Whole Exome Sequencing Market Dynamics and Developments by 2031

Historic Data: 2021-2022   |   Base Year: 2023   |   Forecast Period: 2024-2031

Whole Exome Sequencing Market Size and Forecast (2021 - 2031), Global and Regional Share, Trend, and Growth Opportunity Analysis Report Coverage: By Products & Services (Systems, Kits, and Services), Technology (Sequencing by Synthesis, Ion Semiconductor Sequencing, and Other Technologies), Application (Diagnostics, Drug Discovery & Development, Personalized Medicine, and Other Application), and Geography

  • Report Date : Oct 2025
  • Report Code : TIPRE00005519
  • Category : Life Sciences
  • Status : Data Released
  • Available Report Formats : pdf-format excel-format
  • No. of Pages : 150
Page Updated: Feb 2025

The whole exome sequencing market size is projected to reach US$ 1,457.8 million by 2031 from US$ 414.5 million in 2023. The market is expected to register a CAGR of 17.02% during 2023–2031. Incorporation of artificial intelligence and machine learning algorithms and diagnosing and treating cancer using whole exome sequencing are likely to remain key trends in the market.

Whole Exome Sequencing Market Analysis

Whole exome sequencing is the next-generation technique that is widely preferred as a substitute for whole genome sequencing due to its advantages. As the whole sequencing technique reduces the time and cost of analyzing genetics, it also offers a reduction of time spent in the trial and error for the drug formulation. The next-generation sequencing has enabled higher results of the analysis for genotypic and phenotypic relations among the human populations, helping in the development of genetics information for drug development. The significant reduction in the prices and rising technology is leading to the shift towards emphasizing drug development through whole-exome sequencing.

Whole Exome Sequencing Market Overview

Exome sequencing is a widely used technique, and it contains approximately 85% analysis of the variants or mutation-causing diseases. Thus, it is widely used for applications such as genetic disease and population genetics. According to the Genetic Disorders UK, it is estimated that in the UK, nearly one in twenty-five children are diagnosed with a genetic disorder. It also allows researchers to access coding for the tumor-affected regions to diagnose cancer. Moreover, various programs are undergoing to secure and implement precision medicine. For instance, Japan’s National Cancer Center’s genome sequencing and TOP-GEAR genetic testing projects are utilizing data to look for clinical applications to treat cancer. Along with the projects, the private sector and academic institutes have collaborated and are working on the MASTER KEY project. The project is currently working to optimize genomic medicine for rare cancers.

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Whole Exome Sequencing Market: Strategic Insights

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Whole Exome Sequencing Market Drivers and Opportunities

Rising Need for Molecular Diagnosis to Favor Market Growth

Due to the benefits of whole-exome sequencing, it is utilized as a diagnostic tool in regular practice. The technique is mainly utilized to diagnose genetic diseases and cancer. The whole-exome sequencing technique is considered ideal for targeted management of complex conditions such as epilepsy, neuropathy, and other genetic diseases. In addition, whole-exome sequencing allows complete analysis of nearly 23,000 genes in the human genome with the help of next-generation sequencing in a single run. Whole-exome sequencing is advantageous in the fields of research, diagnostics, and clinical settings. Thus, the wide application of whole-exome sequencing in the field of molecular diagnostics and clinical diagnostics is a major drivers of the global whole exome sequencing market share.

Development of Personalized Medicine

The advancement in next-generation sequencing is leading attention toward personalized medicine or precision medicine. The ability to study an individual's entire exome allows medical professionals to tailor treatment regimens based on each patient's unique genetic makeup and disease susceptibility. This personalized approach to healthcare provides the opportunity for extra effective and targeted therapies, leading to improved patient outcomes. Whole exome sequencing has been more widely used in clinical settings due to its increased affordability and accessibility as a result of developments in sequencing technologies and data analysis tools. Thus, the increasing demand for whole exome sequencing due to the rising recognition of the benefits of personalized care is shaping the future of healthcare.

Whole Exome Sequencing Market Report Segmentation Analysis

Key segments that contributed to the derivation of the whole exome sequencing market analysis are products & services, technology, and application.

  • Based on products & services, the whole exome sequencing market is divided systems, kits, and services. Sequencing services, data analysis (bioinformatics) services, and other services are prominent subsegments under the services segment. The kits segment held the largest market share in 2023 and is anticipated to register the highest CAGR during the forecast period.
  • By technology, the market is segmented into ion semiconductor sequencing, sequencing by synthesis, and other technologies. The sequencing by synthesis segment held the largest share of the market in 2023 and is projected to register the highest CAGR during the forecast period.
  • In terms of application, the market is categorized into diagnostics, drug discovery & development, personalized medicine, and other application. The market is further divided on the basis of diagnostics into cancer diagnostics, monogenic (mendelian) disorders diagnostics, monogenic types of diabetes diagnostics, HIV diagnostics, and others diagnostics. The diagnostics segment held a significant share of the market in 2023 and is projected to register the highest CAGR during the forecast period.

Whole Exome Sequencing Market Share Analysis by Geography

The geographic scope of the whole exome sequencing market report is mainly divided into five regions: North America, Asia Pacific, Europe, Middle East & Africa, and South & Central America.

North America has dominated the market. The growth of the market is majorly influenced by the rising incidences of genetic disorders such as sickle cell, thalassemia, and others. The rise in government initiatives in Canada is likely to increase genomic activities across the country. Also, funds have been raised by the government to support the genomics in the region. In addition, rising growth opportunities across Mexico as the country has the potential to support genomic research and the presence of global market players in the field of genomics are factors contributing to the dominance of the market. Asia Pacific is expected to grow with the highest CAGR in the coming years.

Whole Exome Sequencing Market Regional Insights

The regional trends and factors influencing the Whole Exome Sequencing Market throughout the forecast period have been thoroughly explained by the analysts at The Insight Partners. This section also discusses Whole Exome Sequencing Market segments and geography across North America, Europe, Asia Pacific, Middle East and Africa, and South and Central America.

Whole Exome Sequencing Market Report Scope

Report Attribute Details
Market size in 2023 US$ 414.5 Million
Market Size by 2031 US$ 1,457.8 Million
Global CAGR (2023 - 2031) 17.02%
Historical Data 2021-2022
Forecast period 2024-2031
Segments Covered By Products & Services
  • Systems
  • Kits
  • Services
By Technology
  • Sequencing Synthesis
  • Ion Semiconductor Sequencing
  • Other Technologies
By Application
  • Diagnostics
  • Drug Discovery & Development
  • Personalized Medicine
  • Other Application
Regions and Countries Covered North America
  • US
  • Canada
  • Mexico
Europe
  • UK
  • Germany
  • France
  • Russia
  • Italy
  • Rest of Europe
Asia-Pacific
  • China
  • India
  • Japan
  • Australia
  • Rest of Asia-Pacific
South and Central America
  • Brazil
  • Argentina
  • Rest of South and Central America
Middle East and Africa
  • South Africa
  • Saudi Arabia
  • UAE
  • Rest of Middle East and Africa
Market leaders and key company profiles
  • Thermo Fisher Scientific Inc.
  • Illumina, Inc.
  • Centogene AG
  • F. Hoffmann-La Roche AG
  • Psomagen, Inc. (previously Macrogen Corp.)
  • Pacific Biosciences of California, Inc.
  • GENEWIZ, Inc.
  • Bio-Rad Laboratories, Inc.
  • Eurofins Scientific
  • Stratos Genomics

  • Whole Exome Sequencing Market Players Density: Understanding Its Impact on Business Dynamics

    The Whole Exome Sequencing Market is growing rapidly, driven by increasing end-user demand due to factors such as evolving consumer preferences, technological advancements, and greater awareness of the product's benefits. As demand rises, businesses are expanding their offerings, innovating to meet consumer needs, and capitalizing on emerging trends, which further fuels market growth.


    whole-exome-sequencing-market-cagr

    • Get the Whole Exome Sequencing Market top key players overview

    Whole Exome Sequencing Market News and Recent Developments

    The whole exome sequencing market is evaluated by gathering qualitative and quantitative data post primary and secondary research, which includes important corporate publications, association data, and databases. A few of the developments in the whole exome sequencing market are listed below:

    • Illumina Inc. announced that its first product, based on its novel Illumina Complete Long Read technology, is available for order. The high-performance, long-read, human whole-genome sequencing assay – Illumina Complete Long Read Prep, Human – is compatible with the company’s NovaSeq X Plus, NovaSeq X, and NovaSeq 6000 Sequencing Systems. It offers users access to both long- and short-read data on the same Illumina instrument. (Source: Illumina Inc., Press Release, March 2023)
    • Helix, the leading population genomics company, has received de novo authorization from the US Food & Drug Administration (FDA) for the Helix Laboratory Platform, a whole exome sequencing platform with coverage of approximately 20,000 genes. Additionally, Helix also received 510(k) clearance for the Helix Genetic Health Risk App for late-onset Alzheimer's Disease for over-the-counter use on the Helix Laboratory Platform. (Source: Helix, Press Release, January 2021)

    Whole Exome Sequencing Market Report Coverage and Deliverables

    The “Whole Exome Sequencing Market Size and Forecast (2021–2031)” report provides a detailed analysis of the market covering below areas:

    • Whole exome sequencing market size and forecast at global, regional, and country levels for all the key market segments covered under the scope
    • Whole exome sequencing market trends as well as market dynamics such as drivers, restraints, and key opportunities
    • Detailed PEST and SWOT analysis
    • Whole exome sequencing market analysis covering key market trends, global and regional framework, major players, regulations, and recent market developments
    • Industry landscape and competition analysis covering market concentration, heat map analysis, prominent players, and recent developments for the Whole exome sequencing market
    • Detailed company profiles

    Frequently Asked Questions

    1
    Which region dominated the whole exome sequencing market in 2023?
    North America region dominated the whole exome sequencing market in 2023.
    2
    What are the driving factors impacting the whole exome sequencing market?
    Rising need for molecular diagnosis and increasing application in drug discovery are the most influential factors responsible for market growth.
    3
    Which are the leading players operating in the whole exome sequencing market?
    Thermo Fisher Scientific Inc.; Illumina, Inc.; Centogene AG; F. Hoffmann-La Roche AG; Psomagen, Inc. (previously Macrogen Corp.); Pacific Biosciences of California, Inc.; GENEWIZ, Inc.; Bio-Rad Laboratories, Inc.; Eurofins Scientific; and Stratos Genomics are the key players in the whole exome sequencing market.
    4
    What would be the estimated value of the whole exome sequencing market by 2031?
    The estimated value of the whole exome sequencing market accounted for US$ 1,457.8 million in 2031.
    5
    What is the expected CAGR of the whole exome sequencing market?
    The CAGR for whole exome sequencing market accounted for 17.02% during 2023-2031.
    Mrinal Kerhalkar
    Manager,
    Market Research & Consulting

    Mrinal is a seasoned research analyst with over 8 years of experience in Life Sciences Market Intelligence and Consulting. With a strategic mindset and unwavering commitment to excellence, she has built deep expertise in pharmaceutical forecasting, market opportunity assessment, and developing industry benchmarks. Her work is anchored in delivering actionable insights that empower clients to make informed strategic decisions.

    Mrinal’s core strength lies in translating complex quantitative datasets into meaningful business intelligence. Her analytical acumen is instrumental in shaping go-to-market (GTM) strategies and uncovering growth opportunities across the pharmaceutical and medical device sectors. As a trusted consultant, she consistently focuses on streamlining workflow processes and establishing best practices, thereby driving innovation and operational efficiency for her clients.

    • Historical Analysis (2 Years), Base Year, Forecast (7 Years) with CAGR
    • PEST and SWOT Analysis
    • Market Size Value / Volume - Global, Regional, Country
    • Industry and Competitive Landscape
    • Excel Dataset

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