Whole Genome and Exome Sequencing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Product (Kits, Instruments), By Workflow (Whole Genome Sequencing (WGS) Whole Exome Sequencing (WES)), By Application (Oncology, Microbial, Non-Invasive Prenatal Testing (NIPT), Others), By End User(Pharmaceutical and Biotechnology Companies, Diagnostic Laboratories, Hospitals and Clinics, Research and Academic Institutes, Others), By Region and Competition, 2021-2031F

Market Overview

The Global Whole Genome & Exome Sequencing Market will grow from USD 3.24 Billion in 2025 to USD 6.93 Billion by 2031 at a 13.51% CAGR. The Global Whole Genome & Exome Sequencing Market comprises technologies and services designed to determine the complete DNA sequence of an organism or its protein-coding exome regions. The market’s expansion is fundamentally supported by the plummeting costs of high-throughput sequencing and the imperative shift toward precision medicine, which necessitates comprehensive genomic profiling for tailored patient care. These factors are instrumental in accelerating pharmaceutical research and improving clinical diagnostic accuracy for complex genetic conditions. According to the Personalized Medicine Coalition, in 2024, it was reported that personalized medicines accounted for approximately 38 percent of all newly approved therapeutic molecular entities, highlighting the critical reliance on genomic data for modern drug development.

However, a significant challenge impeding broader market expansion is the complexity associated with managing and interpreting the massive datasets generated by these sequencing technologies. The requirement for substantial computational storage and advanced bioinformatics expertise creates a bottleneck for many healthcare institutions. Additionally, stringent regulatory compliance regarding data privacy and the ethical handling of patient genetic information complicates the cross-border sharing of data, potentially limiting the global scalability of collaborative research initiatives.

Key Market Drivers

The substantial decline in sequencing costs and turnaround times acts as a primary catalyst for market growth, driven largely by the rollout of high-throughput platforms. These technological improvements allow laboratories to process vast libraries of genomic data at a fraction of historical prices, making whole genome sequencing accessible for routine clinical use rather than just specialized research. This operational shift creates a feedback loop where lower costs stimulate higher adoption rates, prompting manufacturers to distribute more advanced machinery to meet the needs of diagnostic centers and research facilities. According to Illumina, February 2024, in the 'Full Year 2023 Financial Results', the company reported shipping 352 NovaSeq X instruments during 2023, signaling a strong industrial shift toward these more efficient and cost-effective sequencing technologies.

Concurrently, the expansion of large-scale government genomic initiatives and research funding is significantly fueling demand for sequencing services. Nations are investing heavily in population-level studies to understand genetic diversity, which directly translates to sustained workflows for sequencing providers and the establishment of vast reference databases necessary for precision medicine. This momentum is exemplified by major public health endeavors that are rapidly digitizing biological banks. According to the National Institutes of Health, February 2024, in the 'All of Us Research Program Data Release', the initiative made available a dataset containing 245,388 clinical-grade whole genome sequences to accelerate biomedical research. Such large-scale generation of genomic data is not limited to the public sector but is also a priority for pharmaceutical entities aiming to enhance drug discovery. According to Regeneron Pharmaceuticals, in 2024, the company announced that its genetics center had sequenced its two millionth exome, illustrating the massive volume of data now characterizing the global market.

Download Free Sample Report

Key Market Challenges

The complexity associated with managing and interpreting the massive datasets generated by sequencing technologies constitutes a primary impediment to the expansion of the Global Whole Genome & Exome Sequencing Market. As high-throughput sequencing technologies generate petabytes of raw data, healthcare institutions frequently encounter severe bottlenecks due to insufficient computational storage and a scarcity of bioinformatics expertise. This inability to efficiently process and analyze genomic information delays the translation of raw sequences into actionable clinical insights, thereby driving up operational costs and stalling research initiatives. Consequently, the market faces significant friction in scaling its services to meet the growing demand for precision medicine, as valuable genetic insights often remain inaccessible within siloed or poorly integrated systems.

Underscoring this operational hurdle, data governance remains a persistent issue across the life sciences sector. According to the Pistoia Alliance, in 2024, 54 percent of life science professionals identified unstructured data as a major challenge, while 48 percent reported that a lack of metadata standardization hinders their ability to access and utilize data effectively. These statistics highlight how the overwhelming volume and complexity of genomic data directly restrict the speed and efficiency of drug discovery and diagnostic development, limiting the overall growth potential of the sequencing market.

Key Market Trends

The transition from short-read to long-read sequencing technologies is reshaping the market, driven by the need to detect structural variants and characterize complex regions often missed by short-read platforms. Long-read modalities are increasingly essential for assembling complete reference genomes and resolving phased haplotypes, significantly improving diagnostic accuracy for rare disorders. This shift is substantiated by the commercial success of high-throughput long-read devices. According to Pacific Biosciences, February 2024, in the 'Fourth Quarter and Full Year 2023 Financial Results', the company reported shipping 173 Revio sequencing systems during the fiscal year, signaling a robust industrial move toward these advanced technologies.

Concurrently, the integration of Whole Exome Sequencing (WES) into clinical oncology is becoming routine for comprehensive tumor profiling. This trend allows oncologists to utilize exome-based biopsies to identify actionable mutations and monitor treatment resistance more effectively than targeted panels. WES provides a broad analysis of somatic alterations, which is critical for selecting appropriate targeted therapies and immunotherapies. According to Guardant Health, May 2024, in the 'First Quarter 2024 Financial Results', the company reported clinical test volumes of 46,900, a 20 percent increase year-over-year, illustrating the growing dependence on extensive genomic data for precision cancer care.

Segmental Insights

Based on recent industry analysis, the Instruments segment is currently the fastest-growing category within the Global Whole Genome & Exome Sequencing Market. This accelerated expansion is primarily driven by a widespread technology replacement cycle, necessitated by the commercial release of next-generation high-throughput platforms such as Illumina’s NovaSeq X and PacBio’s Revio. These newer systems offer significantly reduced sequencing costs per gigabase, compelling academic centers and clinical laboratories to upgrade their legacy infrastructure to ensure operational efficiency. Furthermore, the introduction of affordable benchtop sequencers is facilitating the decentralization of genomic testing, thereby fueling additional hardware procurement across diverse research settings.

Regional Insights

North America holds the leading position in the Whole Genome and Exome Sequencing market due to substantial investments in genomic research and the concentration of major biotechnology companies. The region benefits from government programs that prioritize precision medicine and population health studies. Additionally, the United States Food and Drug Administration provides a clear regulatory pathway that supports the commercialization and clinical use of sequencing-based tests. This favorable environment encourages the integration of genomic data into clinical workflows for cancer and rare disease treatment, ensuring the region remains the dominant market globally.

Recent Developments

• In October 2024, Illumina launched the MiSeq i100 and MiSeq i100 Plus systems, a new series of benchtop sequencers designed to enhance speed and simplicity for laboratories. These instruments incorporate the company's advanced XLEAP-SBS chemistry and are engineered to support a variety of applications, including small whole-genome sequencing and targeted next-generation sequencing panels. The Chief Technology Officer of Illumina highlighted that the systems offer push-button workflows and room-temperature reagent storage, which aims to provide greater flexibility and reduce the environmental impact of genomic research. This product launch represents a significant addition to the company's portfolio, targeting decentralized labs requiring rapid turnaround times.
• In July 2024, Labcorp expanded its collaboration with Ultima Genomics to advance the development of new clinical applications based on whole genome sequencing. Under this agreement, Labcorp intends to utilize Ultima’s UG 100 sequencing solution and ppmSeq technology to explore enhanced testing capabilities in oncology, specifically for the detection of molecular residual disease in patients with early-stage solid tumors. The Vice President of Medical Lead for Oncology at Labcorp stated that the partnership combines their extensive testing network with Ultima’s scalable, high-throughput architecture. This joint effort aims to improve the sensitivity and cost-effectiveness of genomic testing for complex clinical needs in the precision medicine market.
• In May 2024, Oxford Nanopore Technologies launched a new telomere-to-telomere (T2T) genome assembly product bundle during its annual London Calling conference. This commercial offering provides a streamlined, all-in-one workflow designed to enable the complete sequencing of human genomes from end to end without the need for supplementary technologies. The Chief Technology, Innovation, and Product Officer of Oxford Nanopore Technologies emphasized that this development makes the generation of gapless, high-quality genome assemblies more accessible to the broader scientific community. The release aligns with the company's strategic objective to deliver richer multiomic data and comprehensive genomic insights through its proprietary nanopore-based sensing platform.
• In March 2024, PacBio announced a strategic collaboration with the Estonia National Biobank to sequence 10,000 whole human genomes using the company's Revio long-read sequencing systems. This large-scale initiative, which will be executed by the Institute of Genomics at the University of Tartu, aims to utilize high-fidelity long-read data to advance the understanding of complex genetics underlying cardiovascular disease, cancer, and rare disorders. The project supports the biobank's personalized medicine goals by generating comprehensive genomic data for population-health analysis. The selection of this technology highlights a growing shift toward long-read sequencing for capturing complex genomic variants often missed by traditional short-read methods.

Key Market Players

• Illumina
• Thermo Fisher Scientific
• BGI Genomics
• Oxford Nanopore Technologies
• Pacific Biosciences
• Agilent Technologies
• QIAGEN
• Roche
• PerkinElmer
• Macrogen

Report Scope:

In this report, the Global Whole Genome & Exome Sequencing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Whole Genome & Exome Sequencing Market, By Product:

• Kits
• Instruments

• Whole Genome & Exome Sequencing Market, By Workflow:

• Whole Genome Sequencing (WGS) Whole Exome Sequencing (WES)

• Whole Genome & Exome Sequencing Market, By Application:

• Oncology
• Microbial
• Non-Invasive Prenatal Testing (NIPT)
• Others

• Whole Genome & Exome Sequencing Market, By End User:

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

• Whole Genome & Exome Sequencing Market, By Region:

• North America
• United States
• Canada
• Mexico
• Europe
• France
• United Kingdom
• Italy
• Germany
• Spain
• Asia Pacific
• China
• India
• Japan
• Australia
• South Korea
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE