Whole Exome Sequencing Market Research Report Information By Product (Kits, Systems, And Services), By Technology (Sequencing by Synthesis (SBS) And ION Semiconductor Sequencing), By Application (Diagnostics, Drug Discovery and development, And Agriculture and Animal Research), By End-User (Research Centers and Government Institutes, Hospitals and Diagnostics Centers And Pharmaceuticals & Biotechnology Companies), And By Region (North America, Europe, Asia-Pacific, And Rest Of The World) –Market Forecast Till 2034

Whole Exome Sequencing Market Summary

As per MRFR Analysis, the Whole Exome Sequencing Market was valued at 2.16 USD Billion in 2024 and is projected to grow to 13.62 USD Billion by 2034, with a CAGR of 20.20% from 2025 to 2034. The market growth is driven by the increasing use of whole-exome sequencing technology for various applications, including diagnostics and drug development, alongside the rising prevalence of chronic and rare disorders. The technology offers a cost-effective method for genetic disease detection and is less resource-intensive compared to whole-genome sequencing.

Key Market Trends & Highlights

The growing adoption of whole-exome sequencing technology is significantly influencing market dynamics.

• Market Size in 2024: 2.16 USD Billion
• Projected Market Size by 2034: 13.62 USD Billion
• CAGR from 2025 to 2034: 20.20%
• Dominant Segment: Drug discovery and development generated maximum revenue.

Market Size & Forecast

2024 Market Size: USD 2.16 Billion

2025 Market Size: USD 2.60 Billion

2034 Market Size: USD 13.62 Billion

CAGR (2025-2034): 20.20%

Largest Regional Market Share in 2024: North America.

Major Players

Key players include Illumina Inc. (US), BGI (China), Eurofins Scientific (Belgium), Thermo Fisher Scientific (US), and Hoffmann-La Roche Ltd. (Switzerland).

Source Secondary Research, Primary Research, MRFR Database and Analyst Review

Whole Exome Sequencing Market Trends

The growing use of whole-exome sequencing technology is driving the market growth

Market CAGR for whole exome sequencing technology's various applications is driven by the rising number of chronic and rare disorders, the increasing need for customized treatment, and rising next–generation sequencing.  A method for sequencing a genome’s exome and protein-coding genes is called exome sequencing and whole exome sequencing. In this process, the subset of DNA that codes for proteins or exons is chosen, and the exonic DNA is then sequenced utilizing high-throughput DNA sequencing techniques. Additionally, it offers a low-cost screening method for the detection of genetic diseases. It offers a less resource-intensive substitute for whole-genome sequencing in several applications, including drug development processes.

The growing demand for identifying uncommon diseases, expanding genomics and next-generation sequencing R&D, and rising demand for personalized treatment drive the whole exome sequencing market. For Instance In March 2022, As per British Medical Journal article, routine whole exome sequencing for detecting rare children's genetic illnesses is now available for highly selected kids. According to the report, next-generation sequencing enables the rapid and inexpensive sequencing of hundreds or thousands of genes. The advantages of exome sequencing are factors expected to grow the market.

Testing for the genomes of viruses that cause diseases, such as HIV, Cancer, and Covid-19, involves whole exome sequencing. The need for whole exome sequencing is fast expanding along with the prevalence of these disorders. For instance the World Health Organization (WHO) announced in July 2022 that there were 37.7 million HIV cases worldwide in 2021. Due to the rise in these illnesses and the increased demand for RNA sequencing, these genomic sequencing techniques offer information on genetic variations that can cause diseases. Thus, driving the Whole Exome Sequencing market revenue.

Whole Exome Sequencing Market Segment Insights

Whole Exome Sequencing Product Insights

The Whole Exome Sequencing market segmentation, based on product, includes kits, systems, and services. The system segment dominated the market, accounting for maximum market revenue. Next-Generation Sequencing (NGS) and data analysis services provided advanced bioinformatics visualization, allowing researchers to concentrate more on their work than laborious analysis operations. These sequence analysis services provide various services, such as library development from a wide range of samples, experimental planning, and downstream DNA sequence analysis.

Whole Exome Sequencing Technology Insights

The Whole Exome Sequencing market segmentation, based on technology, includes sequencing by synthesis (SBS) and ION semiconductor sequencing. The sequencing by synthesis (SBS) segment generated the most revenue. This technique eliminates mistakes and missed calls by repeating nucleotide strings. SBS technology offers long-insert paired-end reads for de novo sequencing, effective sequence assembly, and other uses, in addition to high-resolution genome sequencing, to short–insertpaired–end reads.

Whole Exome Sequencing Application Insights

The Whole Exome Sequencing market segmentation, based on application, includes diagnostics, drug discovery and developments, and agriculture and animal research. The drug discovery and development segment generated the maximum market revenue. Medical experts may create safer and more efficient treatment plans and drugs for various health disorders thanks to advancements in genetics. This drug discovery and development segment market is driven by the increase in the prevalence of different kinds of cancer, the affordability of personalized drug therapy, the high adoption in developed markets, and the development of novel drugs.

Whole Exome Sequencing End-User Insights

The Whole Exome Sequencing market segmentation, based on end-user, includes research centers and government institutes, hospitals and diagnostics centers, and pharmaceuticals & biotechnology companies. The research centers and government institutes category generated the most income. Research centers and government institutions have offered a clinical diagnosis of chronic diseases such as cardiovascular disorders, Alzheimer’s disease, cancer, and others. Moreover, R& D in the field of genomics is also supporting the segment's growth.

Whole Exome Sequencing Regional Insights

By region, the study provides market insights into North America, Europe, Asia-Pacific and Rest of the World. The North American Whole Exome Sequencing market will dominate this market, owing to an increase in hereditary and chronic diseases. In addition, the growing demand for targeted and personalized drugs will boost the market growth in this region.

Further, the major countries studied in the market report are The US, Canada, German, France, the UK, Italy, Spain, China, Japan, India, Australia, South Korea, and Brazil.

Figure 2 WHOLE EXOME SEQUENCING MARKET SHARE BY REGION 2022 (USD Billion)

Source Secondary Research, Primary Research, MRFR Database and Analyst Review

Europe's Whole Exome Sequencing market accounts for the second-largest market share due to the technological advancement in the field of genomics and the rise in R&D. Further, the German Whole Exome Sequencing market held the largest market share, and the UK Whole Exome Sequencing market the fastest growing market in the European region.

The Asia-Pacific Whole Exome Sequencing Market is expected to rise at the fastest CAGR from 2023 to 2034 due to the rising incidence of genetic abnormalities among people caused by increasing public knowledge of whole exome sequencing. Moreover, China’s Whole Exome Sequencing market held the largest market share, and the Indian Whole Exome Sequencing market was the fastest-growing market in the Asia-Pacific region.

Whole Exome Sequencing Key Market Players & Competitive Insights

Leading market players are investing heavily in research and development to expand their product lines, which will help the Whole Exome Sequencing market, grow even more. Market participants are also undertaking several strategic activities to expand their  footprint, with important market developments including new product launches, contractual agreements, mergers and acquisitions, higher investments, and collaboration with other organizations. The whole Exome Sequencing industry must offer cost-effective items to expand and survive in a more competitive and rising market climate.

Manufacturing locally to minimize operational costs is one of the key business tactics manufacturers use in the  Whole Exome Sequencing industry to benefit clients and increase the market sector. In recent years, the Whole Exome Sequencing industry has offered some of the most significant medical advantages. Major players in the Whole Exome Sequencing market, including Illumina Inc. (US), BGI (China), Eurofins Scientific (Belgium), Thermo Fisher Scientific (US), Agilent Technologies Inc. (US), F.Hoffmann-La Roche Ltd. (Switzerland), GENEWIZ (US), Ambry Genetics (US), Macrogen Inc. (South Korea), Integragen SA (France), and others, are attempting to increase market demand by investing in research and development operations.

Illumina, Inc. (America) is a biotechnology company headquartered in San Diego, California, and it aids more than 140 countries. Illumina, founded on April 1, 1998, creates, produces, and sells integrated systems to study genetic variation and biological function. The business offers a selection of goods and services to cater to the markets for sequencing, genotyping and gene expression, and proteomics. For Instance in February 2023, as per Illumina Inc., the Broad Institute received the first NovaSeqX Plus Machine. The platform will assist parties wishing to access the company’s human whole genome product, lent genome/exome product, and sequencing service.

NanoString Technologies, Inc. is a publicly traded biotech company providing discovery and translation research solutions. The nCounter® Gene Expression System, the GeoMx® Digital Spatial Profiler, the CosMxTM Spatial Molecular Imager, and the AtoMX Spatial Informatics Platform are among the products made by NanoString. With the help of these four systems, researchers may see molecular interactions in three dimensions and understand how genes and proteins are expressed on a multi-genomic level about tissue shape. Products made by NanoString are based on a cutting-edge digital molecular barcoding technique developed at the Institute for Systems Biology by Dr. Leroy Hood. For Instance In May 2022, NanoString Tehnologies, Inc. released a cloud-based process that benefits users of the GeoMx Digital Spatial Profiler and Illumina NextSeq 1000 and NextSeq 2000 sequencing devices.

Key Companies in the Whole Exome Sequencing market include

• Illumina Inc. (US)
• BGI (China)
• Eurofins Scientific (Belgium)
• Thermo Fisher Scientific (US)
• Agilent Technologies Inc. (US)
• Hoffmann-La Roche Ltd. (Switzerland)
• GENEWIZ (US)
• Ambry Genetics (US)
• Macrogen Inc. (South Korea)
• Integragen SA (France)

Whole Exome Sequencing Industry Developments

Illumina has faced significant challenges following recent policy decisions, including a trade war with China and cuts to scientific research funding. China's designation of Illumina as an "unreliable entity" in retaliation for new tariffs has compounded these issues. Domestically, the National Institutes of Health's new caps on research expenses have increased pressure on the company. Additionally, intensified market competition, exemplified by Roche's introduction of a new sequencing machine, has further strained Illumina's market position. Consequently, Illumina's stock has declined by over 25% this year and nearly 70% over the past five years, reflecting its weakened state amidst fierce competition and regulatory hurdles. Despite these setbacks, Illumina maintains its dominant market share by focusing on innovation and emerging genomics markets. 

May 2022 Thermo Fisher Scientific and the Qatar Genome Program (QGP), a division of the Qatar Foundation (QF), come together for advancing genomic studies and therapeutic uses of predictive genomics in Qatar.

February 2021 Labcorp and OmniSeq, a CAP-accredited molecular diagnostic innovation of Rosewell Park Comprehensive Cancer Center, released the launch of OmniSeq INSIGHTsm, a thorough genomic and immunological profiling tissue-based test that incorporates Next Generation Sequencing (NGS) technology. OmniSeq is a CAP-accredited molecular diagnostic invention of Rosewell Park Comprehensive Cancer Center.

Whole Exome Sequencing Market Segmentation

Whole Exome Sequencing Products Outlook

• Kits
• Sequencer
• Services

Whole Exome Sequencing Technology Outlook

• Sequencing by Synthesis (SBS)
• ION Semiconductor Sequencing

Whole Exome Sequencing Application Outlook

• Diagnostics
• Drug Discovery and Development
• Agriculture and Animal Research

Whole Exome Sequencing End-User Outlook

• Research Centers and Government Institutes
• Hospitals and Diagnostics Centers
• Pharmaceuticals & Biotechnology Companies

Whole Exome Sequencing Regional Outlook

North America

• US
• Canada

Europe

• Germany
• France
• UK
• Italy
• Spain
• Rest of Europe

Asia-Pacific

• China
• Japan
• India
• Australia
• South Korea
• Australia
• Rest of Asia-Pacific

Rest of the World

• Middle East
• Africa
• Latin America

Report Attribute/Metric	Details
Market Size 2024	2.16 (USD Billion)
Market Size 2025	2.60 (USD Billion)
Market Size 2034	13.62 (USD Billion)
Compound Annual Growth Rate (CAGR)	20.20 % (2025 - 2034)
Report Coverage	Revenue Forecast, Competitive Landscape, Growth Factors, and Trends
Base Year	2024
Market Forecast Period	2025 - 2034
Historical Data	2020 - 2024
Report Coverage	Revenue Forecast, Market Competitive Landscape, Growth Factors, and Trends
Segments Covered	Product, Technology, Application, End-User, and Region
Geographies Covered	North America, Europe, Asia Pacific, and the Rest of the World
Countries Covered	The US, Canada, German, France, UK, Italy, Spain, China, Japan, India, Australia, South Korea, and Brazil
Key Companies Profiled	Illumina Inc. (US), BGI (China), Eurofins Scientific (Belgium), Thermo Fisher Scientific (US), Agilent Technologies Inc.(US), F. Hoffmann-La Roche Ltd. (Switzerland), GENEWIZ (US), Ambry Genetics (US), Macrogen Inc. (South Korea), Integragen SA (France)
Key Market Opportunities	Strategic alliances among key players & research institutes
Key Market Dynamics	Use of whole exome sequencing technology for varied applications