs. Pharmaceuticals & Biotechnology Companies (Emerging)

Research centers and government institutes are essential players in the South America whole exome-sequencing market, as they lead the charge in research initiatives aimed at understanding genetic diseases and developing treatment protocols. These institutions often receive significant funding, enabling them to invest in state-of-the-art sequencing technologies. Conversely, pharmaceuticals and biotechnology companies, as emerging entities within this segment, are increasingly focusing on whole exome sequencing to inform their research and product development. This trend is fueled by both the need for targeted therapies and the growing importance of genetic research. Consequently, these companies are forming alliances with academic institutions, enhancing their capabilities and contributing to a rich collaborative environment that accelerates innovation.

Get more detailed insights about South America Whole Exome Sequencing Market

Regional Insights

The South America Whole Exome Sequencing Market has shown significant growth opportunities across its regional divisions, including Brazil, Mexico, Argentina, and the Rest of South America. Brazil leads the market with strong investments in healthcare infrastructure and biotechnology initiatives, making it a vital player in the whole exome sequencing landscape. Mexico's expanding Research and Development activities also contribute to its importance within the market, as advancements in genomics bolster its positioning. Argentina plays a critical role due to its government-supported health policies that encourage genomic studies and personalized medicine initiatives.

Meanwhile, the Rest of South America encompasses diverse countries that are increasingly adopting whole exome sequencing technologies, driven by rising healthcare awareness and advancements in genomic research. The collective momentum in the region is fueled by growing demand for personalized medicine, improvements in disease diagnostics, and significant collaborations between academic institutions and biotech firms focusing on genomics innovations. As the South America Whole Exome Sequencing Market evolves, these regional segments are expected to contribute meaningfully to the overall market's development and expansion in the upcoming years.

South America Whole Exome Sequencing Market Region

Source: Primary Research, Secondary Research, Market Research Future Database and Analyst Review

South America Whole Exome Sequencing Market Regional Image

Key Players and Competitive Insights

The whole exome-sequencing market in South America is characterized by a dynamic competitive landscape, driven by advancements in genomic technologies and increasing demand for personalized medicine. Key players such as Illumina (US), Thermo Fisher Scientific (US), and BGI Genomics (CN) are at the forefront, each adopting distinct strategies to enhance their market presence. Illumina (US) focuses on innovation through continuous development of next-generation sequencing technologies, while Thermo Fisher Scientific (US) emphasizes strategic partnerships to expand its product offerings. BGI Genomics (CN) is leveraging its cost-effective solutions to penetrate emerging markets, thereby shaping a competitive environment that is increasingly collaborative yet fiercely competitive.

The business tactics employed by these companies include localizing manufacturing and optimizing supply chains to enhance efficiency and reduce costs. The market structure appears moderately fragmented, with several players vying for market share. However, the collective influence of major companies is significant, as they drive technological advancements and set industry standards, thereby shaping the overall market dynamics.

In October 2025, Illumina (US) announced a partnership with a leading South American healthcare provider to enhance access to genomic testing. This strategic move is likely to expand Illumina's footprint in the region, facilitating the integration of whole exome sequencing into routine clinical practice. Such partnerships may enhance patient outcomes and drive demand for genomic solutions, positioning Illumina as a leader in the market.

In September 2025, Thermo Fisher Scientific (US) launched a new exome sequencing platform tailored for the South American market, which is expected to improve the efficiency and accuracy of genomic analyses. This innovation not only strengthens Thermo Fisher's product portfolio but also addresses the specific needs of local researchers and clinicians, potentially increasing its market share in a competitive landscape.

In August 2025, BGI Genomics (CN) expanded its operations in Brazil by establishing a new facility dedicated to genomic research and development. This expansion is indicative of BGI's commitment to enhancing its capabilities in the region, allowing for localized services and faster turnaround times for genomic testing. Such strategic investments may bolster BGI's competitive position and cater to the growing demand for exome sequencing in South America.

As of November 2025, current trends in the whole exome-sequencing market include a strong emphasis on digitalization, sustainability, and the integration of artificial intelligence (AI) in genomic research. Strategic alliances among key players are increasingly shaping the competitive landscape, fostering innovation and collaboration. Looking ahead, it appears that competitive differentiation will evolve from traditional price-based competition to a focus on technological innovation, reliability of supply chains, and the ability to deliver personalized solutions. This shift may redefine market dynamics, compelling companies to invest in cutting-edge technologies and strategic partnerships to maintain a competitive edge.

Key Companies in the South America Whole Exome Sequencing Market market include

Industry Developments

The South America Whole Exome Sequencing Market has seen notable developments recently, with a focus on expanding access to genomic technologies and increasing adoption in clinical settings. Companies such as Illumina and Thermo Fisher Scientific continue to enhance their market presence, particularly in Brazil and Argentina, where healthcare reforms are encouraging advanced genetic testing. 

Noteworthy is Illumina's initiative in September 2022 to invest in local partnerships, boosting exome sequencing capabilities across the region. In terms of mergers and acquisitions, Macrogen announced in April 2023 the acquisition of a local genomics firm to strengthen its operations in South America, enhancing its service offerings in whole exome sequencing. The growth in market valuation of companies like Fulgent Genetics and Agilent Technologies is evident, with increasing revenues attributed to expanding diagnostic applications and research opportunities. 

Over the last two to three years, significant advancements have occurred, including the implementation of personalized medicine strategies initiated by Roche in August 2021. Furthermore, the overall market growth is being driven by rising awareness of genetic disorders and the need for comprehensive solutions to healthcare challenges across South America.

Future Outlook

South America Whole Exome Sequencing Market Future Outlook

The whole exome-sequencing market is projected to grow at a 2.74% CAGR from 2024 to 2035, driven by advancements in genomics and increasing demand for personalized medicine.

New opportunities lie in:

  • Development of targeted therapies based on exome data analysis.
  • Expansion of exome sequencing services in rural healthcare facilities.
  • Partnerships with biotech firms for innovative diagnostic solutions.

By 2035, the market is expected to achieve substantial growth, driven by technological advancements and strategic collaborations.

Market Segmentation

South America Whole Exome Sequencing Market Product Outlook

  • kits
  • systems
  • services

South America Whole Exome Sequencing Market End-User Outlook

  • research centers and government institutes
  • hospitals and diagnostics centers
  • pharmaceuticals & biotechnology companies

South America Whole Exome Sequencing Market Technology Outlook

  • sequencing by synthesis (SBS)
  • ION semiconductor sequencing

South America Whole Exome Sequencing Market Application Outlook

  • diagnostics
  • drug discovery and development
  • agriculture and animal research

Report Scope

MARKET SIZE 2024173.09(USD Million)
MARKET SIZE 2025177.83(USD Million)
MARKET SIZE 2035233.12(USD Million)
COMPOUND ANNUAL GROWTH RATE (CAGR)2.74% (2024 - 2035)
REPORT COVERAGERevenue Forecast, Competitive Landscape, Growth Factors, and Trends
BASE YEAR2024
Market Forecast Period2025 - 2035
Historical Data2019 - 2024
Market Forecast UnitsUSD Million
Key Companies Profiled["Illumina (US)", "Thermo Fisher Scientific (US)", "Agilent Technologies (US)", "BGI Genomics (CN)", "Roche (CH)", "QIAGEN (DE)", "PerkinElmer (US)", "Fulgent Genetics (US)"]
Segments CoveredProduct, Technology, Application, End-User
Key Market OpportunitiesGrowing demand for personalized medicine drives innovation in the whole exome-sequencing market.
Key Market DynamicsRising demand for personalized medicine drives growth in whole exome-sequencing applications across South America.
Countries CoveredBrazil, Mexico, Argentina, Rest of South America

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FAQs

What is the expected market size of the South America Whole Exome Sequencing Market by 2024?

The South America Whole Exome Sequencing Market is expected to be valued at 216.0 million USD by 2024.

What will the market value of the South America Whole Exome Sequencing Market be by 2035?

By 2035, the South America Whole Exome Sequencing Market is projected to reach 1637.12 million USD.

What is the expected CAGR for the South America Whole Exome Sequencing Market from 2025 to 2035?

The market is expected to experience a compound annual growth rate (CAGR) of 20.217% from 2025 to 2035.

Which country holds the largest market share in the South America Whole Exome Sequencing Market?

Brazil is anticipated to hold the largest market share, with a value of 60.0 million USD in 2024 and projected to reach 450.0 million USD in 2035.

What are the key product segments in the South America Whole Exome Sequencing Market?

The market is segmented into Kits, Sequencers, and Services, with Kits valued at 90.0 million USD in 2024.

How significant is the market size for services in the South America Whole Exome Sequencing Market?

The services segment is valued at 56.0 million USD in 2024 and is projected to reach 437.12 million USD by 2035.

Who are the major players in the South America Whole Exome Sequencing Market?

Key players in the market include Illumina, Fulgent Genetics, PerkinElmer, and Thermo Fisher Scientific, among others.

What market size is projected for the Argentina segment by 2035?

The market size for Argentina is anticipated to reach 200.0 million USD by 2035.

What trends are expected to drive the growth of the South America Whole Exome Sequencing Market?

Key growth drivers include advances in genomic technologies, increasing investments in research and development, and the rising prevalence of genetic disorders.

How is the Rest of South America segment expected to grow by 2035?

The Rest of South America segment is projected to grow from 86.0 million USD in 2024 to 687.12 million USD by 2035.

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