Targeted DNA-RNA Sequencing Market By Technology (Hybridization-Based, Amplicon-Based); By Application (Oncology, Inherited Diseases, Neurological Disorders, Infectious Diseases, Pharmacogenomics, Others); By End User (Hospitals & Clinical Labs, Academic Institutions, Biopharma, CROs, Public Health Agencies); By Geography, Segment Revenue Estimation, Forecast, 2024–2030

1. Introduction and Strategic Context

The Global Targeted DNA / RNA Sequencing Market will witness a robust CAGR of 14.7% , valued at $4.1 billion in 2024 , and is expected to appreciate significantly, reaching $9.8 billion by 2030 , confirms Strategic Market Research. This expanding market represents a critical intersection of genomics, oncology diagnostics, and personalized medicine—poised to redefine the molecular diagnostics ecosystem over the next decade.

Targeted sequencing , unlike whole-genome or whole-transcriptome approaches, focuses on analyzing specific genomic regions or RNA transcripts of interest. This strategy enables greater cost-efficiency, deeper coverage, faster turnaround, and clinically relevant interpretation, making it particularly indispensable for oncology, inherited disease screening, pathogen detection , and biomarker discovery .

From a strategic perspective, 2024 marks a tipping point. With the confluence of mature NGS (next-generation sequencing) platforms , declining sequencing costs, and stronger reimbursement backing for genetic diagnostics in the U.S. and EU, targeted sequencing is accelerating as a frontline tool in clinical diagnostics . Emerging economies are also investing in genomics infrastructure to align with precision medicine imperatives.

The regulatory landscape is maturing: agencies like the U.S. FDA and EMA are actively refining approval pathways for NGS-based diagnostic panels, making it easier for companies to bring companion diagnostics and liquid biopsy panels to market. Meanwhile, international organizations are pushing for standardization in genomic data formats and reporting—addressing longstanding issues of interoperability.

On the technological front, hybridization-based capture and amplicon-based enrichment are evolving rapidly. Increasing integration of AI in genomic data interpretation , and the use of CRISPR-based enrichment technologies, is further transforming what’s possible in targeted sequencing.

The key stakeholder landscape includes:

• OEMs : Technology providers like Illumina, Thermo Fisher Scientific, and Oxford Nanopore, who develop sequencing platforms and reagent kits.
• Clinical laboratories and academic medical centers , who are end-users and R&D partners.
• Biopharma companies , who use targeted sequencing in drug development and biomarker validation.
• Governments and health insurers , who are evolving reimbursement policies and funding national genomic initiatives.
• Investors and venture capital firms , backing sequencing startups with AI-powered diagnostic engines and cloud genomics infrastructure.

As the clinical utility of precision diagnostics increases—especially in oncology, rare disease detection, and infectious disease monitoring—targeted DNA/RNA sequencing will not only command market share but also influence treatment protocols globally.

2. Market Segmentation and Forecast Scope

The targeted DNA/RNA sequencing market is organized into distinct segments to capture the diverse applications, end-user dynamics, and technological delivery models. These segments shape how the market is forecasted, benchmarked, and invested in between 2024 and 2030 .

➤ By Technology

• Hybridization-Based Target Enrichment
• Amplicon-Based Target Enrichment

Hybridization-based methods dominate revenue share in 2024, accounting for approximately 58% of the global market. These protocols are well-suited for capturing broader genomic regions and are highly customizable for clinical and research use. However, amplicon-based sequencing is anticipated to be the fastest-growing segment , driven by its lower input requirements and cost-effectiveness, especially in infectious disease diagnostics and liquid biopsy applications.

Amplicon-based panels are seeing rising adoption in community hospitals and decentralized labs for targeted oncology panels due to their simplicity and short turnaround times.

➤ By Application

• Oncology
• Inherited Diseases
• Neurological Disorders
• Infectious Diseases
• Pharmacogenomics
• Others (Cardiovascular, Autoimmune)

Oncology remains the anchor application, with wide-scale deployment of targeted gene panels for tumor profiling, minimal residual disease (MRD) monitoring, and immunotherapy selection. That said, infectious disease surveillance (e.g., for antimicrobial resistance genes or viral variants) is gaining strategic momentum in public health labs globally.

➤ By Sample Type

• DNA-Based Assays
• RNA-Based Assays
• cfDNA and Liquid Biopsy Specimens
• FFPE Tissue Samples
• Others (Fresh Frozen, Whole Blood)

The cfDNA (circulating free DNA) and liquid biopsy segment is projected to grow at a CAGR of 17.2% , becoming a focal point due to its non-invasive nature and potential for longitudinal monitoring.

➤ By End User

• Academic and Research Institutions
• Hospitals and Clinical Laboratories
• Biopharmaceutical and Biotechnology Companies
• Contract Research Organizations (CROs)
• Public Health Agencies

Hospitals and clinical laboratories held the largest market share in 2024, reflecting increasing demand for NGS-based diagnostics in oncology and prenatal screening. However, biopharmaceutical companies are leveraging targeted sequencing for stratified clinical trials and biomarker discovery—making them a high-growth segment.

➤ By Region

• North America
• Europe
• Asia Pacific
• Latin America
• Middle East & Africa (MEA)

North America leads the market in terms of revenue and infrastructure maturity, while Asia Pacific —particularly China, India, and South Korea—is emerging as the fastest-growing region due to national genomics programs and rising medical tourism.

Forecast models from Strategic Market Research apply a bottom-up methodology by triangulating secondary research, company filings, and real-world adoption benchmarks, calibrated across these segment lines from 2024 to 2030.

3. Market Trends and Innovation Landscape

The targeted DNA/RNA sequencing market is undergoing rapid technological evolution, characterized by a convergence of bioinformatics, automation, artificial intelligence (AI), and single-cell genomics . Innovation in both wet-lab protocols and dry-lab analytics is reshaping the competitive landscape, while opening doors to new clinical applications and regulatory acceptance.

🔬 Precision-Driven Innovations in Enrichment Chemistry

One of the foremost trends is the continued refinement of hybridization and amplicon enrichment chemistries . Companies are introducing ultra-specific probes, reducing off-target noise and increasing yield, which has dramatically improved panel sensitivity in detecting low-frequency variants , especially in oncology and prenatal diagnostics. The move from standard hybrid capture kits to modular, customizable panels is also empowering labs to tailor sequencing workflows to specific populations or study cohorts.

For example, targeted panels can now be designed in under two weeks and shipped ready-to-use, enabling localized precision medicine even in emerging economies.

💡 AI-Enhanced Data Interpretation

AI and machine learning are making profound impacts on variant calling, annotation, and clinical decision support . Platforms now integrate AI algorithms to distinguish benign from pathogenic variants, link mutations to potential treatment regimens, and prioritize clinically actionable findings—all in real time.

This is particularly valuable in oncology, where sequencing outputs must be rapidly converted into treatment recommendations, often within days.

Startups and genomic informatics companies are also deploying natural language processing (NLP) tools to automate literature curation and integrate up-to-date clinical trial data with variant databases. This is increasing diagnostic yield while decreasing time to report.

🌐 Cloud-Based Genomic Pipelines and Interoperability

Another transformative trend is the proliferation of cloud-native bioinformatics platforms that offer seamless integration with NGS hardware, LIMS systems, and EHRs. These platforms support automated secondary and tertiary analysis , ensuring data security, compliance (HIPAA/GDPR), and real-time collaboration across geographically dispersed teams.

In tandem, global regulatory bodies are pushing for standardized data formats such as HL7 FHIR Genomics and GA4GH frameworks, which will further reduce barriers to cross-border collaboration and data harmonization.

🤝 Strategic Partnerships and Collaborations

Key players are increasingly engaging in academic–industry partnerships and co-development agreements to accelerate clinical validation of new targeted panels. In the past two years, major announcements include collaborations between sequencing companies and large cancer centers , aimed at co-developing companion diagnostics and tumor mutation burden (TMB) assays .

Moreover, large CROs and pharmaceutical companies are investing in targeted sequencing pipelines for patient stratification in clinical trials , which helps optimize trial success rates and drug response forecasting.

🧪 New Frontiers: CRISPR, Long-Read Targeted Sequencing

Emerging methods like CRISPR-based target enrichment and long-read sequencing (e.g., using Oxford Nanopore or PacBio platforms) are gaining traction. These technologies overcome challenges like GC bias, structural variant detection, and isoform resolution , making them highly attractive for RNA-based applications and structural genomics.

CRISPR-based enrichment allows ultra-specific selection of hard-to-amplify genomic regions without the need for traditional PCR, improving uniformity and depth of coverage in complex loci.

As these innovations mature, we anticipate a growing shift toward single-cell targeted RNA sequencing in neurology and immuno-oncology, which offers insights at an unprecedented resolution.

4. Competitive Intelligence and Benchmarking

The targeted DNA/RNA sequencing market is defined by a high concentration of innovation-driven players that differentiate themselves based on platform technology, panel customization capabilities, informatics integration , and clinical-grade validation . The competitive dynamics are shaped by a blend of established sequencing giants , informatics pioneers , and clinical diagnostics startups —each leveraging unique assets to expand market share.

🏢 Key Players and Strategic Profiles

Illumina Inc. As a global sequencing powerhouse, Illumina commands a dominant presence with a wide portfolio of enrichment kits and sequencing platforms. Its TruSight and AmpliSeq panels (used via partnerships) are widely deployed across oncology and inherited disease diagnostics. Illumina's strategy revolves around vertical integration—offering end-to-end solutions from library prep to bioinformatics—and strengthening its base in regulated clinical markets , including the FDA-approved use of its assays.

Thermo Fisher Scientific A formidable competitor in clinical NGS, Thermo Fisher differentiates with its Ion Torrent platforms and Oncomine panels . The company is particularly strong in amplicon-based enrichment , with workflows optimized for FFPE samples and rapid turnaround times. It actively partners with pharma companies for companion diagnostics , cementing its presence in precision oncology.

Agilent Technologies Agilent brings innovation to hybrid capture kits ( SureSelect ) and automation-ready protocols, making it a preferred vendor for large-volume genomic labs. It targets academic medical centers and CROs, focusing on custom assay design and scalability . The company's growth strategy includes strategic acquisitions in molecular biology and informatics to enhance vertical offerings.

Roche Sequencing Solutions Leveraging its diagnostics heritage, Roche integrates targeted NGS with pathology and oncology diagnostics. Its offerings, particularly for liquid biopsy and RNA-based detection , are tuned for clinical-grade use. Roche also differentiates through its cloud-based software that aligns sequencing results with treatment pathways, driving clinical actionability .

Twist Bioscience A disruptor in the field, Twist Bioscience specializes in synthetic DNA and high-density target enrichment . Its scalable platform enables users to order fully customizable panels with unprecedented specificity. Twist has made inroads with biotech and pharma firms seeking precision biomarker assays for stratified drug trials and exploratory biomarker research.

Guardant Health Although primarily known for liquid biopsy diagnostics, Guardant Health has become a key player in targeted sequencing through its Guardant360 panels , used extensively for detecting genomic alterations in advanced cancers. Its competitive edge lies in real-world clinical data and high sensitivity in cfDNA analysis , making it a leader in non-invasive cancer detection.

Qiagen Qiagen continues to grow its footprint through sample-to-insight platforms , especially in infectious disease and hereditary condition panels . The company invests heavily in automating workflows for smaller labs and has strategic partnerships for integrating results into clinical decision support systems .

🧠 Competitive Benchmarks

Companies are increasingly judged not just by technological innovation, but by their ability to deliver clinical relevance, analytical validation, and ecosystem interoperability.

5. Regional Landscape and Adoption Outlook

The targeted DNA/RNA sequencing market reveals sharp regional contrasts in adoption, funding, infrastructure, and regulatory readiness. While North America and Europe lead in maturity and integration into clinical practice, Asia Pacific is evolving as a high-growth region, and Latin America and MEA offer long-term white-space potential for infrastructure and public health genomics expansion.

🌎 North America — Market Leader with Regulatory Momentum

North America , led by the United States , represents the largest share of the global targeted sequencing market in 2024. The region’s dominance stems from:

• Strong reimbursement frameworks for NGS-based diagnostics (especially under CMS in the U.S.)
• Early adoption by oncology centers , research hospitals, and genetic counseling networks
• Leading presence of OEMs like Illumina, Thermo Fisher , and Guardant Health
• Active FDA oversight and guidance for LDTs (laboratory-developed tests) and companion diagnostics

The U.S. is also pioneering value-based care initiatives , encouraging health systems to adopt genomics as a decision-support tool, particularly for cancer and rare diseases.

Canada, meanwhile, is investing in national genomic strategies under Genome Canada, especially for rare disease sequencing in pediatrics .

🌍 Europe — Advancing with Integration and Equity Goals

Europe is the second-largest region and a hub for standardization and clinical implementation . The European market benefits from:

• Centralized healthcare systems supporting regional-scale adoption
• Presence of world-class genomic programs such as the 100,000 Genomes Project (UK) and France Genomic Medicine 2025
• Growing demand for germline testing and carrier screening

Germany, the UK, and France are the key markets, with Denmark and the Netherlands leading in population-wide sequencing programs . Europe also benefits from GDPR-aligned data governance , making it a leader in genomic data privacy and patient ownership frameworks .

However, adoption varies widely among EU countries, with Southern and Eastern Europe lagging due to funding and infrastructure disparities.

🌏 Asia Pacific — Fastest-Growing Market with National Genomics Agendas

Asia Pacific is the fastest-growing region , with a CAGR projected above 17% through 2030. This growth is fueled by:

• Government-led precision medicine programs in China, India, South Korea, and Japan
• Large patient populations with diverse genetic profiles
• Rapid expansion of NGS capacity in public hospitals and academic centers

China is aggressively investing in genomics through its China Precision Medicine Initiative , with local giants like BGI Genomics scaling targeted panels for oncology and infectious disease. India has launched IndiGen , a government-backed project mapping genetic variability across ethnicities, boosting demand for population-specific panels.

Japan’s National Cancer Center is a pioneer in using targeted sequencing for cancer registry-linked screening.

The region, however, grapples with regulatory heterogeneity and the need for workforce upskilling , especially in secondary data interpretation and bioinformatics.

🌎 Latin America — Emerging Use Cases in Oncology and Infectious Disease

Latin America is an emerging market with uneven but promising adoption . Key growth drivers include:

• High unmet needs in oncology diagnostics
• Increasing prevalence of infectious diseases (e.g., tuberculosis, viral outbreaks)
• Government-led pilot genomics programs in Brazil, Mexico, and Chile

Brazil leads the region with government initiatives in rare disease diagnostics and neonatal genomics . However, systemic issues such as limited sequencing infrastructure , fragmented healthcare systems , and cost barriers persist.

🌍 Middle East & Africa (MEA) — White-Space with Public Health Potential

The MEA region remains in the early stage of targeted sequencing adoption. However, Gulf countries such as UAE, Saudi Arabia , and Qatar are investing in genomic medicine hubs and population-level sequencing , particularly for rare diseases and consanguinity-associated conditions.

Africa has largely focused on infectious disease genomics (e.g., for HIV and malaria), supported by collaborations like the African Society of Human Genetics and H3Africa.

Long-term growth will depend on:

• Strengthening bioinformatics ecosystems
• Lowering costs via portable and decentralized sequencing platforms
• International funding support for capacity building and technology transfer

Regional adoption of targeted sequencing is no longer purely driven by cost or infrastructure—it is shaped by national health priorities, strategic genomics programs, and policy frameworks that support equitable access to molecular diagnostics.

6. End-User Dynamics and Use Case

The adoption of targeted DNA/RNA sequencing spans a wide spectrum of end users, from hospital systems and academic institutions to biotech firms and public health agencies . Each user group brings unique requirements in terms of throughput, regulatory compliance, sample types, and interpretative complexity.

🏥 Hospitals and Clinical Laboratories

These entities form the backbone of clinical implementation , particularly for oncology, inherited diseases, and prenatal testing. Hospitals typically favor FDA-cleared or CE-IVD panels that offer streamlined workflows and integration with existing LIMS systems. Use is driven by the need for:

• Therapy selection for cancer patients (e.g., identifying EGFR, BRCA, or KRAS mutations)
• Carrier screening and non-invasive prenatal testing (NIPT)
• Routine germline and somatic mutation detection

Larger clinical labs often run high-throughput platforms and rely on automation to manage sample volume and reporting turnaround. These labs also emphasize data accuracy and regulatory compliance , especially in regions like the U.S. and EU.

🎓 Academic and Research Institutions

Universities and medical research centers use targeted sequencing in discovery-driven applications . They often build custom panels to study disease mechanisms, gene regulation, and ethnic-specific variants.

• These users prioritize flexibility, customization, and deep coverage
• Most operate in-house bioinformatics teams , capable of de novo analysis and data interpretation

Academic groups are also key collaborators in national sequencing programs and play a vital role in validating new biomarkers or translating research into clinical assays.

💊 Biopharmaceutical and Biotechnology Companies

For pharma and biotech firms, targeted sequencing is embedded in the drug development lifecycle :

• Patient stratification during clinical trials
• Biomarker discovery for targeted therapies
• Companion diagnostics ( CDx ) development

They work closely with CROs or sequencing service providers to co-develop gene panels specific to therapeutic areas, especially oncology and rare diseases. This end-user group seeks high accuracy, reproducibility, and fast data turnaround to meet trial timelines and regulatory submission standards.

🧪 Contract Research Organizations (CROs)

CROs act as intermediaries, conducting sequencing on behalf of sponsors for clinical studies and validation projects. Their requirements include:

• Regulatory-grade compliance
• Scalable throughput
• Access to both wet-lab and bioinformatics pipelines

Many CROs offer bundled services—including IRB approval, sequencing, interpretation, and data submission—creating value for biopharma clients who lack in-house capabilities.

🏛 ️ Public Health Agencies and Government Labs

This group is emerging as a significant player, especially in pathogen surveillance, rare disease registries , and population genomics . Governments increasingly fund and operate labs that deploy targeted panels for:

• Surveillance of AMR genes and viral mutations
• Newborn screening and neonatal genetic disease detection
• Cancer registries and epidemiologic studies

Such programs are especially prevalent in Europe, Asia Pacific , and Latin America , and are instrumental in capacity building and equitable access .

📍 Use Case Scenario: South Korean Tertiary Hospital Integrates Targeted RNA Sequencing for Lung Cancer Stratification

A leading tertiary hospital in Seoul, South Korea, implemented a targeted RNA sequencing panel to analyze fusion genes in lung cancer patients. Prior to sequencing, patients underwent imaging and biopsy collection. Using a 50-gene RNA fusion panel, the lab could detect rare ALK, ROS1, and RET gene fusions in FFPE samples.

As a result, over 22% of patients received targeted therapy recommendations based on their fusion status—cutting diagnostic turnaround from 14 days to under 5 days. The panel also reduced unnecessary broad NGS tests, saving over $400 per case.

This integration not only improved clinical outcomes but also aligned with South Korea’s national precision oncology initiative—demonstrating the transformative role of targeted sequencing in routine care.

7. Recent Developments + Opportunities & Restraints

🔄 Recent Developments (2023–2025)

• Illumina and AstraZeneca announced a multi-year collaboration (2023) to co-develop targeted companion diagnostic assays for oncology using next- gen sequencing panels integrated with AI-based treatment decision software.
• Twist Bioscience launched its RNA Exome Panel (2024), optimized for degraded samples like FFPE tissues, enabling high-sensitivity transcriptome-level insights in cancer and immunology research.
• In 2024, Guardant Health received FDA breakthrough device designation for its targeted cfDNA panel intended for minimal residual disease (MRD) detection in early-stage colorectal cancer.
• Agilent Technologies introduced the SureSelect Human All Exon V9 + UTR panel (2023), which includes targeted UTR capture for expanded transcriptomic resolution in disease gene studies.
• South Korea’s National Cancer Center partnered with Thermo Fisher Scientific (2025) to expand the country's precision oncology network using targeted amplicon sequencing workflows for real-time therapy decision support.

🔁 Opportunities

• Expansion into Emerging Markets Governments in India, Brazil, and Southeast Asia are rolling out genomic medicine programs, creating demand for localized targeted panels.
• Integration with AI Diagnostics Platforms The convergence of targeted sequencing with AI-powered interpretation tools will reduce turnaround time, improve accuracy, and scale adoption among small and mid-sized labs.
• Growth in Liquid Biopsy Applications As liquid biopsy becomes a standard for cancer monitoring, targeted cfDNA panels offer scalable, non-invasive alternatives to whole-genome methods—especially valuable for longitudinal surveillance.

⚠️ Restraints

• Regulatory Complexity and Reimbursement Gaps The lack of harmonized global standards for NGS-based diagnostics creates bottlenecks for international product launches. Payer reluctance to reimburse newer panels limits adoption outside oncology.
• Shortage of Trained Bioinformatics Talent Many regions face a severe skills gap in analyzing and interpreting sequencing data, slowing implementation and increasing reliance on outsourced analytics.