Targeted Sequencing And Resequencing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Technology (Sequencing, Re-sequencing( Electrophoresis-based resequencing, NGS, Array-based resequencing)), By Type (DNA-based targeted sequencing, RNA-based targeted sequencing), By Application (Clinical application, Plant and animal sciences, Drug development, Others), By End use (Hospitals & clinics, Academic research, Others), By Region and Competition, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 6.26 Billion
CAGR (2026-2031)	6.01%
Fastest Growing Segment	Sequencing
Largest Market	North America
Market Size (2031)	USD 8.88 Billion

Market Overview

The Global Targeted Sequencing And Resequencing Market will grow from USD 6.26 Billion in 2025 to USD 8.88 Billion by 2031 at a 6.01% CAGR. Targeted sequencing and resequencing involve isolating and analyzing specific genomic regions to identify genetic variants with high depth and accuracy, offering a cost-effective alternative to whole-genome approaches. The market is primarily driven by the rising prevalence of cancer and genetic disorders, which necessitates precise diagnostic tools for selecting appropriate therapeutic interventions. This demand is further supported by the accelerating pace of drug development in precision oncology, where genomic data is critical for patient stratification. According to the 'Personalized Medicine Coalition', in '2024', 'the U.S. Food and Drug Administration approved 26 new personalized medicines in 2023, signaling a robust demand for the targeted diagnostics required to guide these therapies'.

Despite these favorable growth factors, the market faces a significant challenge regarding bioinformatics and data interpretation. The sheer volume of complex data generated by high-throughput sequencing requires advanced computational infrastructure and specialized expertise to translate raw genetic information into actionable clinical insights, creating a bottleneck that hinders broader adoption in resource-limited settings.

Key Market Drivers

The accelerated adoption of precision medicine and personalized therapies is fundamentally reshaping the Global Targeted Sequencing And Resequencing Market, particularly within the oncology sector. As clinicians increasingly prioritize genomic profiling to tailor treatments, the demand for targeted panels that can identify specific mutations—such as EGFR or BRCA—has surged to unprecedented levels. This shift is necessitated by the growing global burden of disease, which requires scalable and precise diagnostic solutions to manage patient care effectively. For instance, according to the American Cancer Society, in 2024, the United States is projected to exceed 2 million new cancer cases for the first time, underscoring the critical need for advanced genomic tools. Consequently, diagnostic providers are witnessing a rapid uptake of their targeted oncology assays to meet this expanding clinical need. According to Natera, Inc., August 2024, in the 'Second Quarter 2024 Financial Results', the company performed approximately 125,400 oncology tests in the second quarter of 2024, representing a significant 50.2% increase compared to the same period in the previous year.

Concurrently, the emergence of liquid biopsy applications for non-invasive monitoring is expanding the market's accessibility and utility. Targeted sequencing is the technological backbone of these assays, enabling the highly sensitive detection of circulating tumor DNA (ctDNA) for minimal residual disease (MRD) assessment and recurrence monitoring without the need for invasive tissue sampling. This application has gained substantial traction not only in clinical settings but also in pharmaceutical research, where it is increasingly used to streamline drug development and stratify patients for clinical trials. Reflecting this trend, according to Guardant Health, August 2024, in the 'Second Quarter 2024 Financial Results', the company reported a 56% year-over-year increase in tests reported to biopharmaceutical customers, highlighting the growing reliance on liquid biopsy-based targeted sequencing for supporting the next generation of therapeutic discoveries.

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Key Market Challenges

The significant challenge hampering the growth of the "Global Targeted Sequencing And Resequencing Market" is the complexity associated with bioinformatics and data interpretation. While targeted sequencing reduces the sheer volume of data compared to whole-genome methods, it generates highly dense and intricate datasets that require substantial computational infrastructure to process. The primary bottleneck lies in the downstream analysis, where laboratories must accurately distinguish pathogenic variants from benign noise. This process demands specialized bioinformatic algorithms and highly skilled personnel to validate findings, creating a resource gap that slows diagnostic turnaround times and increases the operational cost of testing.

Furthermore, the lack of standardized data frameworks exacerbates these difficulties, leading to fragmented information systems that cannot easily communicate with electronic health records. This fragmentation restricts the ability of healthcare providers to translate raw genomic data into immediate clinical decisions, effectively limiting the technology's scalability in non-specialized settings. According to the 'Pistoia Alliance', in '2025', 'data silos remain the primary obstacle in laboratory environments, with 57% of industry respondents identifying them as the top challenge to effective data utilization and cross-functional collaboration'. This technical barrier directly constrains market expansion by preventing the seamless integration of sequencing workflows into routine medical practice.

Key Market Trends

The Integration of Artificial Intelligence for Enhanced Variant Interpretation is rapidly becoming a primary differentiator in the market, directly addressing the critical bottleneck of analyzing complex genomic datasets. As high-throughput sequencing generates vast amounts of raw data, laboratories are aggressively adopting AI-driven bioinformatics pipelines to automate variant classification and predict pathogenicity with greater speed than manual curation. This trend reflects a structural value shift where the competitive advantage is migrating from the physical sequencing workflow to the downstream data analysis and clinical interpretation layers. Highlighting this rapid adoption, according to Tempus AI, November 2024, in the 'Third Quarter 2024 Financial Results', the company's data and services revenue grew 64.4% year-over-year, significantly outpacing the 20.3% growth in its genomics revenue, underscoring the market's increasing reliance on AI-enabled insight generation over pure sequencing volume.

The Expansion of Targeted Sequencing into Non-Oncology Disease Areas is simultaneously diversifying revenue streams beyond the traditionally dominant cancer diagnostics sector. Diagnostic developers are increasingly adapting next-generation sequencing panels to address hereditary conditions in cardiology, immunology, and reproductive health, where precise genetic information is essential for risk stratification and management. This broadening of clinical utility allows providers to mitigate the saturation risks associated with oncology markets while capitalizing on the underpenetrated demand for genetic testing in other medical specialties. Validating this diversification strategy, according to Myriad Genetics, November 2024, in the 'Third Quarter 2024 Financial Results', the company reported that its prenatal testing revenue grew 10% year-over-year, driven by robust volume increases and improved reimbursement strategies for its carrier screening and non-invasive prenatal offerings.

Segmental Insights

The Sequencing segment represents the fastest growing area in the Global Targeted Sequencing And Resequencing Market, driven by the escalating demand for high-throughput genomic analysis in clinical research. This expansion is largely attributed to the shift toward precision medicine, where targeted panels are essential for identifying specific genetic mutations in oncology. The U.S. Food and Drug Administration (FDA) has bolstered this growth by establishing clearer regulatory pathways for Next-Generation Sequencing diagnostics. These developments compel pharmaceutical firms to adopt sequencing technologies for biomarker discovery, ensuring accurate patient stratification and effective drug development.

Regional Insights

North America holds a dominant position in the Global Targeted Sequencing and Resequencing Market, driven by a robust healthcare infrastructure and substantial government investment in genomic research. The region benefits from extensive funding initiatives, such as those provided by the National Institutes of Health (NIH), which accelerate the development of precision medicine applications. Additionally, the U.S. Food and Drug Administration (FDA) plays a pivotal role by establishing clear regulatory frameworks for next-generation sequencing diagnostics, thereby fostering commercial innovation. The presence of major biotechnology corporations further consolidates this leadership through continuous technological advancements and widespread clinical adoption.

Recent Developments

• In July 2025, Qiagen introduced the QIAseq xHYB Long Read Panels, a new suite of target enrichment solutions optimized for complex genomic regions. These panels were designed for use with native long-read sequencing platforms, specifically those from PacBio, to address challenges in areas such as HLA typing, repeat expansion analysis, and structural variant detection. The launch aimed to leverage hybrid-capture chemistry to deliver high target completeness and uniformity. The Senior Vice President and Head of Product Portfolio at Qiagen described the release as a major milestone in the company's strategy to provide differentiated solutions for both short- and long-read next-generation sequencing.
• In August 2024, Illumina expanded its targeted sequencing oncology offerings for the NovaSeq X Series by launching the verified high-throughput version of TruSight Oncology 500. This development enabled laboratories to perform comprehensive genomic profiling on the company's most powerful sequencing system, offering impactful economic improvements and faster turnaround times compared to previous platforms. The assay assesses hundreds of genes across all variant classes and immuno-oncology biomarkers from a single sample. The Chief Commercial Officer of Illumina noted that this expansion would help scale distributed genomic profiling and drive precision oncology forward by making advanced testing more accessible to clinical researchers.
• In May 2024, Oxford Nanopore Technologies and Twist Bioscience collaborated to launch a new Pharmacogenomics Beta Program aimed at advancing personalized medicine. This initiative combined Twist Bioscience’s next-generation sequencing target enrichment technology with Oxford Nanopore’s sequencing platform to deliver a comprehensive long-read pharmacogenomics solution. The newly unveiled workflow was designed to provide unambiguous genetic results in a single assay, successfully achieving full resolution of challenging genes such as CYP2D6. By integrating Twist’s hybrid capture panels with MinION and PromethION Flow Cells, the companies aimed to offer a flexible and efficient toolset for genetic analysis in clinical research settings.
• In April 2024, Agilent Technologies announced significant advancements in its targeted sequencing portfolio at the American Association for Cancer Research Annual Meeting. The company introduced new Agilent SureSelect CD CiberMed Tissue and Heme panels, developed in partnership with CiberMed. These panels integrate the SureSelect workflow with digital cytometry software to enhance cellular profiling from bulk RNA-sequencing data. Additionally, Agilent launched SureSelect Cancer Custom panels, which allow researchers to incorporate emerging biomarkers such as tumor mutational burden and microsatellite instability into custom genomic profiling assays. These innovations were designed to streamline workflows and improve sensitivity in cancer research and diagnostics.

Key Market Players

• Agilent Technologies Inc.
• Illumina, Inc.
• F. Hoffmann-La Roche Ltd
• Thermo Fisher Scientific, Inc.
• DNASTAR Inc.
• Bio-Rad Laboratories, Inc.
• Integrated DNA Technologies, Inc.
• Perkin Elmer, Inc.
• RainDance Technologies, Inc.
• Genomatix GmbH

By Technology	By Type	By Application	By End use	By Region
Sequencing Re-sequencing( Electrophoresis-based resequencing, NGS, Array-based resequencing)	DNA-based targeted sequencing RNA-based targeted sequencing	Clinical application Plant and animal sciences Drug development Others	Hospitals & clinics Academic research Others	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

In this report, the Global Targeted Sequencing And Resequencing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Targeted Sequencing And Resequencing Market, By Technology:

• Sequencing
• Re-sequencing( Electrophoresis-based resequencing, NGS, Array-based resequencing)

• Targeted Sequencing And Resequencing Market, By Type:

• DNA-based targeted sequencing
• RNA-based targeted sequencing

• Targeted Sequencing And Resequencing Market, By Application:

• Clinical application
• Plant and animal sciences
• Drug development
• Others

• Targeted Sequencing And Resequencing Market, By End use:

• Hospitals & clinics
• Academic research
• Others

• Targeted Sequencing And Resequencing 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