Targeted DNA RNA Sequencing Market Size | Top Companies
The global targeted DNA RNA sequencing market size was valued at USD 10.85 billion in 2023 and is anticipated to reach around USD 64.43 billion by 2033, growing at a CAGR of 19.5% from 2024 to 2033.
The targeted DNA/RNA sequencing market is transforming modern genomics, offering powerful, focused alternatives to whole-genome sequencing. This technology enables researchers, clinicians, and pharmaceutical developers to concentrate on specific genes or genomic regions of interest—thereby enhancing efficiency, reducing costs, and accelerating clinical insights. The global market for targeted DNA/RNA sequencing has experienced exponential growth in recent years, underpinned by rising demand for precision medicine, increasing applications in oncology, and advancements in next-generation sequencing (NGS) platforms.
Unlike whole-genome or transcriptome sequencing, targeted sequencing allows for deeper coverage of selected regions, improving the sensitivity for detecting rare variants and mutations. This makes it highly valuable for applications such as cancer mutation profiling, rare disease detection, pharmacogenomics, and transcriptome analysis in developmental biology. The widespread adoption of NGS technologies by academic research centers, clinical laboratories, and biopharmaceutical companies is driving this segment's expansion across both developed and emerging economies.
In clinical oncology, targeted sequencing panels enable personalized therapy decisions by identifying actionable mutations. Inherited disease screening and carrier testing also benefit from the accuracy and resolution of gene-specific analysis. RNA-targeted sequencing, though a relatively newer entrant, is gaining traction for its role in understanding gene expression patterns, splicing events, and immune response pathways.
With the increasing convergence of bioinformatics, automation, and cloud computing, the market is witnessing rapid innovation in data analysis tools and workflow integration. Governments and private institutions are investing heavily in genomics research programs, fostering market expansion. However, challenges such as data complexity, regulatory hurdles, and the need for highly skilled personnel remain limiting factors.
As technology matures, and as global health priorities shift toward early diagnosis, personalized treatment, and population genomics, the targeted DNA/RNA sequencing market is positioned for long-term, high-value growth.
Shift Toward Multi-Gene Panels and Custom Assays: Researchers and clinicians increasingly prefer customizable gene panels over single-gene tests to capture broader genetic insights.
Adoption of RNA Sequencing for Immune Profiling: RNA-based panels are being deployed for immunotherapy monitoring, transcriptome-wide analysis, and infectious disease surveillance.
Increased Use in Companion Diagnostics: Targeted sequencing is being embedded in pharmaceutical trials and post-market treatment monitoring for companion diagnostics (CDx).
Integration of AI in Genomic Data Interpretation: Artificial intelligence and machine learning tools are improving variant calling, annotation, and prediction of disease phenotypes.
Miniaturization and Automation of Sample Preparation: Workflow innovations are reducing hands-on time, increasing throughput, and enabling point-of-care sequencing possibilities.
Declining Sequencing Costs: The cost-per-megabase of NGS has dropped dramatically, making high-throughput targeted sequencing more accessible to mid-sized laboratories.
Cloud-Based Bioinformatics Pipelines: Cloud solutions are becoming standard for data management, storage, and real-time collaborative analysis.
Public Genomic Initiatives: Government-funded population genomics projects are incorporating targeted sequencing to build national biobanks and screen for hereditary diseases.
| Report Attribute | Details |
| Market Size in 2024 | USD 12.97 Billion |
| Market Size by 2033 | USD 64.43 Billion |
| Growth Rate From 2024 to 2033 | CAGR of 19.5% |
| Base Year | 2023 |
| Forecast Period | 2024 to 2033 |
| Segments Covered | Product, workflow, application, type, end use, region |
| Market Analysis (Terms Used) | Value (US$ Million/Billion) or (Volume/Units) |
| Report Coverage | Revenue forecast, company ranking, competitive landscape, growth factors, and trends |
| Key Companies Profiled | Illumina; F. Hoffman-La Roche Ltd.; QIAGEN; Thermo Fisher Scientific, Inc.; Bio-Rad Laboratories, Inc.; Oxford Nanopore Technologies; PierianDx; Genomatix GmbH; DNASTAR, Inc.; Perkin Elmer, Inc. |
Rising Demand for Precision Oncology and Personalized Medicine
A primary driver for the targeted DNA/RNA sequencing market is the growing global emphasis on precision oncology and personalized healthcare. As clinicians seek to understand the molecular basis of diseases at an individual level, targeted sequencing is emerging as the gold standard for identifying relevant genetic mutations, fusions, and expression changes that influence diagnosis and therapy choices. In cancers such as breast, colorectal, and lung, targeted gene panels help oncologists identify actionable mutations like BRCA1/2, EGFR, ALK, and KRAS—enabling more precise treatment selection.
In the UK’s National Health Service (NHS) and the U.S. FDA’s ongoing approvals of biomarker-based therapies, targeted sequencing plays a central role. The scalability, speed, and reliability of targeted NGS platforms offer clinicians a cost-effective solution to deliver data-driven care. This trend is further reinforced by payers increasingly recognizing the cost-saving potential of genetic stratification in therapy planning.
Data Interpretation Complexity and Shortage of Skilled Professionals
Despite its promise, targeted DNA/RNA sequencing faces a significant barrier in the form of data interpretation challenges and limited availability of trained professionals. Sequencing platforms generate vast amounts of data, requiring sophisticated computational tools, pipelines, and experienced bioinformaticians for analysis, interpretation, and clinical reporting. Variants of uncertain significance (VUS), false positives, and issues related to alignment and annotation further complicate downstream workflows.
Many clinical and diagnostic labs, especially in developing markets, lack the infrastructure or expertise to process and act upon high-dimensional genomic data. Errors in variant classification or misinterpretation of gene fusions can lead to incorrect clinical decisions. While AI tools are emerging to address these gaps, there remains a strong dependency on human oversight, creating a bottleneck in the adoption and scale-up of targeted sequencing, especially in low-resource settings.
Expanding Use of RNA-Based Targeted Sequencing in Immuno-Oncology and Transcriptomics
A key opportunity lies in the growing utility of RNA-targeted sequencing, particularly in the areas of immuno-oncology, transcriptomics, and infection monitoring. RNA sequencing enables detailed insights into gene expression profiles, immune system responses, and post-transcriptional modifications. This has made it especially valuable in the development of cancer immunotherapies and biomarker discovery.
As research expands into neoantigen profiling and immune checkpoint pathways, RNA-targeted sequencing offers unparalleled advantages in analyzing tumor microenvironments and predicting response to immunotherapies. In infectious disease genomics, RNA-based tests have been pivotal in SARS-CoV-2 surveillance and monitoring of vaccine-induced immunity. The ability to detect alternatively spliced transcripts, fusion genes, and expression-level variations opens new frontiers for disease diagnostics and therapeutic development, driving investment from both academic and commercial stakeholders.
NGS-based targeted sequencing dominated the market, owing to its unmatched throughput, accuracy, and flexibility in panel design. NGS platforms like Illumina’s NextSeq and Thermo Fisher’s Ion Torrent are widely adopted in clinical, academic, and pharmaceutical environments. Applications span from rare variant detection and exome sequencing to deep transcriptome profiling. Amplicon and enrichment sequencing methods are particularly popular for scalable cancer mutation panels, allowing multiplexed analysis of hundreds of genes in a single run. Exome sequencing continues to be a top choice for diagnosing rare genetic disorders and developmental delays.
Amplicon sequencing is currently the fastest-growing method, due to its simplicity, cost-effectiveness, and high sensitivity. Particularly in oncology and inherited disease testing, amplicon-based methods are preferred for hotspot mutation analysis, even from low-input or degraded samples like FFPE tissues. With innovations in multiplex PCR and automation, companies are launching targeted panels that can be customized for disease-specific applications, giving amplicon sequencing a strong edge in diagnostic workflows.
Sequencing was the dominating workflow segment, as it forms the core of any targeted analysis. It encompasses sample loading, amplification, and the actual base-pair readout process. Leading platforms are focusing on improving sequencing run times, error rates, and instrument flexibility. High-throughput systems are being deployed in biobanks, academic centers, and pharmaceutical companies to support population-scale studies and drug target validation.
Data analysis is emerging as the fastest-growing segment, spurred by increasing data volumes and the need for robust interpretation. Cloud-based tools, user-friendly dashboards, and automated variant annotation platforms are making data interpretation accessible to non-specialists. Startups are also entering the market with AI-driven platforms that reduce turnaround time from days to hours, providing clear clinical decision support.
Drug discovery dominated the market and accounted for a share of 42.75% in 2023. Accounting for the majority of targeted sequencing use across academic, institutional, and government labs. Targeted sequencing aids in understanding disease pathogenesis, genetic variation, and biomarker validation. Institutions such as the Broad Institute, NIH, and Cancer Research UK are heavily invested in using targeted panels for disease mechanism studies and therapeutic development.
Plant and animal sciences are expected to register a CAGR of 19.9% during the forecast period. This is due to the agriculture sector which makes it possible to determine genes associated with the desired characteristics in plants and animals. Additionally, in animal breeding, targeted sequencing assists in selecting animals with superior traits leading to improved livestock quality and productivity. Veterinary medicine is widely applied in targeted sequencing to identify diseases that affect animals and formulate individual treatment plans.
The DNA based targeted sequencing segment dominated the market in 2023. Driven by its broad applications in mutation detection, hereditary disease screening, and population studies. With well-established protocols and a wide range of commercially available panels, DNA-based sequencing is the default choice for laboratories entering the field of molecular diagnostics.
RNA-based targeted sequencing is growing rapidly, particularly in the context of gene expression profiling, transcript variant detection, and immune response monitoring. The rise of single-cell RNA sequencing and interest in mRNA therapeutics post-COVID-19 has also contributed to this segment's growth.
Academic research institutions are the leading end-users, as they conduct exploratory studies in genomics, molecular biology, and evolutionary genetics. These institutions often serve as innovation hubs where novel panels and sequencing methodologies are tested, validated, and standardized.
Hospitals and clinics are the fastest-growing end-user group, particularly in the context of personalized medicine. Clinical diagnostic labs now routinely use targeted sequencing for oncology testing, hereditary cancer screening, and rare disease diagnosis. The integration of sequencing in clinical workflows has been aided by automation, regulatory clearances, and electronic health record (EHR) compatibility.
North America targeted the DNA RNA sequencing market and accounted for largest revenue share of 42.11% in 2023 Driven by its well-established healthcare infrastructure, robust R&D ecosystem, and high adoption of next-generation sequencing (NGS) technologies. The region, led predominantly by the United States, is home to many of the world's leading genomics companies, academic institutions, and pharmaceutical giants that actively integrate targeted sequencing into diagnostics, therapeutics, and biomedical research. Institutions like the National Institutes of Health (NIH), Broad Institute, and Memorial Sloan Kettering Cancer Center routinely employ targeted panels for oncology, inherited disease screening, and immunogenomics.
Moreover, North America benefits from supportive regulatory frameworks (e.g., FDA’s approval process for NGS-based diagnostic kits), high insurance penetration, and national initiatives such as the All of Us Research Program and the Cancer Moonshot, which are accelerating the integration of genomics into public health. The presence of key players like Illumina, Thermo Fisher Scientific, and Agilent Technologies ensures ongoing innovation, investment, and accessibility. Clinical adoption is also surging in hospitals and cancer centers across the region, especially for companion diagnostics, precision oncology, and prenatal screening. High per capita healthcare expenditure and early technology adoption give North America a significant and sustained lead in this market.
Asia Pacific is emerging as the fastest-growing region in the targeted DNA/RNA sequencing market, owing to rising investments in genomic research, increasing healthcare access, and growing prevalence of chronic and genetic diseases. Countries like China, India, Japan, and South Korea are actively building capacity in molecular diagnostics, personalized medicine, and biopharmaceutical research. National programs such as China’s Precision Medicine Initiative and Japan’s Genome Medicine Implementation Project have created fertile ground for the expansion of targeted sequencing platforms across academic, clinical, and industrial settings.
In India, the rapid development of genomics startups and government initiatives like the GenomeIndia project are helping democratize access to genetic testing. Meanwhile, China's vast patient population, advanced infrastructure in tier-1 hospitals, and supportive government funding make it an epicenter for oncology and rare disease sequencing research. Additionally, the expansion of contract research organizations (CROs) and pharmaceutical outsourcing is increasing the deployment of targeted sequencing in drug discovery. The falling costs of NGS technology and growing collaborations between Asian biotech firms and global sequencing giants further contribute to the region’s exponential market trajectory. As clinical genomics adoption rises and bioinformatics capabilities strengthen, Asia Pacific is set to be the primary engine of market expansion in the coming decade.
The following are the leading companies in the targeted DNA RNA sequencing market. These companies collectively hold the largest market share and dictate industry trends.
March 2024: Illumina launched a new targeted RNA sequencing kit optimized for immuno-oncology applications, enabling detection of fusion genes and expression profiling from FFPE samples.
February 2023: Thermo Fisher Scientific announced the expansion of its Oncomine Precision Assay to include additional genes relevant to NSCLC and colorectal cancer, enhancing companion diagnostic applications.
January 2023: Agilent Technologies partnered with Belgian biotech company Biogazelle to co-develop RNA sequencing panels focused on immune transcriptomics and viral response monitoring.
December 2023: Roche announced the integration of its NAVIFY bioinformatics platform with Google Cloud to accelerate targeted sequencing data analysis for clinical labs.
This report forecasts revenue growth at country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2021 to 2033. For this study, Nova one advisor, Inc. has segmented the Targeted DNA RNA Sequencing market.
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