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.

Clinical adoption has structurally accelerated across oncology (tumor profiling, MRD, ctDNA), genetic disease, and infectious-disease surveillance as payers expand NGS coverage (U.S. Medicare NCD 90.2/LCDs), regulators clear broader CDx panels, and national genomics programs ramp volume. Net effect: higher recurring reagent pull-through per case, faster test-menu expansion in CLIA/IVD labs, and rising panel complexity that favors targeted over whole-genome for routine decisions.

 

Targeted DNA/RNA Sequencing Market Size & Growth Insights

• Global 2024–2030: $4.1B → $9.8B at 14.7% CAGR.

• U.S. 2024–2030: ~$1.17B → ~$2.38B at 12.6% CAGR.

• Europe 2024–2030: ~$1.19B → ~$2.25B at 11.4% CAGR.

• APAC 2024–2030: ~$0.70B → ~$1.79B at 17% CAGR.

• 2024 regional shares: North America 39%, Europe 29%, APAC 17%.

Procurement mix is skewing toward clinical (oncology/MRD/NIPT) as Medicare and MolDX pathways standardize coverage for tumor panels and MRD, supporting lab menu expansion and higher test volumes; this structurally increases reagent-driven recurring revenue (enrichment kits, library prep, UMI-based error suppression) vs. one-time instruments.

Pricing dispersion is widening: ultra-low-LoD MRD workflows (deep sequencing + UMIs) command premium per-sample pricing and higher covered amounts than standard hotspot panels, reinforcing a “premium reagents” tier within targeted sequencing.

 

Key Market Drivers

• MRD normalization: Growth in ctDNA-MRD clinical trials and LCD coverage language is pushing labs to adopt deep targeted panels with UMIs; this materially lifts read-depth consumption and consumables per patient.

• CDx momentum: FDA continues to expand the roster of IVD CDx, including large targeted NGS panels (e.g., TruSight Oncology Comprehensive 517-gene IVD, 2023), accelerating hospital adoption and pharma co-development.

• Genomic surveillance & public health: WHO-led genomic surveillance capacity increases (62% growth for SARS-CoV-2 sequencing capacity 2021–2023) entrench targeted workflows in infectious-disease labs and wastewater programs.

• National genomics programs: Genomics England’s ongoing NHS GMS releases and similar APAC frameworks drive steady clinical volume and infrastructure readiness for targeted panels.

 

Market Challenges & Restraints

• Regulatory fragmentation & QC: Variability across FDA/EMA/MHRA/PMDA expectations for analytical validity and bioinformatics QC creates multi-jurisdiction cost and documentation burden for labs and OEMs.

• Community-hospital cost pressure: Despite NCD 90.2, local coverage and coding nuances (MolDX LCDs) can delay reimbursement in community settings, slowing menu expansion beyond oncology.

• FFPE/RNA fusion sensitivity: Degraded tissue increases error rates for fusion calls, demanding optimized chemistries/UMIs and repeat testing—raising per-case consumables but risking payer scrutiny.

 

Trends & Innovations

• UMI-based, ultra-deep MRD: Error-suppressed ctDNA assays (<0.01% VAF) expand adjuvant/monitoring markets; premium reagent SKUs and deeper sequencing translate to higher ASPs per test.

• Hybrid architectures: Combined hybrid-capture + amplicon kits balance breadth with sensitivity for MRD and fusions, improving first-pass yield and reducing reruns—directly improving lab margin.

• CRISPR-guided enrichment & long-read targeted RNA: Targeted selection of hard loci and isoforms improves SV/fusion resolution; early clinical utility work is underway in oncology and inherited disease.

• Cloud pipelines & standards: GA4GH standards (Phenopackets, VA-Spec, Pedigree) and NHS GMS data operations enable scalable tertiary analytics and interoperability, compressing report TATs.

 

Competitive Landscape

• IVD tumor-agnostic/large panels: FDA’s 2023 clearance of TruSight Oncology Comprehensive (517 genes) underscores a shift to broad, tumor-agnostic IVD menus integrated with treatment selection—differentiating platforms with validated bioinformatics and reporting.

• Payer-linked MRD paths: LCDs explicitly reference NCD 90.2 for cancer NGS and outline billing/coding for solid-tumor panels and MRD, enabling labs to scale MRD services with clearer revenue models.

• CRO expansion: National programs (NHS GMS) and pharma biomarker trials are increasing outsourced targeted sequencing throughput and data-curation needs, expanding CRO service lines.

 

United States Targeted DNA/RNA Sequencing Market Overview

• Reimbursement backbone → clinical volume: Medicare’s NCD 90.2 remains the national anchor for NGS in oncology, while MolDX LCD L38822 (MRD) language operationalizes coverage for ctDNA-MRD in solid tumors—sharpening coding, medical-necessity criteria, and documentation expectations for deep, error-suppressed targeted panels in CLIA labs.

• Budget engine for translational pipelines: NIH reports a ~$48B program level with ~82% extramural spend, sustaining thousands of grants that directly feed panel content updates (variants, fusions, methylation targets) and clinical utility data—accelerating menu refresh and CDx readiness in hospital and reference labs.

• Operational implications for labs: The NCD/LCD combo pushes labs toward UMI-based, ultra-deep assays and documentation-ready bioinformatics QC to meet payer evidence thresholds for MRD and broad solid-tumor panels; this favors automation-native library prep and higher per-sample read budgets that lift reagent pull-through.

 

Europe Targeted DNA/RNA Sequencing Market Overview

• Demographics = durable demand: The EU’s old-age dependency ratio hit 37.0% on 1 Jan 2024, reinforcing steady oncology and chronic-disease testing volumes in national systems moving toward routine targeted NGS utilization.

• Real clinical throughput signals: Genomics England’s NHS GMS Release v4 (Aug 2024) reported 34,319 genomes (~30k rare disease; 4.3k cancer), and GMS Release v5 (Aug 2025) grew to 40,968 genomes, evidencing continuous pipeline expansion that drives confirmatory and reflex targeted panels in hospital labs.

• Policy alignment: EU ageing and sustainability planning plus national genomic medicine strategies collectively shape procurement toward IVD-grade targeted panels, structured biobank-linked reporting, and interoperable clinical genomics services.

 

APAC Targeted DNA/RNA Sequencing Market Overview

• Japan: PMDA’s cancer genomic-medicine framework and practice guidance formalize targeted NGS within care pathways → predictable adoption in tertiary centers and regional hospitals, with knock-on demand for compliant reagents and reporting pipelines.

• Korea: Nationwide precision-oncology programs and reimbursement beginning in 2017 have matured into routine NGS panel use and MTB-guided decisions—sustaining case volumes for targeted DNA/RNA panels as part of standard cancer workups.

• India: Government-backed GenomeIndia crossed the 10,000-genome milestone and launched public data portals in 2025, catalyzing population-specific variant catalogs and local panel optimization for oncology and inherited disease.

• China: The NMPA issued (June 2025) guidance to classify NGS-based IVD reagents, tightening registration/management rules and setting timelines that encourage local manufacturing scale-up and hospital adoption of regulated targeted assays.

 

Segmental Insights

By Technology

• Hybridization-based retains leading 2024 revenue share (~58%), favored for breadth/customization in clinical panels; amplicon-based is fastest-growing for rapid, lower-input workflows in infectious disease and decentralized labs.

By Application

• Oncology dominates volumes (CDx panels, MRD). FDA’s expanding CDx table and tumor-agnostic IVDs push standardized menus; MRD trials across CRC, lung and others grow rapidly, increasing deep-sequencing runs per patient.

• Infectious disease & surveillance: WHO-supported genomic surveillance capacity grew 62% (2021–2023) for SARS-CoV-2; wastewater modules and AMR/WGS playbooks drive targeted panel use in public-health labs.

• Genetic disease/NIPT: NHS GMS releases demonstrate sustained rare-disease testing programs feeding targeted confirmation/segmented panels.

By End User

• Hospitals & Clinical Labs: Continued adoption of large IVD panels and MRD assays under payer coverage frameworks increases test complexity and reagent intensity.

• Academic Institutions & Pharma/Biopharma: NIH/NCI funding and SRA petabase-scale datasets expand biomarker discovery and panel content refresh cycles.

• CROs & Public Health Agencies: Outsourced sequencing and data/standards initiatives accelerate trial enrollment analytics and population-scale surveillance reporting.

By Sequencing Objective

• Variant detection & CNV in tumor profiling benefits from broad IVDs; fusion detection (RNA) grows with therapy selection needs; methylation and ultra-low-LoD MRD drive deeper coverage and premium workflows.

 

Investment & Future Outlook

Capital is flowing to clinical-grade panel manufacturing, QC automation, and cloud bioinformatics to de-risk regulatory submissions and speed reporting; NHS and national programs indicate durable spend on sequencing in health systems, pointing to continued reagent and service growth through 2026–2032.

 

Evolving Landscape

Therapeutic decision-making is shifting from isolated single-analyte tests to multi-biomarker targeted NGS; laboratories are transitioning LDT menus toward FDA-regulated CDx where feasible to stabilize reimbursement and payer confidence.

 

R&D & Innovation Pipeline

• Exon–intron-spanning RNA panels for fusions/isoforms to improve therapy matching.

• Ultra-high-depth ctDNA MRD with UMI error suppression targeting <0.01% VAF, scaling across adjuvant/monitoring trials.

• Targeted methylation sequencing for early cancer detection entering prospective studies.

• Long-read targeted RNA for isoforms/SVs to complement short-read panels in neuro-oncology and immunology.

• Barcoding/UMIs & QC pipelines industrialized within IVD submissions and payer-facing documentation to standardize analytical performance reporting.

 

Regulatory & Compliance Landscape

• U.S.: NCD 90.2 remains foundational; MRD and solid-tumor LCDs clarify billing; continued FDA IVD/CDx approvals expand targeted menus.

• Europe/UK: EMA/MHRA initiatives and UK post-market surveillance regulations (effective 16 June 2025) elevate evidence and vigilance requirements for IVDs.

• APAC: PMDA practice guidance formalizes cancer NGS testing within hospital-centered genomic medicine systems, supporting consistent clinical deployment.

 

Pipeline & Competitive Dynamics

• MRD/early detection startups leverage deep targeted + UMI pipelines aligned to LCD coverage language, positioning for rapid payer uptake post-validation.

• CRO service lines expand targeted sequencing for biomarker-stratified trials; NHS GMS data access spurs real-world evidence services.

• Sequencer-agnostic reagent makers focus on modular capture/amplicon kits and CRISPR enrichment to disrupt price/performance and time-to-custom-panel.

 

Strategic Recommendations

• Reagent Manufacturers: Prioritize MRD-grade UMI chemistries and automation-native library prep; package analytical-validation dossiers mapped to LCD language to accelerate payer adoption.

• Instrument OEMs: Deepen cloud/GA4GH-aligned reporting and decision-support integrations to shorten TAT and raise stickiness with hospital systems.

• Clinical Genomics Labs/CDx Developers: Sequence menu design around FDA-cleared broad panels plus MRD add-ons; architect billing to MolDX rules; target tumor-agnostic CDx indications.

• Investors/PE: Favor platforms with payer-aligned MRD pipelines and NHS/WHO-compatible infectious-disease modules for diversified clinical revenue.

 

Strategic Landscape

• CDx co-development between sequencing OEMs and pharma expands large panel indications and speeds label-linked utility.

• MRD technology licensing and LCD-compatible reporting pipelines spread across labs and CROs to meet payer documentation standards.

• Bioinformatics + sequencing integrations leverage GA4GH standards to align real-world evidence and clinical reporting at scale.

Targeted DNA/RNA sequencing is scaling as the practical backbone of precision medicine: payer frameworks stabilize, broad IVD panels and MRD workflows expand, and national genomics programs provide durable clinical volume—driving sustained reagent-led revenue growth while preserving the exact market trajectory you specified for 2024–2030.

 

Strategic Highlights & Takeaways

1. Clinical revenue mix rises as NCD/LCD coverage normalizes targeted panels and MRD; protect margin via automation-ready kits and UMI pipelines.

2. Broad IVD panels (517-gene class) anchor menus, enabling tumor-agnostic therapy matching and CDx partnerships.

3. Genomic surveillance capacity +62% (2021–2023) cements infectious-disease targeted use cases alongside oncology.

4. Europe ages (median 44.7; dependency 37%), sustaining oncology and chronic-disease testing demand; GMS datasets continue to grow.

5. Data scale explodes — SRA at 52 petabases (Jan-2024) — fueling biomarker discovery and frequent panel refreshes.

6. APAC formalizes NGS in care pathways, unlocking hospital-based sequencing growth.

7. Build upside via MRD, RNA fusions, and payer-aligned reporting automation.

 

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.