Global Whole Exome Sequencing Market Size and Share Analysis 2023-2028

Market Overview

The Whole Exome Sequencing Market is projected to experience substantial growth, increasing from USD 1,686.6 million in 2023 to USD 3,840.6 million by 2028, with a compound annual growth rate (CAGR) of 17.89% during the forecast period (2023-2028).

Exome sequencing is a technique that involves sequencing the exons and protein-coding genes in a genome. It selectively targets the DNA subset responsible for encoding proteins, followed by high-throughput DNA sequencing of the exonic DNA. This approach offers a cost-effective screening method for diagnosing genetic disorders and serves as a less resource-intensive alternative to whole-genome sequencing, particularly in drug discovery and development processes.

Product Type

Market Report

No. of Pages


Release Date

April 2023

Base Year


Forecast Period


Market Size

USD 1.5 billion in 2021

Market Segments

Product, End User, Application, and Geography



No. of Companies Mentioned


The outbreak of the COVID-19 pandemic prompted the pharmaceutical industry to prioritize the development of therapeutic and preventive interventions. Clinical sequencing, including whole exome sequencing, played a crucial role in expanding safety testing for combating the pandemic. The impact of COVID-19 on the whole exome sequencing market has been significant. For example, a study published in PLOS ONE in January 2022 concluded that COVID-19 syndrome caused notable alterations in the blood transcriptome, which were analyzed using RNAseq and verified through digital droplet PCR (ddPCR) on specific targets. Such studies contribute to the use of whole exome sequencing in understanding the progression of COVID-19, thereby driving the market’s growth in the coming years. Consequently, due to the increasing RNA and DNA sequencing-based research and development activities aimed at developing diagnostic tools and effective therapeutics for COVID-19, the market is expected to maintain a significant growth rate during the forecast period.

The key drivers of the global whole exome sequencing market include the expanding applications in clinical diagnosis, the growing demand for diagnosing rare diseases, increased research and development in genomics and next-generation sequencing, and the rising demand for personalized medicine. For instance, an article published in the British Medical Journal in March 2022 reported that whole exome sequencing is now available for selected patients in routine diagnosis of rare childhood genetic diseases. Next-generation sequencing enables the rapid and cost-effective sequencing of hundreds or thousands of genes. The benefits of exome sequencing are expected to drive market growth over the forecast period.

Furthermore, whole exome sequencing is utilized in testing the genomes of viruses that cause various diseases, such as HIV, cancer, and COVID-19. With the growing prevalence of these diseases, the demand for whole exome sequencing is also increasing rapidly. In July 2022, the World Health Organization (WHO) reported 37.7 million global cases of HIV in 2021. Genomic sequencing methods provide valuable information on genetic variants that contribute to disease development due to the rising prevalence of such conditions, further driving the demand for RNA sequencing.

The increasing research and development in the genomics and next-generation sequencing field is another driver of the market. For instance, in May 2022, NanoString Technologies, Inc. introduced a cloud-based workflow that enhances the spatial data analysis experience for customers using Illumina NextSeq 1000 and NextSeq 2000 sequencing systems and the GeoMx Digital Spatial Profiler. This integrated, push-button run planning tool simplifies the spatial analysis of whole transcriptomes combined with proteome analytes. Such advancements are expected to drive market growth.

Despite the positive outlook, several factors may hinder the market’s growth, including the high complexity of the technique, the need for skilled personnel, and legal and ethical issues associated with whole exome sequencing. Nevertheless, considering the aforementioned factors, significant growth is expected in the market over the forecast period.

Market Segmentation

The market is segmented based on various factors, including product, end user, application, and geography.

Segmentation by Product

Segmentation by End User
Second-Generation Sequencing – Sequencing, by Synthesis (SBS), Sequencing, by Hybridization and Ligation (SBL)
Third-Generation Sequencing

Segmentation by Application
Drug Discovery and Development
Personalized Medicine
Other Applications (Agriculture, Animal Research, etc.)

Segmentation by Geography
North America – United States, Canada, Mexico
Europe – United Kingdom, Germany, France, Italy, Spain, and Rest of Europe
Asia-Pacific – China, Japan, India, Australia, South Korea, and Rest of Asia-Pacific
Latin America – Brazil, Argentina, and Rest of Latin America
Middle East and Africa – GCC, South Africa, and Rest of Middle East and Africa

Personalized medicine, also known as precision medicine or individualized medicine, aims to provide customized therapies based on the unique genetic makeup of each patient. This approach has gained popularity in recent years due to advancements in genetics and a deeper understanding of how genes influence health, development, and response to drugs. By tailoring treatments to individual patients, medical professionals can develop safer and more effective methods for various health conditions.

The personalized medicine segment is driven by several factors. The rise in the prevalence of cancer and other diseases, the affordability of personalized medicine therapy, fewer side effects compared to traditional treatments, high adoption in developed markets, and the development of innovative drugs all contribute to its growth. For example, the Medical Device Innovation Consortium launched a somatic reference samples (SRS) initiative in August 2022 to improve the validation and regulatory review process for cancer diagnostics based on next-generation sequencing (NGS). This technology plays a crucial role in diagnostics and therapeutic breakthroughs, and reference samples are essential for proper validation.

Strategic activities such as partnerships, mergers and acquisitions, and product launches by market players are expected to further propel the growth of the personalized medicine segment. Illumina Inc. announced oncology partnerships with Bristol Myers Squibb, Kura Oncology, Myriad Genetics, and Merck in January 2021 to advance comprehensive genomic profiling for precision oncology. In June 2021, Labcorp and OmniSeq launched OmniSeq INSIGHTsm, a comprehensive genomic and immune profiling test.

The North American region holds a significant market share in the whole exome sequencing market. Factors such as the increasing prevalence of genetic and chronic disorders like cancer, the aging population, the demand for targeted and personalized medicine, and favorable government initiatives contribute to the region’s growth. The growing burden of infectious diseases, including HIV, is expected to drive the demand for diagnosis, further boosting the market’s growth.

Mergers, acquisitions, launches, and partnerships among key players in the market also drive growth in North America. For example, Helix OpCo, LLC received authorization from the United States Food and Drug Administration (USFDA) for the Helix Laboratory Platform in January 2021, marking the first authorization for a broad, sequencing-based device. BG introduced Rapid Trio Whole Exome Sequencing in May 2021, reducing turnaround time, while Centogene N.V. launched NEW CentoXome, an improved next-generation sequencing-based assay, in June 2021.

Considering the growing prevalence of infectious diseases and the introduction of new products, the North American market is expected to experience significant growth over the forecast period.

Competitive Landscape

The whole exome sequencing market exhibits a moderately consolidated nature, primarily due to the presence of a limited number of companies operating on a global and regional scale. The competitive landscape comprises an analysis of both international and domestic companies that possess significant market shares and enjoy a well-established reputation. These companies include Bio-Rad Laboratories Inc., Eurofins Scientific Group, F. Hoffmann-La Roche AG, illumine Inc., and Thermo Fisher Scientific Inc. Other notable players in the market include KONICA MINOLTA, INC. (Ambry Genetics), Beijing Genomics Institute, Azenta, Inc., Psomagen, Inc (Macrogen Inc.), PerkinElmer Inc., GENEYX GENOMEX, CD Genomics, QIAGEN Inc., and several others.

Recent Industry Developments

In February 2023, Illumina Inc. announced the delivery of its inaugural NovaSeqX Plus system to the Broad Institute. This platform will provide support to various groups seeking access to Illumina’s sequencing service, including the company’s human whole genome product and blended genome/exome product.

In May 2022, the Qatar Genome Program (QGP), a division of the Qatar Foundation (QF), established a partnership with Thermo Fisher Scientific. The objective of this collaboration is to advance genomic research and enhance the clinical applications of predictive genomics in Qatar. This partnership represents a significant step towards extending the benefits of precision medicine to Arab populations.

Key Questions Answered

What is the anticipated size of the Whole Exome Sequencing Market?
The Whole Exome Sequencing Market is expected to reach a size of USD 1,686.6 million in 2023, with a projected growth rate of 17.89% to reach USD 3,840.6 million by 2028.

What is the current size of the Whole Exome Sequencing Market?
In 2023, the Whole Exome Sequencing Market is expected to reach a size of USD 1,686.6 million.

Who are the major players in the Whole Exome Sequencing Market?
The major companies operating in the Whole Exome Sequencing Market are Bio-Rad Laboratories Inc., Eurofins Scientific Group, F. Hoffmann-La Roche AG, Illumina Inc., and Thermo Fisher Scientific Inc.

Which region is experiencing the highest growth in the Whole Exome Sequencing Market?
Asia-Pacific is projected to have the highest compound annual growth rate (CAGR) during the forecast period (2023-2028).

Which region holds the largest market share in the Whole Exome Sequencing Market?
In 2023, North America accounts for the largest market share in the Whole Exome Sequencing Market.

Original price was: USD 4,750.Current price is: USD 2,850.

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Global Whole Exome Sequencing Market Size and Share Analysis 2023-2028

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Global Whole Exome Sequencing Market Size and Share Analysis 2023-2028

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