GVR Report cover Whole Exome Sequencing Market Size, Share & Trends Report

Whole Exome Sequencing Market Size, Share & Trends Analysis Report By Product (Instruments, Consumables, Services), By Technology, By Workflow, By Application, By End-use, By Region, And Segment Forecasts, 2023 To 2030

  • Report ID: GVR4318
  • Number of Pages: 0
  • Format: Electronic (PDF)

Whole exome sequencing involves the sequencing of the exons, or protein-coding regions of the genome, which enhances the efficiency of sequence analysis and facilitates the discovery of gene variants. The technique allows to focus on the most relevant portions of the genome and provides a coverage of over 95% of the exons present in a genome. Hence, whole exome techniques have found applications in clinical diagnostics and genomic research which is expected to fuel the market growth in the coming years.

Furthermore, whole exome sequence analysis offers a cost-effective alternative to other sequencing methods as it enables a comprehensive coverage of medically relevant genomic regions. In addition, the technique can easily detect rare and low-frequency mutations which greatly increases its utility as compared to other next-generation sequencing technologies. As a result, several end-users are adopting whole exome analysis approaches to drive advancements in the sequencing domain. For instance, in January 2020, Mayo Clinic undertook a project to create a genomic sequence data library consisting of data from over 100,000 Mayo Clinic participants. The company collaborated with Helix, a genomics company, to utilize its clinical Exome+ sequence analysis technology for the project. Such initiatives are creating new revenue generation opportunities for whole exome analysis product/service providers.

Whole exome studies are expected to witness a significant growth by 2030 due to the rising adoption of personalized medicine and increasing prevalence of chronic and genetic diseases. For instance, as per the American Cancer Society, in 2021, an estimated 1.9 million new cancer cases and over 600,000 deaths attributable to the disease were recorded in the U.S. alone. Such high prevalence of the disease has led to a surge in demand for novel diagnostic techniques, such as whole exome sequencing, that can offer an early, accurate, and cost-effective diagnosis of cancer.

The market is segmented based on product, technology, workflow, application, end-use, and region. The product segment is divided into instruments, consumables, and services. The technology segment is divided into sequencing by synthesis, ION semiconductor sequencing, and others. The workflow segment consists of pre-sequencing, sequencing, and data analysis. The application segment is divided into clinical diagnostics, drug discovery & development, personalized medicine, and others. The end-use segment consists of academic & research institutes, hospitals & clinics, pharmaceutical & biotechnology companies, and others.

The market is anticipated to grow at a rapid pace in the North America, Europe, and Asia Pacific regions. Countries such as the U.S., Canada, the UK, Germany, France, Japan, China, and India are projected to drive the adoption of the technique owing to the rapid economic development and increasing research and development spending in these countries. In addition, key players in this space are undertaking strategic initiatives to establish or maintain their market presence. For instance, in January 2022, Exact Sciences acquired PreventionGenetics, which offers the PGxome whole exome sequencing test, to strengthen its advanced cancer testing portfolio. Such initiatives are expected to intensify the competition and boost the demand for whole exome testing technologies.

Whole Exome Sequencing Market Segmentation








Sequencing by Synthesis

ION Semiconductor Sequencing





Data Analysis


Clinical Diagnostics

Drug Discovery & Development

Personalized Medicine



Academic & Research Institutes

Hospitals & Clinics

Pharmaceutical & Biotechnology Companies



North America (U.S., Canada),

Europe (UK, Germany, France, Italy, Spain, Denmark, Sweden, Norway)

Asia Pacific (Japan, China, India, Australia, Thailand, South Korea)

Latin America (Brazil, Mexico, Argentina),

Middle East & Africa (Saudi Africa, South Arabia, UAE, Kuwait)


Key players operating in the market include Thermo Fisher Scientific, Inc.; Illumina, Inc.; Agilent Technologies, Inc.; BGI; Psomagen; Hoffmann-La Roche Ltd; Azenta US Inc. (GENEWIZ); CD Genomics; Novogene Co, Ltd; Eurofins Genomics. These companies offer a broad range of products and services for whole exome analysis workflows.

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