Targeted Sequencing And Resequencing Market Size & Share Analysis - Growth Trends And Forecast (2025 - 2030)

Global Targeted Sequencing And Resequencing Market Trends and Insights

Falling NGS Costs & Throughput Gains

Rapid cost compression is making broad panels economically comparable with single-gene assays. Ultima Genomics reached sub-USD 100 whole-genome costs in 2024, and Illumina’s NovaSeq X lowered per-sample expense by 60% compared with earlier systems.^{[1]Labcorp, “Labcorp Expands Collaboration With Ultima Genomics,” Labcorp, labcorp.com} Labcorp scaled molecular residual disease testing after partnering with Ultima Genomics, showing how lower consumable spend unlocks new clinical services. Higher lane densities shorten run times, improving turnaround that once favored PCR. Cost and speed gains together help hospitals fold comprehensive profiling into routine oncology pathways. These dynamics underpin sustained double-digit expansion in the targeted sequencing market.

Rising Oncology Panel Testing in Clinical Labs

Therapy guidelines now require concurrent analysis of multiple genes, prompting laboratories to replace serial single-marker tests with pan-cancer panels. The U.S. FDA classified NGS tumor-profiling assays as Class II devices in 2024, clarifying validation expectations and accelerating uptake.^{[2]Food and Drug Administration, “21 CFR 866.6080—NGS Tumor Profiling Test,” U.S. Food and Drug Administration, fda.gov} FoundationOne CDx already spans 300 genes and carries seven breast-cancer companion indications, illustrating the breadth clinicians demand.^{[3]Foundation Medicine, ''FDA Approves FoundationOne Liquid CDx for PIK3CA Detection,” Foundation Medicine, foundationmedicine.com} Liquid biopsy advances allow iterative monitoring without tissue re-biopsy, and AI interpretation tools reduce the informatics load on pathology teams. Collectively, these factors lift routine panel ordering volumes in oncology clinics worldwide.

Regulatory Approvals for Companion Diagnostics

The FDA’s accelerated pathways encourage drug developers to bind trials tightly to genomic biomarkers, boosting demand for validated panels. FoundationOne Liquid CDx secured clearance in 2024 for PIK3CA mutation detection in breast-cancer patients receiving inavolisib therapy. Parallel review by the European Medicines Agency harmonizes standards across key markets, widening commercial reach. Larger panel complexity increases the compliance burden, favoring vendors with extensive regulatory teams. Requirements for real-world evidence also privilege companies that manage longitudinal genomic datasets. These dynamics collectively add momentum to the targeted sequencing market.

CRISPR-Cas–Based Target-Enrichment Workflows

Programmable CRISPR guides deliver higher specificity in GC-rich or repetitive loci where hybrid-capture panels struggle. Customization cycles are measured in days rather than the weeks needed for probe synthesis, benefiting fast-moving research projects. Integration with long-read instruments improves structural variant detection that short reads miss. Machine learning now optimizes guide selection for efficiency, further raising performance ceilings. Licensing complexity around foundational patents may slow broad commercialization yet early adopters in translational labs are expanding use cases. These advantages position CRISPR enrichment for outsized growth inside the targeted sequencing industry.

High Cap-Ex & Service Contract Costs

Sequencers, automation lines, and annual service contracts require investments that many hospitals and regional labs cannot justify at current test reimbursements. Deferred purchases elongate replacement cycles, slowing uptake in mid-tier facilities. Leasing models ease upfront expense but increase lifetime cost, pressuring budgets. Emerging-market buyers face import duties and limited financing options, widening the digital divide. These hurdles moderate near-term growth even as technology costs fall.

Bioinformatics Talent Shortage & Data Bottlenecks

Clinical labs report 40% vacancies for qualified genomic analysts, making data interpretation the primary operational bottleneck. The skills gap drives salary inflation and staff turnover that small labs cannot match. Cloud platforms offload compute demand yet regulations still require human sign-off, preserving labor pressure. Data storage for whole-genome pipelines strains IT budgets, especially when retention policies mandate multiyear archiving. Unless workforce development accelerates, informatics constraints will temper expansion in the targeted sequencing market.

Segment Analysis

By Technology: CRISPR Disrupts Hybrid-Capture Dominance

Hybrid-capture sequencing held a 47.82% share of the targeted sequencing market in 2024, underscoring its long validation history in clinical labs. This technology anchors multigene oncology panels and enjoys a wide installed base of automation-ready protocols. Even so, CRISPR-based enrichment is expanding at a 26.36% CAGR through 2030, and its momentum is visible in translational centers that regularly update panels for novel biomarkers. The superior on-target rate of guide RNA–directed cleavage improves performance in GC-rich loci, while shorter design cycles let researchers pivot quickly when new genes enter drug pipelines. Vendors now bundle AI software that predicts guide efficiency, reducing wet-lab iterations and speeding time to result. 

Workflow innovation is also reshaping economics. In 2025, several core facilities reported a 40% drop in consumable spend after shifting repetitive-region assays from hybrid-capture to CRISPR enrichment, a saving that amplified throughput gains delivered by NovaSeq X patterned flowcells. Meanwhile, amplicon sequencing retains its niche for hotspot mutation testing where panel sizes are under 50 kilobases and turnaround must stay below 24 hours. Molecular inversion probes continue to support large population-genetics studies because the circular capture design lowers reagent cost per sample at scale. Collectively, these forces keep technology diversification high even as CRISPR captures incremental share inside the targeted sequencing market.

Note: Segment shares of all individual segments available upon report purchase

By Sample Type: RNA Growth Accelerates Despite DNA Dominance

DNA maintained a commanding 69.42% share of the targeted sequencing market in 2024, reflecting mature regulatory guidance and stable reimbursement for variant detection in oncology. Hospitals also lean on existing DNA extraction workflows, minimizing change-management hurdles. Still, RNA sequencing is moving swiftly, advancing at a 25.87% CAGR as drug developers hunt expression signatures that predict immunotherapy response. Pharmaceutical sponsors now embed transcriptomic endpoints in Phase II trials, creating steady demand for clinical-grade RNA workflows. Cost per sample remains higher than DNA because of ribosomal RNA depletion and quality-control steps, yet sponsors are willing to pay the premium when gene-expression data accelerate go/no-go decisions. 

Technical progress is narrowing the gap. Enzymatic repair kits that reverse formalin cross-links in FFPE RNA lifted usable-read counts by 30% in 2024, improving pass rates for archival samples. Cell-free RNA protocols entered early adopter clinics, where non-invasive monitoring of allograft rejection reduced biopsy frequency in kidney-transplant recipients. Oxford Nanopore’s duplex reads further lowered error rates, encouraging laboratories to test long-read RNA for fusion-gene detection. These advances collectively push RNA toward double-digit share by 2030, reinforcing the long-term growth profile of the targeted sequencing market.

By Application: Rare-Disease Diagnostics Challenge Oncology Leadership

Oncology accounted for 63.22% of the targeted sequencing market share in 2024, sustained by guideline-linked reimbursement and the routine use of multigene panels in solid-tumor therapy selection. Volume also benefits from rising liquid-biopsy adoption, which allows clinicians to track tumor evolution without repeat tissue sampling. However, rare-disease diagnostics is posting the fastest 24.78% CAGR on the back of newborn genomic-screening pilots and expanded orphan-drug pipelines. U.S. payers now cover trio-based exome sequencing for infants in neonatal intensive care units, lifting test volumes at regional children’s hospitals. 

Rare-disease programs also carry strategic importance for pharmaceutical companies because genomic diagnoses funnel patients into targeted-therapy trials. This virtuous cycle explains why biotech sponsors are underwriting sequencing costs in early access programs. Reproductive-health testing continues steady adoption, moving beyond aneuploidy to inherited-single-gene disorders. Meanwhile, agrigenomics remains a specialized but durable revenue stream for service providers that operate outside the regulated clinical space. Together, this mix keeps oncology dominant yet gradually cedes share as emerging applications broaden the customer set of the targeted sequencing market.

Note: Segment shares of all individual segments available upon report purchase

By End User: Pharma-Biotech Adoption Accelerates

Clinical and diagnostic laboratories held 56.86% of the targeted sequencing market in 2024, buoyed by established payer contracts and CLIA-certified workflows. Routine ordering of hereditary cancer panels and solid tumor profiles fills sequencer capacity in these labs. Pharmaceutical and biotech companies, though, are the fastest-growing customers at 24.63% CAGR because biomarker-stratified trials now dominate oncology pipelines. Sponsors often run tumor-normal sequencing at baseline, longitudinal liquid biopsies, and RNA expression panels—all within the same study—multiplying sample demand. 

Academic centers remain vanguards of method development but face grant-cycle funding constraints that temper absolute revenue contribution. Contract research organizations are filling the gap, winning multiyear sequencing contracts tied to Phase III trial execution. GeneDx’s April 2025 purchase of Fabric Genomics for USD 33 million illustrates the push to internalize AI interpretation so that reports meet regulatory timelines without expanding labor headcount. End-user dynamics therefore reinforce volume diversity, an advantage that stabilizes year-over-year revenue for suppliers in the targeted sequencing market.

Geography Analysis

North America generated 41.23% of 2024 revenue, making it the largest regional block within the targeted sequencing market size. The U.S. landscape benefited from Medicare’s broader hereditary-cancer coverage and the FDA’s standardized oversight of laboratory-developed tests. These policies lowered adoption barriers and provided reimbursement certainty, spurring mid-tier hospitals to install mid-throughput instruments. Yet the region faces wage inflation for bioinformatics professionals, which raises total-test cost and nudges some outsourcing to lower-cost providers abroad. Strengthening of U.S.-centric companion-diagnostic submissions nevertheless ensures a durable domestic pipeline of new panels. 

Asia-Pacific is the growth engine, advancing at 24.33% CAGR as national precision-medicine initiatives scale. China’s BGI Genomics rebounded after earlier regulatory scrutiny, leveraging export-compliant DNBSEQ instruments to win tenders in Southeast Asia. Japan’s reimbursement of tumor-agnostic panels and South Korea’s National Biobank expansion further widen addressable volume. India’s contract-research sector offers cost-efficient genomic testing to global pharma, redirecting trial samples that once flowed to U.S. central labs. Regional diversity imposes regulatory fragmentation, yet local validation studies increasingly adopt global quality frameworks, smoothing market entry. These trends collectively position Asia-Pacific for incremental share gains inside the targeted sequencing market. 

Europe maintains steady momentum underpinned by the European Medicines Agency’s synchronized review of drugs and companion diagnostics. National health-technology-assessment bodies in Germany and France now recognize genomic profiling’s budget impact beyond oncology, opening paths for cardiogenomics and metabolic-disorder panels. However, slower economic growth constrains capital budgets, delaying instrument refresh cycles. Latin America and the Middle East & Africa remain nascent but show rising import volumes for reagent rental systems that minimize upfront spend. Together, these regions contribute diversification that cushions currency or policy shocks affecting any single geography.