Global Whole Exome Sequencing Market Size, Share, and Trends Analysis Report – Industry Overview and Forecast to 2032

Get Exclusive Sample PDF of this Report Here

Whole Exome Sequencing Market Analysis

The global whole exome sequencing (WES) market is experiencing significant growth due to the increasing demand for precision medicine and advancements in genetic research. Key drivers fueling this expansion include the rising prevalence of genetic disorders, continuous technological innovations, and decreasing sequencing costs. However, challenges such as the high cost of sequencing infrastructure and complexities in data interpretation hinder market growth. The market is segmented by product (kits and services), technology (sequencing by synthesis, ion semiconductor), and application (diagnostics and research).

Whole Exome Sequencing Market Size

The global whole exome sequencing market size was valued at USD 1.47 billion in 2024 and is projected to reach USD 5.91 billion by 2032, with a CAGR of 19.0% during the forecast period of 2025 to 2032. In addition to the insights on market scenarios such as market value, growth rate, segmentation, geographical coverage, and major players, the market reports curated by the Data Bridge Market Research also include in-depth expert analysis, pricing analysis, brand share analysis, consumer survey, demography analysis, supply chain analysis, value chain analysis, raw material/consumables overview, vendor selection criteria, PESTLE Analysis, Porter Analysis, and regulatory framework.

Whole Exome Sequencing Market Trends

“Shift Towards Advanced Genomic and Personalized Healthcare Solutions”

A key trend in the Whole Exome Sequencing (WES) market is the growing shift towards advanced genomic and personalized healthcare solutions that go beyond traditional diagnostic approaches. As healthcare providers and researchers increasingly focus on precision medicine, WES is gaining significant traction due to its ability to identify genetic variations linked to various diseases. This trend is driven by the rising awareness of genetic predispositions, the need for early disease detection, and advancements in sequencing technologies that enhance accuracy and affordability.

Patients and healthcare professionals are increasingly opting for WES-based solutions for applications such as rare disease diagnosis, oncology, and reproductive health, fostering a more proactive approach to medical care. Additionally, there is a rising demand for ethical and secure genomic data handling, ensuring patient privacy and compliance with regulatory standards as the adoption of genetic testing grows.

As the market continues to expand, WES providers are focusing on improving sequencing efficiency, reducing costs, and integrating artificial intelligence for more precise genomic analysis. This shift not only aligns with the increasing demand for personalized medicine but also supports the broader movement towards data-driven, patient-centric healthcare solutions.

Report Scope and Whole Exome Sequencing Market Segmentation  

Get Exclusive Sample PDF of this Report Here

Whole Exome Sequencing Market Definition

Whole exome is a genomic technique for sequencing all of the protein-coding region of genes in a genome. Whole exome sequencing is available to patients who are searching for a unifying diagnosis for multiple medical conditions. A laboratory process that is used to determine the nucleotide sequence primarily of the exonic (or protein-coding) regions of an individual’s genome and related sequences, representing approximately 1% of the complete DNA sequence, also called WES. Whole-exome sequencing is a widely used whole exome sequencing method that involves sequencing the protein-coding regions of the genome. The human exome represents less than 2% of the genome, but contains ~85% of known disease-related variants, making this method a cost-effective alternative to whole-genome sequencing.

Exome sequencing using exome enrichment can efficiently detect coding variants across a wide range of applications, including population genetics, genetic disease and cancer studies. The growth of the global whole exome sequencing market is attributed to the reduction in time and cost for sequencing. With the development of new technologies and cancer cure treatment, the whole exome sequencing market in clinical oncology has huge potential in the coming years.

Whole Exome Sequencing Market Dynamics       

Drivers

• Increase in the Adoption of Next Generation Sequencing

As genomics-focused pharmacology continues to play a greater role in the treatment of various chronic diseases especially cancer, next-generation sequencing (NGS) is evolving as a powerful tool for providing a deeper and more precise insight at molecular underpinnings of individual tumours and specific receptors.

NGS offers advantages in accuracy, sensitivity and speed compared to traditional methods that have the potential to make a significant impact on the field of oncology. Because NGS can assess multiple genes in a single assay, the need to order multiple tests to identify the causative mutation is eliminated.

• Growing Usage of Targeted Sequencing Methods

As genomics-focused pharmacology continues to play a greater role in the treatment of various chronic diseases especially cancer, next-generation sequencing (NGS) is evolving as a powerful tool for providing a deeper and more precise insight at molecular underpinnings of individual tumours and specific receptors.

NGS offers advantages in accuracy, sensitivity and speed compared to traditional methods that have the potential to make a significant impact on the field of oncology. Because NGS can assess multiple genes in a single assay, the need to order multiple tests to identify the causative mutation is eliminated.

Opportunity

• Strategic Initiatives by the Key Market Player

The demand for whole exome sequencing is increasing in the market owing to the increased incidence of genetic disease along with increased geriatric population across the region. Thus, the top market players have implemented the strategy of collaboration with other market players aimed at improving business operations and profitability.

Restraint

• Less Comprehensive Coverage of Exons

All the exons are not comprehensively captured. The exon of importance may not be included in the current standard annotations of the human genome; and it is merely arduous to cover 100% of the exome with the current WES technology. Consequently, disease-causing variants in these “missed” exons go undetected.

WES has low sensitivity for structural variations, hence detection is limited. Nonetheless some CNVs, including indels and duplications, can be detected by WES, the technical limitation implies that others are likely missed

• Ethical and Legal Issues Related to Whole Exome Sequencing

Rapid advances in high throughput genomic technologies and next generation sequencing are making medical genomic research more readily accessible and affordable, including the sequencing of patient and control whole genomes and exomes in order to elucidate genetic factors underlying disease. Progress of high throughput genomic technologies and next generation sequencing (NGS) methods in recent years has changed the scope of human genomic studies. These advances have made it feasible to routinely perform whole exome sequencing studies.

This market report provides details of new recent developments, trade regulations, import-export analysis, production analysis, value chain optimization, market share, impact of domestic and localized market players, analyses opportunities in terms of emerging revenue pockets, changes in market regulations, strategic market growth analysis, market size, category market growths, application niches and dominance, product approvals, product launches, geographic expansions, technological innovations in the market. To gain more info on the market contact Data Bridge Market Research for an Analyst Brief, our team will help you take an informed market decision to achieve market growth.

Whole Exome Sequencing Market Scope

The market is segmented on the basis of component, product and service, application, end user and distribution channel. The growth amongst these segments will help you analyze meagre growth segments in the industries and provide the users with a valuable market overview and market insights to help them make strategic decisions for identifying core market applications.

Component

• Second-Generation Sequencing
• Third-Generation Sequencing

Product and Services

• Systems
• Kits
• Services

Application

• Diagnostics
• Drug Discovery and Development
• Personalized Medicine
• Agriculture & Animal Research
• Others

End User

• Hospitals & Clinics
• Pharmaceutical & Biotechnology Companies
• Academic & Research Institutes
• Clinical Laboratories
• Others

Distribution Channel

• Direct Trade
• Retail sales
• Others

Whole Exome Sequencing Market Regional Analysis

The market is analyzed and market size insights and trends are provided by country, component, product and service, application, end user and distribution channel as referenced above.

The countries covered in the whole exome sequencing market report are U.S., Canada, Mexico, Germany, France, Italy, U.K., Spain, Netherlands, Russia, Switzerland, Turkey, Belgium, Rest of Europe, Japan, China, India, South Korea, Australia, Singapore, Malaysia, Thailand, Indonesia, Philippines, Vietnam, Rest of Asia-Pacific, Brazil, Argentina, Rest of South America, Saudi Arabia, South Africa, UAE, Israel, Egypt and Rest of Middle East & Africa.

North America is dominating due to the presence of key market players along the largest consumer market with high GDP. U.S. is expected to grow due to rise in technological advancement.

Asia Pacific is expected to grow at a significant growth rate during the forecast period of 2025 to 2032 due to rising healthcare infrastructure, growing research activities, and increasing adoption of advanced diagnostic technologies.

The country section of the report also provides individual market impacting factors and changes in market regulation that impact the current and future trends of the market. Data points such as down-stream and upstream value chain analysis, technical trends and porter's five forces analysis, case studies are some of the pointers used to forecast the market scenario for individual countries. Also, the presence and availability of global brands and their challenges faced due to large or scarce competition from local and domestic brands, impact of domestic tariffs and trade routes are considered while providing forecast analysis of the country data.

Whole Exome Sequencing Market Share

The market competitive landscape provides details by competitor. Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, production capacities, company strengths and weaknesses, product launch, product width and breadth, application dominance. The above data points provided are only related to the companies' focus related to market.

Whole Exome Sequencing Market Leaders Operating in the Market Are:

• Thermo Fisher Scientific Inc.
• QIAGEN
• Illumina, Inc.
• Beckman Coulter, Inc.
• Eurofins Scientific
• BIONEER CORPORATION
• ExoDx (a part of Bio-Techne)
• FOUNDATION MEDICINE, INC. (A subsidiary of F. Hoffmann-La Roche Ltd)
• GeneFirst Limited
• CeGaT GmbH
• Meridian
• Merck KGaA
• SOPHiA GENETICS
• Azenta U.S. Inc.
• CD Genomics
• Twist Bioscience
• PerkinElmer Genomics (A Subsidiary of PerkinElmer Inc.)
• GeneDx, LLC
• Psomagen
• Integrated DNA Technologies, Inc

Latest Development in Whole Exome Sequencing Market

• In May, 2022, Thermo Fisher Scientific, the world leader in serving science, and Qatar Genome Program (QGP), a member of Qatar Foundation (QF), have partnered with the goal of accelerating genomic research and clinical applications of predictive genomics in Qatar as a step toward expanding the benefits of precision medicine across Arab populations globally. This has helped the company to expand its presence.
• In March, 2022, several leading genomics companies and laboratories, including Illumina, Fulgent Genetics, Invitae, GeneDx, and PerkinElmer Genomics, have formed the CardioGenomic Testing Alliance (CGTA), a collaborative group aimed at raising awareness and utilization of genomic testing in cardiology. CGTA seeks to educate healthcare providers and other stakeholders about the value of such testing to assure adherence to existing guidelines from professional medical societies, to inform medical management and cascade testing, and to improve clinical outcomes. This has helped company to adhere to guidelines.

SKU-31110