Whole Exome Sequencing Market Report 2025

The whole exome sequencing market size has grown rapidly in recent years. It will grow from $2.82 billion in 2024 to $3.37 billion in 2025 at a compound annual growth rate (CAGR) of 19.4%. The growth in the historic period can be attributed to genomic research advancements, precision medicine trends, rare disease diagnosis, pharmaceutical and biotech applications, declining sequencing costs.

The whole exome sequencing market size is expected to see exponential growth in the next few years. It will grow to $7.29 billion in 2029 at a compound annual growth rate (CAGR) of 21.3%. The growth in the forecast period can be attributed to expanding applications in oncology, integration in clinical diagnostics, rise in genetic testing demand, population genomics initiatives, emergence of gene therapies. Major trends in the forecast period include enhanced clinical utility and adoption, decreasing costs of sequencing, focus on data security and privacy, integration with electronic health records, advances in single-cell sequencing.

The rising prevalence of HIV (human immunodeficiency virus) is anticipated to drive the growth of the whole exome sequencing market in the future. HIV is a virus that attacks the body’s immune system. Whole exome sequencing provides genomic data about viruses that can be valuable for personalized treatments and vaccine development for HIV. For example, in August 2024, the Minority HIV/AIDS Fund (MHAF), a US-based government agency, reported that in 2023, around 39.9 million people worldwide were living with HIV, which includes 38.6 million adults and 1.4 million children, showing an increase compared to previous years. Consequently, the rising prevalence of HIV is fueling the growth of the whole exome sequencing market.

The rising demand for personalized medicine is also poised to drive the growth of the whole exome sequencing market. Personalized medicine tailors medical treatment to an individual's unique genetic makeup, offering more effective and precise healthcare interventions. Whole exome sequencing is integral to personalized medicine, enabling the customization of treatments based on an individual's genetic profile for precise and targeted therapies. In 2022, the Food and Drug Administration’s Center for Drug Evaluation and Research (CDER) approved 37 new molecular entities (NMEs), with approximately 34% (12 of them) classified as personalized medicines by the Personalized Medicine Coalition (PMC). Hence, the increasing demand for personalized medicine is a significant factor contributing to the growth of the whole exome sequencing market.

A prominent trend gaining traction in the whole exome sequencing market is the adoption of innovative diagnostic techniques. Companies within this market are actively engaged in developing new product innovations to maintain their market positions. For example, in February 2023, Illumina Inc., a biotechnology company based in the United States, introduced the NovaSeqX Plus, a state-of-the-art sequencing technology. This groundbreaking technology combines high throughput and accuracy, featuring streamlined informatics, sustainability advancements, and cost-effective sequencing. The NovaSeq X Plus systems are equipped with innovations capable of generating tens of thousands of whole genomes annually, enhancing productivity, and minimizing turnaround time.

Leading companies in the whole exome sequencing market are developing advanced next-generation sequencing (NGS) ultra-fast technology to improve the speed and accuracy of genetic analyses, facilitating quicker diagnostics and personalized treatment plans in healthcare. This NGS ultra-fast technology enhances whole exome sequencing by rapidly analyzing exonic regions, enabling the swift detection of genetic mutations that are vital for diagnosis and research. For example, in January 2023, Qiagen, a medical devices and healthcare company based in Germany, introduced the CLC Genomics Workbench Premium with Lightspeed technology. This innovation allows for efficient analysis of whole genome sequencing (WGS) and whole exome sequencing (WES) data, processing an entire genome in just 25 minutes for approximately $1 using cloud computing, while also supporting local hardware. By decreasing both time and costs, Lightspeed improves the accessibility of large-scale genetic testing in the WES market.

In January 2022, Exact Sciences, a molecular diagnostics company in the United States, acquired Prevention Genetics for a deal valued at $190 million. This strategic acquisition strengthened Exact Sciences' advanced cancer testing portfolio. Prevention Genetics, a clinical DNA testing laboratory based in the U.S., is known for providing high-quality genetic testing and services to patients and researchers.

Major companies operating in the whole exome sequencing market include Thermo Fisher Scientific Inc., Illumina Inc., Eurofins Genomics, Azenta US Inc., CD Genomics, Psomagen Inc., Agilent Technologies, BGI Genomics, F. Hoffmann-La Roche Ltd., QIAGEN Inc., Macrogen Inc., Ambry Genetics, Bio-Rad Laboratories Inc., Bioneer Corporation, Foundation Medicine Inc., KONICA MINOLTA INC., Otogenetics Corporation, Geneyx Genomex Ltd., ArcherDX Inc., Blueprint Genetics Oy, Bionano Genomics Inc., Centogene AG, Fulgent Genetics Inc., Natera Inc., GeneDx Inc., GENEWIZ Inc., Novogene Corporation, PerkinElmer Inc., Personalis Inc.

North America was the largest region in the whole exome sequencing market in 2024. Asia-Pacific is expected to be the fastest-growing region in the global whole exome sequencing market report during the forecast period. The regions covered in the whole exome sequencing market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa. The countries covered in the whole exome sequencing market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Whole exome sequencing is a genomic sequencing method that involves sequencing all the protein-coding regions within a genome. This laboratory technique is utilized to identify mutations that could be linked to a specific disease.

The primary offerings in the field of whole exome sequencing include systems, kits, and services. The term "system" pertains to the examination of how biological components such as molecules, cells, and organs interact and function. Various technologies, such as sequencing by synthesis, ion semiconductor sequencing, and others, are employed for applications in diagnostics, drug discovery and development, personalized medicine, agriculture, and animal research. These applications are utilized by hospitals and clinics, pharmaceutical and biotechnology companies, academic and research institutes, clinical laboratories, and other entities.

The whole exome sequencing market research report is one of a series of new reports that provides whole exome sequencing market statistics, including the whole exome sequencing industry global market size, regional shares, competitors with a whole exome sequencing market share, detailed whole exome sequencing market segments, market trends, and opportunities, and any further data you may need to thrive in the whole exome sequencing industry. This whole exome sequencing market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenarios of the industry.

The whole exome sequencing market consists of revenues earned by entities by providing services such as exome capture, library construction, deep sequencing, raw data quality control, and bioinformatics analysis. The market value includes the value of related goods sold by the service provider or included within the service offering. The whole exome sequencing market also includes sales of instruments, comparison tools, and sequencing reagents which are used in providing whole exome sequencing services. Values in this market are ‘factory gate’ values, that is the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD, unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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