Global Whole Genome and Exome Sequencing Market: Focus on Product, Workflow, Application, End User, Region, and Competitive Landscape - Analysis and Forecast, 2024-2033

Whole genome sequencing (WGS) and exome sequencing (WES) are cutting-edge genomic technologies that enable comprehensive analysis of an organism's genetic material. WGS involves sequencing the entire genome, encompassing both coding and non-coding regions, providing a complete genetic blueprint. In contrast, WES focuses on sequencing only the exonic regions, which are the protein-coding parts of the genome, representing about 1-2% of the genome but containing the majority of known disease-related variants.

These technologies have revolutionized genomics by offering unprecedented insights into genetic variation, disease mechanisms, and evolutionary biology. Their applications span clinical diagnostics, personalized medicine, oncology, rare disease research, and more, driving significant advancements in healthcare and biomedical research. With continuous technological improvements, decreasing costs, and expanding applications, WGS and WES are becoming indispensable tools in modern genomics.

Market Introduction

The global whole genome and exome sequencing market, initially valued at $1.87 billion in 2023, is poised for substantial growth, projected to reach $7.46 billion by 2033, marking a remarkable compound annual growth rate (CAGR) of 15.13%. This surge reflects the escalating demand for personalized medicine and the increasing prevalence of genetic disorders worldwide. Hereditary genetic testing, a pivotal component of precision healthcare, enables individuals to assess their genetic predispositions to various diseases, empowering them and healthcare providers with invaluable insights for proactive intervention and tailored treatment strategies. As advancements in technology continue to enhance the accuracy and accessibility of genetic testing, the market is primed to revolutionize healthcare delivery, ushering in an era of preventive and personalized medicine on a global scale.

The whole genome and exome sequencing market has been experiencing rapid growth driven by advancements in genomic technologies, decreasing sequencing costs, and the expanding applications of genomic data in precision medicine, diagnostics, and personalized healthcare. Whole genome sequencing (WGS) provides comprehensive insights into the entire genetic makeup of an organism. In contrast, whole exome sequencing (WES) focuses on the coding regions of genes, which are crucial for understanding disease mechanisms. The market has been fueled by increasing demand for genetic testing in oncology, rare disease diagnosis, pharmacogenomics, rising investments in genomics research, and favorable government initiatives supporting genetic research. As a result, the integration of WGS and WES in clinical practice is becoming more prevalent, paving the way for innovative healthcare solutions and improved patient outcomes.

Industrial Impact

The industrial impact of the whole genome and exome sequencing market has been profound, significantly influencing various sectors, including healthcare, pharmaceuticals, biotechnology, and research. In healthcare, the adoption of these sequencing technologies has been transforming diagnostics and treatment strategies by enabling precise identification of genetic mutations and tailored therapeutic interventions. This precision medicine approach not only enhances patient care but also reduces healthcare costs by minimizing trial-and-error treatments. In the pharmaceutical industry, whole genome and exome sequencing have been pivotal in drug discovery and development, allowing for the identification of novel drug targets and biomarkers, thereby accelerating the development of targeted therapies. Biotechnology companies are leveraging these technologies to advance research in gene editing, synthetic biology, and agricultural biotechnology, leading to innovations in crop improvement and sustainable agriculture. Moreover, the increasing use of sequencing in academic and clinical research has been driving scientific discoveries and expanding one’s understanding of genetic diseases and human biology. Overall, the integration of whole genome and exome sequencing across these industries is fostering innovation, improving efficiency, and opening new avenues for economic growth and development.

Market Segmentation

Segmentation 1: by Product

• Kits: Target Enrichment Kits, Library Preparation Kits, and Sequencing Kits
• Instruments

In the global whole genome and exome sequencing market, as of 2023, the kits segment holds the largest share at 62.83%. This dominance can be attributed to the essential role kits play in the sequencing process, encompassing DNA extraction, library preparation, and target enrichment, which are crucial for accurate and efficient sequencing. Kits are widely adopted due to their ease of use, reliability, and cost-effectiveness, streamlining laboratory workflows and ensuring consistent results. This rapid growth is expected to be driven by the increasing need for advanced bioinformatics tools and data analysis services to handle the vast amounts of data generated by sequencing technologies. Software solutions enhance data management, interpretation, and visualization, while services provide technical support, training, and consultancy, making sequencing data more accessible and actionable for clinical and research applications.

Segmentation 2: by Workflow

• Whole Genome Sequencing (WGS): Sample, Extraction/Isolation/Purification, Library Preparation, Library Quantification, and Analysis (Bioinformatics)
• Whole Exome Sequencing (WES): Sample, Extraction/Isolation/Purification, Library Preparation, Library, Quantification, Target Enrichment, and Analysis (Bioinformatics)

Based on workflow, the global whole genome and exome market was led by the WES segment, which held a 64.92% share in 2023. The whole exome sequencing (WES) workflow begins with the extraction, isolation, and purification of DNA from biological samples such as blood or saliva. This is followed by library preparation, where the DNA is fragmented and adaptors are added, and library quantification to ensure accurate DNA concentration. Next, target enrichment involves hybridizing the DNA library with probes that capture the exonic regions, enriching these target sequences. The enriched library is then sequenced using next-generation sequencing (NGS) technology. The resulting data undergoes bioinformatics analysis, where it is aligned to a reference genome, and genetic variations are identified, annotated, and interpreted for their potential impact on gene function and disease association.

Segmentation 3: by Application

• Whole Genome Sequencing (WGS): Oncology, Microbial, Non-Invasive Prenatal Testing (NIPT), and Others
• Whole Exome Sequencing (WES): Oncology, Rare Disease, Gene Discovery, and Others

Segmentation 4: by End User

• Pharmaceutical and Biotechnology Companies
• Diagnostic Laboratories
• Hospitals and Clinics
• Research and Academic Institutes
• Others

In the global whole genome and exome sequencing (WGS and WES) market, as of 2023, the research and academic institutes segment holds the largest share at 39.69%, driven by extensive use in genomic research, significant government funding, and collaborative projects that advance scientific understanding of genetic diseases.

Segmentation 5: by Region

• North America: U.S., and Canada
• Europe: Germany, U.K., France, Italy, Spain, Netherlands, and Rest-of-Europe
• Asia-Pacific: Japan, India, China, Singapore, Australia, and Rest-of-Asia-Pacific
• Latin America: Brazil, Mexico, and Rest-of-Latin America
• Middle East and Africa: South Africa, U.A.E., and Rest-of-Middle East and Africa

The whole genome and exome market in the North America region is expected to witness a significant growth rate of 14.80% during the forecast period, marked by the increasing prevalence of genetic disorders and the growing demand for personalized medicine and robust government initiatives. However, the Asia-Pacific region is expected to reach $1.78 billion in 2033 from $372.9 million in 2023, at a CAGR of 17.26% during the forecast period 2024-2033.

Recent Developments in the Whole Genome and Exome Market

• In April 2024, Eurofins Genomics AgriGenomics Europe, a leading provider of DNA sequencing and genotyping services, partnered with Gencove, a pioneer in low-pass whole genome sequencing (lpWGS) imputation and analysis. This collaboration offers a comprehensive lpWGS solution in Europe, combining Gencove’s data analytics platform with Eurofins’ sequencing capabilities for high-throughput, cost-effective genotyping.
• In April 2024, Labcorp, a global leader in laboratory services, launched Labcorp Plasma Detect, the first clinically validated, tumor-informed, whole-genome sequencing circulating tumor DNA (ctDNA) molecular residual disease (MRD) solution. This test has been designed for early-stage colon cancer to identify patients at increased risk of recurrence post-surgery or adjuvant chemotherapy (ACT).
• In March 2024, Bayer AG and Thermo Fisher Scientific partnered to develop NGS-based companion diagnostic assays (CDx) to identify patients suitable for Bayer’s precision cancer therapies, enabling decentralized genomic testing with rapid results.
• In March 2024, MGI Tech announced a milestone collaboration with Eurofins Genomics Europe Genotyping A/S, marking the first corporate order of the revolutionary DNBSEQ-T20×2 ("T20") ultra-high throughput sequencer in Europe. This order, which includes the ZTRON Appliance and various MGI lab automation products, signifies a significant advancement in precision health initiatives across the continent.
• In January 2024, Eurofins Genomics, a global leader in sequencing services, announced the opening of a new certified sequencing lab in Bothell, Washington, serving the greater Seattle area. This facility leverages Oxford Nanopore's sequencing platform to deliver results within 12 hours from sample pickup. Eurofins Genomics has partnered with 30 local labs in Seattle, conducting daily sample pickups and sequencing for the biotech hub.

Demand - Drivers, Challenges, and Opportunities

Market Demand Drivers:

Growing Applications of Whole Genome and Exome Sequencing in Clinical Diagnostics: The increasing clinical applications of whole genome sequencing (WGS) and whole exome sequencing (WES) are significantly influencing the overall sequencing market. The adoption of WGS in clinical diagnostics for rare diseases is providing a more comprehensive genetic analysis compared to traditional methods. According to a study, “Whole Exome and Genome Sequencing in Mendelian Disorders: A Diagnostic and Health Economic Analysis,” published in Nature Journal in August 2022, WGS can detect a broader range of genetic variants, including those in non-coding regions, which are often missed by WES. This comprehensive detection capability improves diagnostic accuracy, thereby enhancing patient care and outcomes.

Market Challenges:

Privacy and Ethical Concerns due to Increased Risk of Security Breaches: Ethical concerns related to privacy, confidentiality, and the return of results are prominent in the context of sequencing and must be addressed during the informed consent process. The method of data storage is crucial in managing privacy risks for participants. Privacy and ethical concerns have become significant challenges in the whole genome and exome sequencing market, especially with the increasing risk of security breaches.

Market Opportunities:

Increasing Usage of Sequencing Methodologies in Emerging Markets: The increasing application of whole genome and whole exome sequencing in developing countries presents a significant growth opportunity for the global market. As these technologies become more affordable and accessible, they are being integrated into healthcare systems in regions that were previously limited by cost and infrastructure. The availability of these advanced sequencing methods allows for the precise diagnosis and treatment of genetic diseases, which can significantly improve healthcare outcomes in these regions. This integration is facilitated by international collaborations and support from global health initiatives, which aim to enhance the capabilities of local healthcare providers.

How can this report add value to an organization?

Product/Innovation Strategy: The report offers in-depth insights into the latest technological advancements and emerging applications in genome and exome sequencing, enabling organizations to drive innovation and develop cutting-edge products tailored to market needs.

Growth/Marketing Strategy: By providing comprehensive market analysis and identifying key growth opportunities, the report equips organizations with the knowledge to craft targeted marketing strategies and expand their market presence effectively.

Competitive Strategy: The report includes a thorough competitive landscape analysis, helping organizations understand their competitors’ strengths and weaknesses and allowing them to strategize effectively to gain a competitive edge in the market.

Methodology

Key Considerations and Assumptions in Market Engineering and Validation

• The base year considered for the calculation of the market size is 2023. A historical year analysis has been done for the period FY2021-FY2022. The market size has been estimated for FY2023 and projected for the period FY2024-FY2033.
• The scope of this report has been carefully derived based on interactions with experts in different companies across the world. This report provides a market study of upstream and downstream products of whole genome and exome.
• The market contribution of the whole genome and exome technologies anticipated to be launched in the future has been calculated based on the historical analysis of the solutions.
• Revenues of the companies have been referenced from their annual reports for FY2022 and FY2023. For private companies, revenues have been estimated based on factors such as inputs obtained from primary research, funding history, market collaborations, and operational history.
• The market has been mapped based on the available whole genome and exome solutions. All the key companies with significant offerings in this field have been considered and profiled in this report.

Primary Research:

The primary sources involve industry experts in whole genome and exome, including the market players offering products and services. Resources such as CEOs, vice presidents, marketing directors, and technology and innovation directors have been interviewed to obtain and verify both qualitative and quantitative aspects of this research study.

The key data points taken from the primary sources include:

• Validation and triangulation of all the numbers and graphs
• Validation of the report’s segmentation and key qualitative findings
• Understanding the competitive landscape and business model
• Current and proposed production values of a product by market players
• Validation of the numbers of the different segments of the market in focus
• Percentage split of individual markets for regional analysis

Secondary Research 

Open Sources

• Certified publications, articles from recognized authors, white papers, directories, and major databases, among others
• Annual reports, SEC filings, and investor presentations of the leading market players
• Company websites and detailed study of their product portfolio
• Gold standard magazines, journals, white papers, press releases, and news articles
• Paid databases

The key data points taken from the secondary sources include:

• Segmentations and percentage shares
• Data for market value
• Key industry trends of the top players of the market
• Qualitative insights into various aspects of the market, key trends, and emerging areas of innovation
• Quantitative data for mathematical and statistical calculations

Key Market Players and Competition Synopsis

Profiled companies have been selected based on inputs gathered from primary experts and analyzing company coverage, product portfolio, and market penetration.

In 2023, Illumina, Inc. held major share of the whole genome and exome sequencing market, reflecting its leading position and extensive portfolio of advanced sequencing technologies. Thermo Fisher Scientific Inc., Qiagen N.V., Pacific Biosciences (PacBio) and Oxford Nanopore Technologies plc are the other major players with, leveraging its broad range of genomic solutions and strong market presence. The companies are recognized for their innovative sequencing technologies that provide unique capabilities in long-read sequencing and real-time analysis. The competitive landscape, with Illumina leading significantly while other key players continue to innovate and capture niche segments within the market.

Some prominent names established in this market are:

• Agilent Technologies, Inc.
• BGI Group
• Bio-Rad Laboratories, Inc
• Eurofins Scientific SE
• F. Hoffmann-La Roche Ltd
• Illumina, Inc.
• Laboratory Corporation of America Holdings
• Novogene Corporation
• Oxford Nanopore Technologies plc
• Pacific Biosciences of California, Inc.
• QIAGEN N.V.
• Thermo Fisher Scientific Inc.
• Gene by Gene, Ltd.
• ProPhase Labs, Inc.