WHOLE EXOME SEQUENCING MARKET SIZE AND SHARE ANALYSIS - GROWTH TRENDS AND FORECASTS (2024 - 2031)

Whole Exome Sequencing Market Size and Trends

The global whole exome sequencing market is estimated to be valued at USD 1.80 Bn in 2024 and is expected to reach USD 4.72 Bn by 2031, exhibiting a compound annual growth rate (CAGR) of 14.8% from 2024 to 2031.

Discover market dynamics shaping the industry: Request sample copy

The whole exome sequencing industry is expected to witness significant growth during the forecast period. This is mainly due to the increasing applications of whole exome sequencing in various medical domains like oncology, cardiology, and prenatal diagnosis. Whole exome sequencing assists in identifying the mutations and variations in all the protein coding genes. This helps medical professionals to accurately diagnose various genetic conditions and take correct treatment decisions. Moreover, reducing costs of whole exome sequencing technologies is also supporting the adoption of these techniques in clinical settings and biomedical research. Key market players such as Genomatix GmbH are further investing in research and development to launch accurate and affordable whole exome sequencing products, which is anticipated to propel the market growth in the coming years.

Discover high revenue pocket segments and roadmap to it: Request sample copy

Insights By Product Type - Innovation in Instruments Boosts Segment Growth

In terms of product type, the instruments segment is expected to contribute the highest share of the global whole exome sequencing market with a share of 46.8% in 2024 owing to ongoing technological advancements. Continuous innovation in sequencing instrument platforms allows for higher throughput and lower turnaround times at reduced costs. This has enabled wider accessibility and adoption of whole exome sequencing technology across various application areas. Leading vendors in the industry are consistently launching new and upgraded sequencing systems with improved accuracy, speed, and automation.

Insights By Technology - Higher Accuracy Drives Sequencing by Synthesis Segment’s Dominance

In terms of technology, sequencing by synthesis is expected to dominate the global whole exome sequencing market with a share of 43.12% in 2024 owing to its higher accuracy and throughput. The sequencing by synthesis technique is based on sequencing-by-synthesis (SBS) using reversible dye-terminators technology. It demonstrates industry-leading accuracy levels over 99.9% on average reads, ensuring utmost reliability of test results.

Insights By Application - Expanding Diagnostics Propel Drug Discovery & Development Segment Growth

In terms of application, the drug discovery & development segment is expected to dominate the global whole exome sequencing industry with a share of 51.1% in 2024 driven by its expanding use in diagnostics. Whole exome sequencing has emerged as a valuable tool for rare and undiagnosed disease characterization by enabling scientists to investigate entire protein-coding regions of DNA. Identification of causal genes aids the development of targeted therapies. It is also increasingly utilized in clinical trials for pharmacogenomics to minimize adverse reactions.

Regional Insights

To learn more about this report, Request sample copy

Dominating Region: North America

North America dominates the global whole exome sequencing industry with an estimated share of 36.2% in 2024. This can be attributed to factors such as a strong presence of leading diagnostic laboratories and availability of advanced healthcare infrastructure. Government funding towards genomic research and the presence of major market players in the U.S. and Canada have promoted market growth.

Fastest-Growing Region: Asia Pacific

The Asia Pacific region exhibits the fastest growth due to increasing healthcare expenditure, large patient pools, and growing awareness regarding precision medicine. Countries like China, India, Japan, and South Korea are focusing on developing their clinical research prowess and biotechnology sectors.

Whole Exome Sequencing Market Outlook for Key Countries

Accelerated Growth in Whole Exome Sequencing Due to Regulatory Support and Innovations in the U.S.

The U.S. whole exome sequencing industry is aided by supportive regulations and private-public collaborations in the genomics field. Leading diagnostic labs such as Ambry Genetics and Invitae are driving innovative applications. For instance, in July 2024, GeneDx, a biotech commercial company, announced key enhancements to its Whole Genome Sequencing (WGS) offering to accelerate patient diagnoses. The updates include a reduced turnaround time for Rapid WGS (rWGS) results, now available in as little as 5 days, and the introduction of buccal swab samples, making testing more accessible, especially for younger patients.

Strong Government Backing Fuels Rapid Expansion of Whole Exome Sequencing Market in China

China whole exome sequencing market is growing rapidly due to significant government investment in healthcare and genomics. In February 2023, the National Health Commission of China allocated US$ 1.3 trillion to healthcare, with a focus on advancing genomic research and precision medicine. Initiatives like the National Precision Medicine Initiative aim to integrate genomics into clinical practice, enhancing disease diagnosis and treatment. The government's support for low-cost sequencing technologies and collaboration between public research bodies and biotech firms is driving the adoption of WES. These efforts are positioning China as a leader in genomic healthcare, accelerating market growth.

Whole Exome Sequencing Adoption Rises with Focus on Cancer and Rare Disease Diagnosis in Japan

Japan whole genome sequencing market is supported by the country’s strong healthcare infrastructure and government-backed genomics initiatives. A study published by the Japan Cancer Society in April 2023 highlighted a 15% annual increase in the use of whole exome sequencing whole genome sequencing for cancer diagnosis. Additionally, more than 25,000 cases of rare diseases have been diagnosed through genomic sequencing. These developments are solidifying WES as a key tool for both clinical applications and research in Japan.

Rising Demand for Whole Exome Sequencing Driven by Healthcare Initiatives and Genetic Awareness in India

India is driving the growth of the whole exome sequencing market due to rising genetic disease prevalence, government initiatives like the Ayushman Bharat Scheme improving healthcare access, and increasing cancer research. In June 2023, the Ministry of Health reported that 60% of urban hospitals now use genetic testing, including whole genome sequencing, for detecting genetic disorders. Government initiatives like Ayushman Bharat Scheme to improve healthcare access and the expanding biotechnology sector are also driving demand for affordable whole exome sequencing solutions.

Market Concentration and Competitive Landscape

Get actionable strategies to beat competition: Request sample copy

Top Strategies Followed by Global Whole Exome Sequencing Market Players

• Established Players: The leading players in the global whole exome sequencing market focus extensively on research and development to deliver cutting-edge products. Companies like Illumina, Thermo Fisher Scientific, and Agilent Technologies spend over 15% of their annual revenue on R&D. Their dedicated R&D divisions continuously work on developing innovative whole exome sequencing solutions with higher accuracy and throughput.
• Mid-Level Players: Mid-sized companies in the market aim to capture a portion of price-sensitive consumers through cost-effective sequencing solutions. They optimize various processes to reduce production costs without compromising on quality. For instance, maintaining in-house raw material manufacturing helps reduce overall costs. These players also leverage collaborations with research institutions and biotech startups to boost their technology expertise and production capabilities.
• Small-Scale Players: New entrants target specialized market niches left untapped by larger competitors. They introduce innovative products featuring unique analysis capabilities or customized workflows. Their niche focus helps gain a foothold despite limitations in resources and scale.

Emerging Startups in the Global Whole Exome Sequencing Market

Innovative Technologies: Startups are advancing the whole exome sequencing market through highly innovative technologies. Companies like Anthropic and Deep Genomics are developing AI-powered platforms for rapid, low-cost analysis of exome data. Their algorithms can uncover hidden patterns in sequences, aiding disease research. If successfully commercialized, such advanced tools could transform genomic research and widen the market scope.

Sustainable Solutions: Growing awareness about sustainability is driving startups focused on developing eco-friendly products. Ava Technology, for example, works on exome sequencing kits featuring plant-based materials and reduced plastic waste. Their efforts directly address industry sustainability needs and regulatory compliance.

Whole Exome Sequencing Industry News

• On July 30, 2024, GeneDx, a biotech commercial company, improved its Whole Genome Sequencing (WGS) service with faster turnaround (5 days), expanded sample options (buccal swabs), and more repeat expansions covered. These upgrades aim to speed diagnoses, particularly for rare diseases, improving patient outcomes.
• In May 2024, SOPHiA GENETICS, a leader in data-driven medicine, joined forces with tech giants, Microsoft and NVIDIA, to transform healthcare with an advanced, scalable whole genome sequencing (WGS) analytics solution. This collaboration aims to make the solution available to healthcare providers by the end of the year.
• In February 2023, Illumina Inc., a biotechnology company, announced the delivery of its first NovaSeqX Plus system to the Broad Institute. The platform is designed to support research groups accessing sequencing services including the company's human whole genome product and its combined genome/exome product.
• In January 2023, QIAGEN Digital Insights (QDI), the bioinformatics arm of QIAGEN, launched an upgraded version of the QIAGEN CLC Genomics Workbench Premium. This enhanced platform is designed to address data-analysis bottlenecks in next-generation sequencing (NGS), offering significant improvements in analysis speed for more efficient interpretation of whole genome sequencing (WGS), whole exome sequencing, and large panel sequencing data.

Key Takeaways from Analyst

• The global whole exome sequencing market is set for significant growth, driven by technological advancements, decreasing sequencing costs, and increased research funding. WES applications in drug discovery, genetic disorder diagnostics, and personalized medicine will also fuel market opportunities. North America leads the market, supported by major players and high healthcare spending, while Asia Pacific is expected to grow rapidly due to increasing funding, healthcare infrastructure, and rising chronic disease prevalence. However, challenges like a shortage of skilled professionals, high setup costs, and data management issues may hinder growth. Despite these hurdles, the market is poised for robust growth over the next decade.

Market Report Scope

Market Dynamics

Market Driver - Increasing demand for personalized medicine

The personalized medicine segment is driven by factors such as the increasing prevalence of cancers, the affordability of tailored therapies, reduced side effects, and widespread adoption in developed markets. For instance, in August 2022, a pilot project initiated by the Medical Device Innovation Consortium under its Somatic Reference Sample (SRS) Initiative, aimed at refining cancer diagnostics using next-generation sequencing (NGS). NGS, a transformative technology, is unlocking new opportunities in diagnostics and treatment, although it requires rigorous validation to be clinically viable. 

Market Challenge - High costs associated with sequencing and data analysis

The high costs associated with whole exome sequencing and subsequent data analysis pose a major challenge for the growth of the global whole exome sequencing market. The instruments, reagents, and other consumables required for sequencing runs and analytic workflows are very expensive. Additionally, the computational infrastructure and specialized bioinformatics expertise required for processing and interpreting the massive amounts of sequencing data also contributes significantly to the overall costs.

Market Opportunity - Growing adoption of whole exome sequencing in emerging markets

The growing adoption of whole exome sequencing in emerging markets present a major opportunity for players in the global whole exome sequencing market. Countries such as China, India, Brazil, and those across Southeast Asia and Africa are experiencing rapid economic growth and increased healthcare spending. With greater affordability and accessibility, clinical adoption of advanced genomic technologies such as whole exome sequencing is gaining momentum in these developing regions.

Key Stakeholders of Market

What does Growth in the Whole Exome Sequencing Industry mean for Different Stakeholders?

The whole exome sequencing industry has multiple players with varied designations and offers multiple opportunities based on their scope of operations.

Uncover macros and micros vetted on 75+ parameters: Get instant access to report

Market Segmentation

• By Product Type Insights (Revenue, USD Bn, 2019 - 2031)
• • Instruments
  • Consumables
  • Services
• By Technology Insights (Revenue, USD Bn, 2019 - 2031)
• • Sequencing by Synthesis
  • Ion Semiconductor Sequencing
  • Other Technologies
• By Application Insights (Revenue, USD Bn, 2019 - 2031)
• • Drug Discovery & Development
  • Clinical Diagnostics
  • Research
• By Indication Insights (Revenue, USD Bn, 2019 - 2031)
• • Cancer
  • Rare/Inherited Diseases
  • Infectious Diseases
  • Cardiovascular Diseases
  • Neurological Disorders
  • Others
• By End User Insights (Revenue, USD Bn, 2019 - 2031)
• • Hospitals & Clinics
  • Diagnostics Laboratories
  • Academic and Research Institutes
  • Biopharmaceutical Companies
• Regional Insights (Revenue, USD Bn, 2019 - 2031)
• • North America
    • U.S.
    • Canada
  • Latin America
    • Brazil
    • Argentina
    • Mexico
    • Rest of Latin America
  • Europe
    • Germany
    • U.K.
    • Spain
    • France
    • Italy
    • Russia
    • Rest of Europe
  • Asia Pacific
    • China
    • India
    • Japan
    • Australia
    • South Korea
    • ASEAN
    • Rest of Asia Pacific
  • Middle East
    • GCC Countries
    • Israel
    • Rest of Middle East
  • Africa
    • South Africa
    • North Africa
    • Central Africa
• Key Players Insights
• • Illumina, Inc.
  • Thermo Fisher Scientific Inc.
  • BGI Genomics
  • Agilent Technologies, Inc.
  • Roche Diagnostics
  • QIAGEN N.V.
  • Pacific Biosciences of California, Inc.
  • Oxford Nanopore Technologies plc
  • Eurofins Scientific SE
  • Genomatix GmbH
  • Myriad Genetics, Inc.
  • Bio-Rad Laboratories, Inc.
  • F. Hoffmann-La Roche Ltd
  • Laboratory Corporation of America Holdings
  • Novogene Corporation