Targeted Sequencing Market - Global Industry Size, Share, Trends, Competition, Opportunity, and Forecast, Segmented By Product Type (Kits/Panels and Assays, Instruments and Other), By Target Enrichment Method (Amplicon Sequencing, Hybridization Capture, and Others), By Target Capture Type (Targeted DNA Sequencing ,Targeted RNA Sequencing and others), By Application(Oncology, Infectious Diseases, Cardiovascular Diseases, Reproductive Health, Rare Diseases, Neurological Disorders, Hereditary Diseases, and Others), By End Users (Academic and Research Institution, Pharmaceutical and Biotech Companies, Diagnostic & Clinical Laboratories and Other), By Region, By Competition, 2020-2030F

Market Overview

The Global Targeted Sequencing Market, valued at USD 3.90 Billion in 2024, is projected to experience a CAGR of 11.10% to reach USD 7.33 Billion by 2030. The Global Targeted Sequencing Market centers on a next-generation sequencing technique that precisely targets and analyzes specific genomic regions, such as particular genes or exons, rather than sequencing the entire genome. This focused approach provides high-depth coverage and accuracy for selected areas, enabling efficient and cost-effective identification of genetic variants critical for various applications.

The market's growth is driven by several factors, including the increasing demand for in-depth genomic analysis to detect rare genetic variants and identify disease-associated mutations, alongside the inherent advantages of targeted sequencing such as lower cost and reduced data burden compared to whole genome sequencing. Expanding applications in precision medicine, particularly in oncology and the diagnosis of hereditary and infectious diseases, also significantly contribute to market expansion. According to the Personalized Medicine Coalition, a not-for-profit entity, the U. S. Food and Drug Administration approved 26 new personalized medicines in 2023, demonstrating a substantial increase from 12 approvals in 2022, reflecting a trend that directly influences the demand for targeted sequencing. However, a significant challenge impeding market expansion is the lack of standardized guidelines and consensus regarding the diverse range of next-generation sequencing platforms and techniques, which can complicate widespread clinical adoption and reimbursement processes.

Key Market Drivers

The increasing global burden of genetic disorders and cancer represents a primary driving force behind the expansion of the Global Targeted Sequencing Market. The critical need for precise diagnostic tools and methods for disease characterization fuels the demand for targeted sequencing, which offers highly accurate and in-depth analysis of specific genomic regions relevant to these conditions. This technology enables earlier detection, guides personalized treatment strategies, and facilitates monitoring for recurrence or treatment response in oncology and rare disease settings. According to the World Health Organization, in February 2024, global cancer estimates for 2022 revealed approximately 20 million new cancer cases and 9.7 million deaths, highlighting the pervasive nature of this disease and the continuous requirement for advanced diagnostic solutions. Furthermore, targeted sequencing is instrumental in identifying the underlying genetic causes of rare diseases, which collectively affect millions worldwide. The growing investment in genomics research further underscores this trend; for example, according to Genome Canada’s 2023-24 annual report, a total of $105.5 million was invested in genomics research during that fiscal year, demonstrating sustained support for genetic investigations that often utilize targeted sequencing approaches.

Complementing the rising disease prevalence are the continuous advancements in next-generation sequencing technologies, which significantly enhance the capabilities and accessibility of targeted sequencing. Innovations in sequencing platforms have led to notable improvements in throughput, accuracy, and cost-efficiency, making high-depth genomic analysis more practical for routine clinical and research applications. These technological developments include the introduction of new chemistries and instrumentation that accelerate the sequencing process while simultaneously reducing per-sample costs. For instance, according to Illumina Inc. , in October 2022, the NovaSeq X and NovaSeq X Plus platforms were launched, capable of generating more than 20,000 whole genomes per year and operating at 2.5 times the throughput of prior sequencers, thereby facilitating large-scale targeted sequencing projects. Such advancements enable researchers and clinicians to analyze a greater number of samples with higher resolution, supporting the identification of subtle genetic variations that are crucial for understanding disease mechanisms and developing targeted therapies.

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Key Market Challenges

A significant challenge impeding the growth of the Global Targeted Sequencing Market is the absence of standardized guidelines and a unified consensus regarding the multitude of next-generation sequencing platforms and techniques. This fragmented landscape directly complicates widespread clinical adoption and the crucial processes of securing reimbursement for these advanced diagnostic tests. The lack of uniform standards creates ambiguity in test validation, interpretation, and reporting across different laboratories and healthcare providers.

This absence of standardization contributes to inconsistent payer policies, as each insurer may establish varying evidentiary requirements for assessing clinical utility, leading to unpredictable coverage and payment decisions. For instance, according to the College of American Pathologists, a 2.5% reduction in payment for pathology services, which includes molecular diagnostics, is anticipated starting January 2025, reflecting ongoing pressures on reimbursement and the complexities in valuing these intricate tests. Such financial uncertainty directly deters broader integration of targeted sequencing into routine clinical practice, limiting patient access to these critical diagnostic tools and consequently hindering overall market expansion.

Key Market Trends

Artificial intelligence and machine learning integration is profoundly transforming genomic data interpretation within targeted sequencing. These advanced computational methods are essential for efficiently analyzing the vast and complex datasets generated, enabling the rapid identification of subtle genetic variants and their clinical implications. This capability significantly enhances diagnostic precision and facilitates the development of personalized therapeutic approaches. Reflecting this growing importance, according to Roche, in April 2025, the company committed $50 billion over five years to its US pharmaceutical and diagnostics operations, including the establishment of a new research and development center focused on artificial intelligence research. This strategic investment highlights the industry’s reliance on AI to convert genomic information into actionable clinical intelligence.

The expanding clinical utility of liquid biopsy for targeted analysis marks a pivotal shift, offering minimally invasive alternatives to conventional tissue biopsies. This methodology, leveraging circulating tumor DNA and other biomarkers from bodily fluids, provides dynamic insights into disease progression and tumor characteristics. While initially focused on established oncology, its application is increasingly diversifying into early disease detection and widespread screening. Demonstrating this broadening scope, Guardant Health received FDA approval for its Shield blood test in July 2024, designating it as a ctDNA-based screening tool for colorectal cancer in average-risk adults. This approval underscores liquid biopsy's growing role in preventative care and early disease management beyond its traditional applications.

Segmental Insights

The Targeted DNA Sequencing segment is demonstrating rapid expansion within the Global Targeted Sequencing Market, primarily driven by the inherent stability of DNA compared to RNA, which offers greater convenience in sample handling, storage, and analysis. This stability is crucial for consistently accurate results in clinical and research settings. Furthermore, advancements in Next-Generation Sequencing (NGS) technologies have significantly improved the speed and cost-effectiveness of DNA analysis, making it an indispensable tool for identifying genetic variations critical for personalized medicine and precision oncology. The increasing prevalence of chronic diseases, particularly cancer, further propels demand as targeted DNA sequencing enables precise identification of disease-associated mutations to guide drug development and tailored therapeutic strategies.

Regional Insights

North America holds a leading position in the global targeted sequencing market, primarily due to its advanced healthcare infrastructure and substantial investments in genomics and biotechnology. The region benefits significantly from robust government funding and supportive initiatives, particularly from institutions like the National Institutes of Health (NIH), which actively promote genomic research and its clinical integration. This strong foundation, coupled with the presence of prominent sequencing technology companies and well-resourced academic and clinical research facilities, fosters continuous innovation and the early adoption of advanced sequencing technologies. These factors collectively cement North America's dominance in advancing precision medicine and drug discovery.

Recent Developments

• In October 2025, Bio-Techne Corporation announced an expanded strategic collaboration with Oxford Nanopore Technologies. This enhanced agreement builds upon the prior successful launch of the AmplideX® Nanopore Carrier Plus Kit in March 2025 and is set to continue through 2032. The partnership will streamline the development and commercialization of a broader portfolio of targeted enrichment sequencing kits. These kits are intended for the screening and potential diagnosis of heritable genetic disorders, leveraging Oxford Nanopore's platform. This collaboration aims to accelerate innovation in diagnostic testing solutions, simplifying workflows and delivering richer insights for laboratories globally.

• In February 2025, Biofidelity, a company specializing in genomic solutions, announced details for the launch of its novel Enspyre® technology. This innovative target enrichment technology significantly enhances signal-to-noise ratios by removing up to 99% of background DNA before sequencing. Enspyre allows for highly sensitive variant identification with substantially reduced sequencing depth, making high-throughput next-generation sequencing applications more efficient on benchtop sequencers. This breakthrough is poised to transform various oncology applications, including minimum residual disease (MRD) testing, by lowering sequencing costs and accelerating result delivery for patients, thereby expanding the capabilities of targeted sequencing.

• In October 2024, Illumina, a prominent provider of DNA sequencing technologies, unveiled its MiSeq i100 Series of sequencing systems. These new benchtop instruments were designed to enhance next-generation sequencing (NGS) accessibility for laboratories by offering improved speed and ease of use. The MiSeq i100 and MiSeq i100 Plus Systems facilitate quicker run times, with some analyses completed within four hours, and support room-temperature storage for reagents. The systems were introduced as an affordable and comprehensive solution, particularly enabling efficient targeted NGS panels for applications such as infectious disease and oncology, making advanced genomic insights more attainable for a wider range of users.

• In April 2024, QIAGEN introduced new products to advance cancer research, specifically launching its QiAcuity dPCR PanCancer Kits and the QiaSeq Targeted RNA-seq Panel for T-Cell Receptors. The PanCancer Kits were designed for use with the QiAcuity digital PCR system to enable sensitive, simultaneous detection of multiple EGFR and BRAF mutations, supporting pre-screening for NGS analysis and cancer cell monitoring. The QiaSeq Targeted RNA-seq Panel utilized unique molecular indices to facilitate ultrasensitive and accurate characterization of the immune repertoire, aiding research into the role of T-cell receptors as biomarkers in cancer and understanding tumor behavior.

Key Market Players

• MGI Tech Co., Ltd
• GENEWIZ Inc
• Agilent Technologies, Inc.
• Daicel Arbor Biosciences
• Danaher Corporation
• Illumina, Inc.
• LGC Biosearch Technologies
• Pacific Biosciences of California Inc
• CD Genomics
• F. Hoffmann-La Roche Ltd

Report Scope:

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

• Targeted Sequencing Market, By Product Type:

o   Kits/Panels and Assays

o   Instruments

o   Other

• Targeted Sequencing Market, By Target Capture Type:

o   Targeted DNA Sequencing

o   Targeted RNA Sequencing

o   Others

• Targeted Sequencing Market, By Target Enrichment Method:

o   Amplicon Sequencing

o   Hybridization Capture

o   Others

• Targeted Sequencing Market, By End Users:

o   Academic and Research Institution

o   Pharmaceutical and Biotech Companies

o   Diagnostic & Clinical Laboratories

o   Other

• Targeted Sequencing Market, By Application:

o   Oncology

o   Infectious Diseases

o   Cardiovascular Diseases

o   Reproductive Health

o   Rare Diseases

o   Neurological Disorders

o   Hereditary Diseases

o   Others

• Targeted Sequencing Market, By Region:

o   North America

§  United States

§  Canada

§  Mexico

o   Europe

§  France

§  United Kingdom

§  Italy

§  Germany

§  Spain

o   Asia Pacific

§  China

§  India

§  Japan

§  Australia

§  South Korea

o   South America

§  Brazil

§  Argentina

§  Colombia

o   Middle East & Africa

§  South Africa

§  Saudi Arabia

§  UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies presents in the Global Targeted Sequencing Market.

Available Customizations:

Global Targeted Sequencing Market report with the given market data, TechSci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

Company Information

• Detailed analysis and profiling of additional market players (up to five).

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