Whole Exome Sequencing Market Growth, Size, Share, Trends, Key Players Analysis, and Forecast till 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 Code : TIPRE00005519
  • Category : Life Sciences
  • No. of Pages : 150
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Whole Exome Sequencing Market Key Findings by 2031

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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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Market Size Value inUS$ 755.68 Million in 2018
Market Size Value byUS$ 3,812.0 Million by 2027
Growth rateCAGR of 19.8% from 2019-2027
Forecast Period2019-2027
Base Year2019
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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 Report Scope

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
Report Coverage
Report Coverage

Revenue forecast, Company Analysis, Industry landscape, Growth factors, and Trends

Segment Covered
Segment Covered

Products & Service ; Technology ; Applications and Geography

Regional Scope
Regional Scope

North America, Europe, Asia Pacific, Middle East & Africa, South & Central America

Country Scope
Country Scope

US, Canada, Mexico, UK, Germany, Spain, Italy, France, India, China, Japan, South Korea, Australia, UAE, Saudi Arabia, South Africa, Brazil, Argentina

Frequently Asked Questions


Which region dominated the whole exome sequencing market in 2023?

North America region dominated the whole exome sequencing market in 2023.

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.

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.

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.

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.

The Insight Partners performs research in 4 major stages: Data Collection & Secondary Research, Primary Research, Data Analysis and Data Triangulation & Final Review.

  1. Data Collection and Secondary Research:

As a market research and consulting firm operating from a decade, we have published many reports and advised several clients across the globe. First step for any study will start with an assessment of currently available data and insights from existing reports. Further, historical and current market information is collected from Investor Presentations, Annual Reports, SEC Filings, etc., and other information related to company’s performance and market positioning are gathered from Paid Databases (Factiva, Hoovers, and Reuters) and various other publications available in public domain.

Several associations trade associates, technical forums, institutes, societies and organizations are accessed to gain technical as well as market related insights through their publications such as research papers, blogs and press releases related to the studies are referred to get cues about the market. Further, white papers, journals, magazines, and other news articles published in the last 3 years are scrutinized and analyzed to understand the current market trends.

  1. Primary Research:

The primarily interview analysis comprise of data obtained from industry participants interview and answers to survey questions gathered by in-house primary team.

For primary research, interviews are conducted with industry experts/CEOs/Marketing Managers/Sales Managers/VPs/Subject Matter Experts from both demand and supply side to get a 360-degree view of the market. The primary team conducts several interviews based on the complexity of the markets to understand the various market trends and dynamics which makes research more credible and precise.

A typical research interview fulfils the following functions:

  • Provides first-hand information on the market size, market trends, growth trends, competitive landscape, and outlook
  • Validates and strengthens in-house secondary research findings
  • Develops the analysis team’s expertise and market understanding

Primary research involves email interactions and telephone interviews for each market, category, segment, and sub-segment across geographies. The participants who typically take part in such a process include, but are not limited to:

  • Industry participants: VPs, business development managers, market intelligence managers and national sales managers
  • Outside experts: Valuation experts, research analysts and key opinion leaders specializing in the electronics and semiconductor industry.

Below is the breakup of our primary respondents by company, designation, and region:

Research Methodology

Once we receive the confirmation from primary research sources or primary respondents, we finalize the base year market estimation and forecast the data as per the macroeconomic and microeconomic factors assessed during data collection.

  1. Data Analysis:

Once data is validated through both secondary as well as primary respondents, we finalize the market estimations by hypothesis formulation and factor analysis at regional and country level.

  • 3.1 Macro-Economic Factor Analysis:

We analyse macroeconomic indicators such the gross domestic product (GDP), increase in the demand for goods and services across industries, technological advancement, regional economic growth, governmental policies, the influence of COVID-19, PEST analysis, and other aspects. This analysis aids in setting benchmarks for various nations/regions and approximating market splits. Additionally, the general trend of the aforementioned components aid in determining the market's development possibilities.

  • 3.2 Country Level Data:

Various factors that are especially aligned to the country are taken into account to determine the market size for a certain area and country, including the presence of vendors, such as headquarters and offices, the country's GDP, demand patterns, and industry growth. To comprehend the market dynamics for the nation, a number of growth variables, inhibitors, application areas, and current market trends are researched. The aforementioned elements aid in determining the country's overall market's growth potential.

  • 3.3 Company Profile:

The “Table of Contents” is formulated by listing and analyzing more than 25 - 30 companies operating in the market ecosystem across geographies. However, we profile only 10 companies as a standard practice in our syndicate reports. These 10 companies comprise leading, emerging, and regional players. Nonetheless, our analysis is not restricted to the 10 listed companies, we also analyze other companies present in the market to develop a holistic view and understand the prevailing trends. The “Company Profiles” section in the report covers key facts, business description, products & services, financial information, SWOT analysis, and key developments. The financial information presented is extracted from the annual reports and official documents of the publicly listed companies. Upon collecting the information for the sections of respective companies, we verify them via various primary sources and then compile the data in respective company profiles. The company level information helps us in deriving the base number as well as in forecasting the market size.

  • 3.4 Developing Base Number:

Aggregation of sales statistics (2020-2022) and macro-economic factor, and other secondary and primary research insights are utilized to arrive at base number and related market shares for 2022. The data gaps are identified in this step and relevant market data is analyzed, collected from paid primary interviews or databases. On finalizing the base year market size, forecasts are developed on the basis of macro-economic, industry and market growth factors and company level analysis.

  1. Data Triangulation and Final Review:

The market findings and base year market size calculations are validated from supply as well as demand side. Demand side validations are based on macro-economic factor analysis and benchmarks for respective regions and countries. In case of supply side validations, revenues of major companies are estimated (in case not available) based on industry benchmark, approximate number of employees, product portfolio, and primary interviews revenues are gathered. Further revenue from target product/service segment is assessed to avoid overshooting of market statistics. In case of heavy deviations between supply and demand side values, all thes steps are repeated to achieve synchronization.

We follow an iterative model, wherein we share our research findings with Subject Matter Experts (SME’s) and Key Opinion Leaders (KOLs) until consensus view of the market is not formulated – this model negates any drastic deviation in the opinions of experts. Only validated and universally acceptable research findings are quoted in our reports.

We have important check points that we use to validate our research findings – which we call – data triangulation, where we validate the information, we generate from secondary sources with primary interviews and then we re-validate with our internal data bases and Subject matter experts. This comprehensive model enables us to deliver high quality, reliable data in shortest possible time.

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