Home Biotechnology Whole Exome Sequencing Market Size to Surpass USD 9.8 billion at a CAGR of 21.5% by 2032

Whole Exome Sequencing Market

Whole Exome Sequencing Market Size, Share & Trends Analysis Report By Products (Systems, Kits, Services), By Technology (Sequencing by Synthesis, Ion Semiconductor Sequencing, Others), By Applications (Diagnostics, Cancer, Monogenic Disorders, Diabetes, Drug Discovery and Development, Personalized Medicine, Agriculture and Animal Research, Others), By End-user (Research Center, Academic and Government Institutions, Hospitals and Clinics, Pharmaceutical and Biotechnology Companies, Others) and By Region(North America, Europe, APAC, Middle East and Africa, LATAM) Forecasts, 2024-2032

Report Code: SRBI56118DR
Study Period 2020-2032 CAGR 21.5%
Historical Period 2020-2022 Forecast Period 2024-2032
Base Year 2023 Base Year Market Size USD 2 billion
Forecast Year 2032 Forecast Year Market Size USD 9.8 billion
Largest Market North America Fastest Growing Market Europe
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Market Overview

The global whole exome sequencing market size was valued at USD 2 billion in 2023 and is projected to reach USD 9.8 billion by 2032, registering a CAGR of 21.5% during the forecast period (2024-2032). The market expansion is driven by the increased utilization of whole-exome sequencing technology in various applications and research and development.

Whole exome sequencing is a laboratory technique that utilizes several laboratory procedures to complete an organism's genome at a particular moment. Utilizing the entire genome sequence will be crucial in directing therapeutic action in the future of personalized medicine. It is used extensively for detecting and characterizing genetic variations responsible for many disorders, including Miller syndrome and Alzheimer's disease.

The primary drivers of the global whole exome sequencing market include the expanding use of this technology in clinical diagnosis and the rising need for diagnosing rare diseases, the growing investment in genomics and next-generation sequencing research and development, and the increasing need for customized treatment. 


  • Systems generate the highest revenue share based on type.
  • Sequencing by Synthesis (SBS) accounts for the largest market share by technology.
  • Drug discovery and development accounts for the largest market share by application.
  • Hospitals and diagnostics centers account for the largest market share by end user.

Market Dynamics

Global Whole Exome Sequencing Market Drivers

Accessibility and Affordability

The demand for whole exome sequencing products is experiencing tremendous global growth primarily due to the cost factor, among other vital aspects. The cost of whole exome sequencing is diminishing due to advancements in automation, data analysis tools, and various technologies. These technological breakthroughs are simplifying and reducing the cost for healthcare facilities and researchers to utilize whole-exome sequencing to analyze genetic information. 

Furthermore, in 2022, a collaboration was announced between a healthcare provider from China and BGI Genomics to offer comprehensive genetic sequencing services for individuals with cancer. This partnership exemplifies the growing appeal of the whole exome sequence in therapeutic contexts, attributed to its accessibility and affordability. The utilization of this technology by healthcare practitioners to diagnose and treat a range of disorders is on the rise, and it holds promising prospects for advancing genetic medicine in whole-exome sequences.

Increasing Adoption of Whole Exome Sequencing

The global market is experiencing significant expansion because of the increasing use of next-generation sequencing techniques in predicting, treating, and monitoring many chronic diseases, including cancer. Sequencing the exome of cancer cells yields crucial insights into the specific genetic abnormalities that drive the growth and spread of tumors. Because the exome makes up less than 2% of the genome, using cancer exome sequencing is a more economical option compared to sequencing the entire genome. Exome sequencing yields a data set that is more convenient than whole-genome techniques.

Furthermore, the whole-exome sequencing market is propelled by the cost-effectiveness and rapidity of whole-exome sequencing technology, the progress made in whole-exome sequencing methodologies, and the collaborative efforts of prominent research institutes worldwide. In addition, in May 2021, Baylor Genetics implemented Rapid Trio Whole Exome Sequencing, which reduced its turnaround time from seven to five days. In addition, a study conducted by New York University found that Whole Exome Sequencing can accurately predict patients' responses to Cancer Immunotherapy.

Global Whole Exome Sequencing Market Restraints

Lack of Skilled Personnel and Deprived Government Support 

The worldwide Whole Exome Sequencing (WES) industry encounters notable obstacles due to the need for more proficient professionals and insufficient government backing. Proficiency in performing and efficiently interpreting the results of WES, a potent tool in genetic research, necessitates a high level of competence. Nevertheless, the scarcity of proficient workers in the sector arises from the limited accessibility of the specific knowledge and training required for WES. 
Furthermore, government assistance is essential in promoting genomic technologies such as WES by providing financial support for research projects, creating regulatory structures, and fostering collaboration among academics, industry, and healthcare providers. Nevertheless, numerous governments still need to give genomic research a high level of importance or provide adequate resources to foster its development, hence constraining the growth of the WES sector.

Moreover, these obstacles obstruct the extensive implementation of WES in clinical environments and hamper its potential to transform personalized medicine. Suppose there needs to be a proficient workforce and sufficient government support. In that case, the rate of innovation in WES may be slower than expected, which would restrict its influence on healthcare outcomes and the wider biotechnology sector. 

Global Whole Exome Sequencing Market Opportunity

Rising Demand for Personalized Treatment

The whole exome sequencing sector is expanding due to the increasing need for individualized medical care. Anticipated market expansion is expected with the introduction of novel diagnostics and tests. Medical professionals can identify a patient's distinct genetic abnormalities and disease susceptibility by utilizing whole-exome sequences. Whole exomes enable doctors to create more personalized and effective patient treatment strategies. 
For example, Natera's Signature, a test that utilizes whole exome sequencing, has received the FDA's breakthrough device designation. This test facilitates the surveillance of tumor recurrence. For instance, a patient who has received therapy for a solid tumor might utilize this test to monitor the reappearance of cancer and detect any residual disease. Signatera's study of circulating tumor DNA enables the identification of genetic alterations linked to cancer and allows for monitoring the patient's response to treatment. The FDA's classification of a breakthrough device as a significant regulatory accomplishment accelerates advancing and evaluating state-of-the-art medical devices. The text highlights the potential benefits of exome sequence-based diagnostics in identifying and treating cancer.

In summary, the increasing utilization of whole exome sequences in personalized medicine is a captivating advancement that can fundamentally transform our approach to healthcare.

Regional Analysis

The global whole exome sequencing market analysis is conducted across North America, Europe, Asia-Pacific, the Middle East and Africa, and Latin America.

North America  Dominates the Global Market

North America is the most significant global whole exome sequencing market shareholder and is estimated to grow at a CAGR of 21.2% over the forecast period. The main drivers of the whole-exome sequencing market's growth include the rising occurrence of hereditary and chronic illnesses like cancer, the aging population, the increasing need for tailored and individualized therapy, and supportive government initiatives. Based on the October 2022 updates from HIV.gov, about 1.2 million individuals in the United States are impacted by HIV. Consequently, the escalating prevalence of infectious diseases is projected to drive the demand for their diagnosis, thereby stimulating the expansion of the market over the forecast period.

Additionally, the market in the region is being propelled by mergers, acquisitions, launches, and collaborations among the major players. In January 2021, Helix OpCo, LLC obtained de novo authorization from the United States Food and Drug Administration (USFDA) for the Helix Laboratory Platform. This platform utilizes whole exome sequencing and covers around 20,000 genes. This is the inaugural instance in which the United States Food and Drug Administration (USFDA) has authorized a sequencing-based device of such broad scope. Helix has obtained 510(k) clearance for the Helix Genetic Health Risk App for late-onset Alzheimer's Disease. This clearance allows for over-the-counter usage of the app on the Helix Laboratory Platform.

Therefore, due to the factors above, including the increasing occurrence of infectious diseases and the introduction of new products, the market is anticipated to experience substantial growth throughout the projected timeframe in the region.

Europe is anticipated to exhibit a CAGR of 21.7% over the forecast period. The Whole Exome Sequencing market in Europe holds the second-largest market share, primarily driven by technological advancements in genomics and increased research and development activities. The German Whole Exome Sequencing market had the highest market share in the European region, while the UK Whole Exome Sequencing market experienced the most rapid growth.

The Asia-Pacific whole exome sequencing market exhibits the highest rate of growth. The regional expansion can be attributed to the increased prevalence of genetic disorders among individuals due to the growing public awareness of whole exome sequencing. China's Whole Exome Sequencing market had the highest market share, while the Indian Whole Exome Sequencing market experienced the most rapid growth in the Asia-Pacific region.

Report Scope

Report Metric Details
By Products
  1. Systems
  2. Kits
  3. Services
By Technology
  1. Sequencing by Synthesis
  2. Ion Semiconductor Sequencing
  3. Others
By Applications
  1. Diagnostics
  2. Cancer
  3. Monogenic Disorders
  4. Diabetes
  5. Drug Discovery and Development
  6. Personalized Medicine
  7. Agriculture and Animal Research
  8. Others
By End-user
  1. Research Center
  2. Academic and Government Institutions
  3. Hospitals and Clinics
  4. Pharmaceutical and Biotechnology Companies
  5. Others
Company Profiles Thermo Fisher Scientific, Inc. Illumina, Inc Agilent Technologies, Inc BBG PacBio Oxford Nanopore Technologies plc. Azenta US Inc. (GENEWIZ) CD Genomics Novogene Co Ltd Eurofins Genomics
Geographies Covered
North America U.S. Canada
Europe U.K. Germany France Spain Italy Russia Nordic Benelux Rest of Europe
APAC China Korea Japan India Australia Singapore Taiwan South East Asia Rest of Asia-Pacific
Middle East and Africa UAE Turkey Saudi Arabia South Africa Egypt Nigeria Rest of MEA
LATAM Brazil Mexico Argentina Chile Colombia Rest of LATAM
Report Coverage Revenue Forecast, Competitive Landscape, Growth Factors, Environment & Regulatory Landscape and Trends
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Segmental Analysis

The global whole exome sequencing market is segmented based on product, technology, application, and end-user

The market is segmented into Kits, Systems, and Services based on product. 

The system segment dominated the market in 2023. Advanced bioinformatics visualization services are offered for Next-Generation Sequencing (NGS) and data processing, enabling researchers to focus on their work rather than time-consuming analysis tasks. These sequence analysis services include constructing libraries from diverse materials, designing experiments, and analyzing DNA sequences in subsequent stages.

The services segment is the fastest growing. The increasing utilization of whole exome sequence services by healthcare practitioners and research organizations is driven by the intricate nature of the method, leading to the expansion of the market. Specialized tools, knowledge, and experience are necessary for properly analyzing and interpreting data. As a result, many organizations now employ specialized agencies to manage their sequencing requirements. Consequently, the market for whole exome sequencing services will experience growth shortly.

The market is segmented based on technology into Sequencing by Synthesis (SBS) and ION Semiconductor Sequencing. 

The sequencing by synthesis (SBS) segment dominated in 2023. This method eradicates errors and overlooked phone calls by duplicating sequences of nucleotides. SBS technique provides long-insert paired-end reads for de novo sequencing, efficient sequence assembly, and various other applications, along with high-resolution genome sequencing using short-insert paired-end reads.

The ION semiconductor sequencing segment is the fastest growing. This is attributed to its capacity to offer efficient screening with reduced time and expense. Due to significant enhancements in accuracy, this approach can rival other sequencing technologies. Furthermore, ION semiconductor sequencing technology is suitable for targeted sequencing applications, a crucial aspect of tailored medications. Consequently, the ION semiconductor sequencing segment is being driven by the increasing demand for customized medicine and targeted sequencing.

Based on application, the market is segmented into Diagnostics, Drug Discovery and Development, and Agriculture and Animal Research. 

The drug discovery and development segment dominated in 2023. Advancements in genetics enable medical specialists to develop safer and more efficient treatment plans and medications for a wide range of health issues. The growth of the segment market is primarily fueled by the rising incidence of various types of cancer, the accessibility of personalized drug therapy, the widespread acceptance in developed countries, and the innovation of new pharmaceuticals.

The diagnostics segment is the fastest growing due to the growing utilization of whole exome sequencing in clinical environments. Sequencing technology in diagnostic processes conducted by clinical laboratories has become more practical and economically viable due to the declining costs of sequencing technology and the increasing accessibility of data processing software. The demand for this approach in clinical diagnostics is expected to rise as precision medicine becomes more prominent in healthcare, driving faster growth.

Agriculture and animal research firms are crucial in the entire exome sequencing industry as they provide genetic analysis for breeding, disease resistance, and trait selection in crops and livestock. Their contributions propel progress in genomic technologies, improving agricultural productivity, sustainability, and animal welfare through informed breeding methods and genetic interventions.

Based on end-users, the market is segmented into research centers and government institutes, hospitals and diagnostic centers, and pharmaceuticals and biotechnology companies. 

The research centers and government institutes category dominated in 2023. Research centers and government institutes have provided clinical diagnoses for chronic conditions such as cardiovascular illnesses, Alzheimer's disease, cancer, and other ailments. Additionally, research and development in the field of genetics is also contributing to the expansion of this industry. 

The hospitals and diagnostics centers are the fastest growing. The growing need for sophisticated diagnostic and treatment instruments in healthcare facilities is important. In addition, the affordability of technology and the greater accessibility of analytic tools have enhanced the reliability and cost-effectiveness of integrating whole exome sequencing into the regular clinical practice of hospitals and clinics.

Pharmaceuticals and biotechnology companies are the second largest. Pharmaceutical and biotechnology businesses are crucial in the entire exome sequencing market as they lead innovation, develop sequencing technologies, and carry out clinical trials to confirm the effectiveness of genetic tests. Additionally, they provide easier access to sequencing services, promoting the broader implementation of precision medicine strategies for illness diagnosis and therapy.

Market Size By Products

Recent Developments

Top Key Players

Thermo Fisher Scientific, Inc. Illumina, Inc Agilent Technologies, Inc BBG PacBio Oxford Nanopore Technologies plc. Azenta US Inc. (GENEWIZ) CD Genomics Novogene Co Ltd Eurofins Genomics Others

Frequently Asked Questions (FAQs)

How big is the Whole Exome Sequencing Market?
The global whole exome sequencing market size was valued at USD 2 billion in 2023 and is projected to reach USD 9.8 billion by 2032, registering a CAGR of 21.5% during the forecast period (2024-2032).
North America has the highest growth in the global market.
Key verticals adopting the market include: Thermo Fisher Scientific, Inc., Illumina, Inc, Agilent Technologies, Inc, BBG, PacBio, Oxford Nanopore Technologies plc., Azenta US Inc. (GENEWIZ), CD Genomics, Novogene Co Ltd, Eurofins Genomics
Accessibility and Affordability is the key driver for the growth of the global market
Sequencing by Synthesis (SBS) accounts for the largest market share by technology.

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