“According to a new report published by Introspective Market Research, Targeted Sequencing and Resequencing Market by Technology, Application, and End-User, The Global Targeted Sequencing and Resequencing Market Size Was Valued at USD 6.22 Billion in 2023 and is Projected to Reach USD 38.94 Billion by 2032, Growing at a CAGR of 22.59%.”

Targeted sequencing and resequencing is a sophisticated and highly efficient method of genomic analysis that focuses solely on sequencing specific regions of interest within a genome, rather than the entire genome. This technique is often used in combination with Next-Generation Sequencing (NGS) platforms. By focusing on particular genes or regions—such as those associated with diseases like cancer or hereditary disorders—it significantly reduces the data volume, making the process more cost-effective, faster, and simplifying data analysis compared to traditional methods like Whole Genome Sequencing (WGS).

The primary advantage of targeted sequencing lies in its ability to achieve very high coverage depth on a select panel of genes, which is crucial for reliably detecting rare somatic mutations or low-frequency variants in complex samples, such as tumor biopsies or circulating tumor DNA (ctDNA). Its main uses span major industries, including clinical diagnostics, drug development, academic and research institutions, and precision medicine, where it is instrumental in diagnosing genetic disorders, identifying biomarkers, and tailoring personalized treatment plans. The precision and speed it offers have positioned it as an indispensable tool in modern genomic science.

Market Segmentation:

The Targeted Sequencing and Resequencing Market is segmented into Technology, Application, and End-User. By Technology, the market is categorized into (Amplicon Sequencing, Hybridization-based Targeted Sequencing, Others). By Application, the market is categorized into (Oncology, Reproductive Health, Infectious Diseases, Rare Genetic Disorders, Others). By End-User, the market is categorized into (Academic and Research Institutes, Pharmaceutical and Biotechnology Companies, Hospitals and Clinics, Diagnostic Laboratories, Others).

Growth Driver:

The primary catalyst driving the Targeted Sequencing and Resequencing Market is the escalating global adoption of precision medicine initiatives. Precision medicine seeks to tailor medical treatments to individual characteristics, and targeted sequencing is foundational to this approach. It enables the comprehensive identification of disease-associated genetic variations—such as in oncology—which are essential for patient stratification, guiding therapeutic decisions, and companion diagnostics. The ability to quickly and accurately profile specific genes for actionable mutations allows healthcare providers to select the most effective treatment from the outset, moving away from a 'one-size-fits-all' model. This growing clinical integration, supported by favorable regulatory pathways and reimbursement policies for NGS-based diagnostics, is fueling significant market expansion.

Market Opportunity:

A key market opportunity lies in the integration of artificial intelligence (AI) and machine learning (ML) with genomic data analysis. Targeted sequencing generates vast and complex datasets; currently, the analysis and interpretation of this data represent a significant bottleneck due to the shortage of specialized bioinformatics talent. AI and ML tools can automate, accelerate, and enhance the accuracy of variant calling, annotation, and clinical reporting. Companies that develop sophisticated, user-friendly, cloud-based AI/ML platforms to streamline the targeted sequencing workflow—from raw data to actionable clinical insights—will find substantial opportunities. This advancement will increase the technology's throughput, lower the barrier to entry for smaller labs, and solidify its utility in routine clinical diagnostics.

Detailed Segmentation:

Title: Targeted Sequencing and Resequencing Market, Segmentation

The Targeted Sequencing and Resequencing Market is segmented on the basis of Technology, Application, and End-User.

Application

The Application segment is further classified into Oncology, Reproductive Health, Infectious Diseases, Rare Genetic Disorders, and Others. Among these, the Oncology sub-segment accounted for the highest market share in 2023. This dominance is attributable to the widespread and indispensable use of targeted sequencing in cancer care. It allows for the precise identification of somatic mutations (driver mutations), which is critical for cancer diagnosis, prognosis, and selecting targeted therapies and immunotherapies. Furthermore, targeted sequencing panels are employed for minimal residual disease (MRD) monitoring and identifying resistance mechanisms, cementing its vital role across the entire cancer patient journey, from initial diagnosis to long-term follow-up.

End-User

 The End-User segment is further classified into Academic and Research Institutes, Pharmaceutical and Biotechnology Companies, Hospitals and Clinics, Diagnostic Laboratories, and Others. Among these, the Academic and Research Institutes sub-segment accounted for the highest market share in 2023. This high share is driven by the extensive volume of genome-related research projects conducted globally in university and institutional settings. Targeted sequencing provides a cost-effective and highly focused tool for these researchers to study disease mechanisms, population genetics, and to validate novel gene targets. Substantial government and private funding directed toward basic genomic research and translational studies further ensures that academic centers remain the largest consumers of targeted sequencing kits, instruments, and services.

Some of The Leading/Active Market Players Are-

·         Illumina, Inc. (United States)

·         Thermo Fisher Scientific, Inc. (United States)

·         F. Hoffmann-La Roche AG (Switzerland)  

·         Agilent Technologies, Inc. (United States)  

·         QIAGEN N.V. (Netherlands)  

·         BGI Genomics Co., Ltd. (China)  

·         Bio-Rad Laboratories, Inc. (United States)  

·         PerkinElmer, Inc. (United States)  

·         Oxford Nanopore Technologies Ltd (United Kingdom)  

·         Pacific Biosciences of California, Inc. (United States)  

·         Integrated DNA Technologies, Inc. (United States)

·         PierianDx (United States)

·         Genomatix GmbH (Germany)

·         Macrogen Inc. (South Korea)

·         LGC Biosearch Technologies (United Kingdom)

and other active players.

Key Industry Developments

In January 2024, Illumina launched a new high-throughput sequencing system aimed at reducing per-sample costs and increasing accessibility for both clinical research and diagnostics. This new platform is designed to make large-scale targeted sequencing and genomic screening more economically viable for a broader range of clinical laboratories and hospital systems worldwide. The increased cost-efficiency is expected to rapidly accelerate the adoption of NGS-based tests in routine clinical workflows, especially for oncology and genetic disease panels, broadening the market’s reach.

In March 2024, QIAGEN announced a partnership with Helix to advance companion diagnostics specifically for hereditary diseases using its QIAseq NGS technology. This strategic collaboration aims to integrate QIAGEN's advanced sequencing reagent technology with Helix's expertise in large-scale population genomics. The goal is to develop and commercialize highly accurate and precise diagnostic tools, which will enhance the utility of targeted sequencing in identifying hereditary disease risk and guiding personalized therapeutic intervention for patients.

Key Findings of the Study

·         Dominant segments: The Oncology application segment and the Academic and Research Institutes end-user segment held the largest market shares in 2023.

·         Leading regions: North America dominated the global market in terms of revenue, primarily due to high R&D investments and strong presence of key market players.

·         Key growth drivers: The market is fundamentally driven by the increasing demand and adoption of precision medicine and continuous technological advancements in Next-Generation Sequencing (NGS) platforms.

·         Market trends: A notable trend is the significant market opportunity presented by the integration of Artificial Intelligence (AI) and Machine Learning (ML) for streamlined and enhanced genomic data analysis.

About Us

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