The global next generation cancer diagnostics market size was valued at USD 17.79 Billion in 2025 and is expected to reach USD 41.44 billion by 2033, growing at a CAGR of 11.15% from 2025 to 2033. The growth of the industry is anticipated to be driven by the rising incidence of oncology diseases, the need for efficient prognosis and early diagnosis of various forms of cancer, and rising initiatives by key players in the development of innovative solutions to meet the rising demand for efficient diagnostics.
Several tests, including physical examination, laboratory tests, imaging tests, and biopsy, have traditionally been performed in cancer diagnosis. Each step of the usual diagnostic procedure, with the prognosis and therapeutic decision made by oncologists, comes with a well-defined approach to avoid potential complications. This highlights the crucial importance of diagnosis throughout the entire oncology lifecycle, surpassing the therapeutic regimen's significance.
Next-generation sequencing (NGS) has become a transformative force in oncology diagnostics, enabling comprehensive genomic profiling of tumors to match patients with targeted therapies. By identifying actionable mutations and molecular alterations, NGS supports personalized medicine strategies that improve clinical outcomes. However, the impact of sequencing in routine care still requires clearer evidence stratification, as not all patients with actionable mutations ultimately receive targeted therapies. Barriers such as the timing of sequencing within the care pathway, physician interpretation, limited accessibility, and cost-effectiveness continue to restrict broader adoption.
Large-scale initiatives such as the TAPUR Study and the NCI MATCH Study aim to generate robust real-world evidence on the impact of sequencing-driven treatment selection. While CMS’s National Coverage Determination expanded access by approving tests like FoundationOne CDx (F1CDx), the removal of the “coverage with evidence development” requirement has amplified calls for continuous outcome tracking, including metrics such as overall survival, progression-free survival, and response rates. Critics argue that broader panels (such as F1CDx) may add costs without always providing proportional clinical benefit, as illustrated by modest response rates in certain targeted therapy arms of NCI MATCH. This underscores the need for more evidence-based validation of sequencing-guided treatment approaches.
Beyond genomics, the field is rapidly expanding toward multi-omics integration. While DNA provides a static blueprint, complementary approaches such as RNA sequencing (transcriptomics) and proteomics (mass spectrometry) offer dynamic insights into gene expression and protein signaling pathways. Combined with metabolomics, these data layers create a holistic picture of tumor biology. Projects like TCGA have highlighted the promise of integrated-omics, though challenges remain in harmonizing these datasets into clinically actionable outputs.
At the same time, companies are accelerating the clinical deployment of such technologies. In May 2025, Illumina expanded its oncology portfolio with the launch of TruSight Oncology (TSO) Comprehensive, the first FDA-approved distributable CGP IVD kit with pan-cancer CDx claims, which is now reimbursed under Medicare and most commercial plans. The test, covering more than 500 genes, has also gained regulatory approval in Japan and is being integrated into clinical practice across community hospitals and academic centers. Illumina also deepened its partnership with Pillar Biosciences, adding the oncoReveal® CDx panel on the MiSeq Dx System, further democratizing access to in-house tumor profiling. Similarly, in June 2025, QIAGEN and Incyte entered a collaboration to develop a multimodal NGS companion diagnostic for myeloproliferative neoplasms, validated on the Illumina NextSeq 550Dx platform. The test will detect mutCALR mutations, supporting Incyte’s innovative antibody program (INCA033989) for essential thrombocythemia and myelofibrosis. In March 2025, GenomOncology partnered with Chronetyx Laboratories to streamline clinical adoption by integrating its Pathology Workbench software with Chronetyx’s FDA-cleared and CE-IVD-marked Cyx Solid Tumor 505 test, automating tertiary analysis and significantly reducing turnaround times for NGS results. Collectively, these initiatives highlight how leading players are addressing bottlenecks in reimbursement, workflow automation, and biomarker expansion to accelerate precision oncology adoption.
NGS also plays a central role in immuno-oncology diagnostics. Tumor mutational burden (TMB), PD-L1 expression, and neoantigen profiling are increasingly used as biomarkers for response to immune checkpoint inhibitors. Evidence from advanced hepatocellular carcinoma (HCC) shows that TP53 mutations correlate with improved survival, while TERT and BRD4 mutations signal poor prognosis. Exome sequencing combined with proteomics helps identify which neoantigens are presented by the major histocompatibility complex (MHC), guiding personalized immunotherapy strategies.
Emerging diagnostic modalities such as liquid biopsy and single-cell sequencing are further reshaping the market. Liquid biopsy offers a non-invasive method to detect circulating tumor DNA (ctDNA) and monitor treatment resistance in real-time. Meanwhile, single-cell sequencing reveals intratumoral heterogeneity, identifying subclones that may drive resistance or metastasis. Together, these technologies address key limitations of conventional tissue biopsies and are poised to drive faster adoption of precision oncology.
A powerful enabler of these advancements is the integration of artificial intelligence (AI) and machine learning (ML). These tools can mine vast NGS and multi-omics datasets, uncovering hidden correlations that inform predictive modeling, treatment selection, and resistance mechanisms. AI-enhanced bioinformatics pipelines are expected to improve diagnostic accuracy, reduce turnaround times, and optimize clinical decision-making, making them a critical growth driver for the next generation cancer diagnostics market.
Nevertheless, significant challenges remain. Not all mutations detected are actionable, and many fall into a gray zone with uncertain clinical utility. Ethical considerations around incidental findings, patient consent, and data privacy further complicate adoption. To maximize the potential of NGS and related technologies, standardized guidelines, stronger evidence frameworks, and multidisciplinary collaboration across oncologists, geneticists, bioinformaticians, and ethicists are essential.
Overall, the market is evolving from single-modality genomic profiling to integrated, AI-powered, multi-omics solutions. With advances such as Illumina’s FDA-approved CGP assays, QIAGEN’s hematology-focused companion diagnostics, and GenomOncology’s workflow automation partnerships, alongside the broader adoption of liquid biopsy and immuno-oncology biomarkers, the sector is positioned for substantial growth. However, its long-term trajectory will hinge on demonstrating clear clinical utility, cost-effectiveness, and improved patient outcomes in real-world practice.
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Several tests, including physical examination, laboratory tests, imaging tests, and biopsy, have traditionally been performed in cancer diagnosis. Each step of the usual diagnostic procedure, with the prognosis and therapeutic decision made by oncologists, comes with a well-defined approach to avoid potential complications. This highlights the crucial importance of diagnosis throughout the entire oncology lifecycle, surpassing the therapeutic regimen's significance.
Next-generation sequencing (NGS) has become a transformative force in oncology diagnostics, enabling comprehensive genomic profiling of tumors to match patients with targeted therapies. By identifying actionable mutations and molecular alterations, NGS supports personalized medicine strategies that improve clinical outcomes. However, the impact of sequencing in routine care still requires clearer evidence stratification, as not all patients with actionable mutations ultimately receive targeted therapies. Barriers such as the timing of sequencing within the care pathway, physician interpretation, limited accessibility, and cost-effectiveness continue to restrict broader adoption.
Large-scale initiatives such as the TAPUR Study and the NCI MATCH Study aim to generate robust real-world evidence on the impact of sequencing-driven treatment selection. While CMS’s National Coverage Determination expanded access by approving tests like FoundationOne CDx (F1CDx), the removal of the “coverage with evidence development” requirement has amplified calls for continuous outcome tracking, including metrics such as overall survival, progression-free survival, and response rates. Critics argue that broader panels (such as F1CDx) may add costs without always providing proportional clinical benefit, as illustrated by modest response rates in certain targeted therapy arms of NCI MATCH. This underscores the need for more evidence-based validation of sequencing-guided treatment approaches.
Beyond genomics, the field is rapidly expanding toward multi-omics integration. While DNA provides a static blueprint, complementary approaches such as RNA sequencing (transcriptomics) and proteomics (mass spectrometry) offer dynamic insights into gene expression and protein signaling pathways. Combined with metabolomics, these data layers create a holistic picture of tumor biology. Projects like TCGA have highlighted the promise of integrated-omics, though challenges remain in harmonizing these datasets into clinically actionable outputs.
At the same time, companies are accelerating the clinical deployment of such technologies. In May 2025, Illumina expanded its oncology portfolio with the launch of TruSight Oncology (TSO) Comprehensive, the first FDA-approved distributable CGP IVD kit with pan-cancer CDx claims, which is now reimbursed under Medicare and most commercial plans. The test, covering more than 500 genes, has also gained regulatory approval in Japan and is being integrated into clinical practice across community hospitals and academic centers. Illumina also deepened its partnership with Pillar Biosciences, adding the oncoReveal® CDx panel on the MiSeq Dx System, further democratizing access to in-house tumor profiling. Similarly, in June 2025, QIAGEN and Incyte entered a collaboration to develop a multimodal NGS companion diagnostic for myeloproliferative neoplasms, validated on the Illumina NextSeq 550Dx platform. The test will detect mutCALR mutations, supporting Incyte’s innovative antibody program (INCA033989) for essential thrombocythemia and myelofibrosis. In March 2025, GenomOncology partnered with Chronetyx Laboratories to streamline clinical adoption by integrating its Pathology Workbench software with Chronetyx’s FDA-cleared and CE-IVD-marked Cyx Solid Tumor 505 test, automating tertiary analysis and significantly reducing turnaround times for NGS results. Collectively, these initiatives highlight how leading players are addressing bottlenecks in reimbursement, workflow automation, and biomarker expansion to accelerate precision oncology adoption.
NGS also plays a central role in immuno-oncology diagnostics. Tumor mutational burden (TMB), PD-L1 expression, and neoantigen profiling are increasingly used as biomarkers for response to immune checkpoint inhibitors. Evidence from advanced hepatocellular carcinoma (HCC) shows that TP53 mutations correlate with improved survival, while TERT and BRD4 mutations signal poor prognosis. Exome sequencing combined with proteomics helps identify which neoantigens are presented by the major histocompatibility complex (MHC), guiding personalized immunotherapy strategies.
Emerging diagnostic modalities such as liquid biopsy and single-cell sequencing are further reshaping the market. Liquid biopsy offers a non-invasive method to detect circulating tumor DNA (ctDNA) and monitor treatment resistance in real-time. Meanwhile, single-cell sequencing reveals intratumoral heterogeneity, identifying subclones that may drive resistance or metastasis. Together, these technologies address key limitations of conventional tissue biopsies and are poised to drive faster adoption of precision oncology.
A powerful enabler of these advancements is the integration of artificial intelligence (AI) and machine learning (ML). These tools can mine vast NGS and multi-omics datasets, uncovering hidden correlations that inform predictive modeling, treatment selection, and resistance mechanisms. AI-enhanced bioinformatics pipelines are expected to improve diagnostic accuracy, reduce turnaround times, and optimize clinical decision-making, making them a critical growth driver for the next generation cancer diagnostics market.
Nevertheless, significant challenges remain. Not all mutations detected are actionable, and many fall into a gray zone with uncertain clinical utility. Ethical considerations around incidental findings, patient consent, and data privacy further complicate adoption. To maximize the potential of NGS and related technologies, standardized guidelines, stronger evidence frameworks, and multidisciplinary collaboration across oncologists, geneticists, bioinformaticians, and ethicists are essential.
Overall, the market is evolving from single-modality genomic profiling to integrated, AI-powered, multi-omics solutions. With advances such as Illumina’s FDA-approved CGP assays, QIAGEN’s hematology-focused companion diagnostics, and GenomOncology’s workflow automation partnerships, alongside the broader adoption of liquid biopsy and immuno-oncology biomarkers, the sector is positioned for substantial growth. However, its long-term trajectory will hinge on demonstrating clear clinical utility, cost-effectiveness, and improved patient outcomes in real-world practice.
Global Next Generation Cancer Diagnostics Market Report Segmentation
This report forecasts revenue growth at the global, regional and country levels and provides an analysis of the latest trends in each of the sub-segments from 2021 to 2033. For this study, the analyst has segmented the global next generation cancer diagnostics market report based on technology, application, cancer type, function, and region:Technology Outlook (Revenue, USD Million, 2021-2033)
- Next Generation Sequencing
- qPCR & Multiplexing
- LOAC & RT-PCR
- Protein Microarrays
- DNA Microarrays
Application Outlook (Revenue, USD Million, 2021-2033)
- Biomarker Development
- CTC Analysis
- Proteomic Analysis
- Epigenetic Analysis
- Genetic Analysis
Cancer Type Outlook (Revenue, USD Million, 2021-2033)
- Lung Cancer
- Breast Cancer
- Colorectal Cancer
- Cervical Cancer
- Others
Function Outlook (Revenue, USD Million, 2021-2033)
- Therapeutic Monitoring
- Companion Diagnostics
- Prognostics
- Cancer Screening
- Risk Analysis
Regional Outlook (Revenue, USD Million, 2021-2033)
- North America
- Europe
- Asia Pacific
- Latin America
- Middle East & Africa
Why should you buy this report?
- Comprehensive Market Analysis: Gain detailed insights into the market across major regions and segments.
- Competitive Landscape: Explore the market presence of key players.
- Future Trends: Discover the pivotal trends and drivers shaping the future of the market.
- Actionable Recommendations: Utilize insights to uncover new revenue streams and guide strategic business decisions.
This report addresses:
- Market intelligence to enable effective decision-making
- Market estimates and forecasts from 2018 to 2030
- Growth opportunities and trend analyses
- Segmental and regional revenue forecasts for market assessment
- Competition strategy and market share analysis
- Product innovation listings for you to stay ahead of the curve
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Table of Contents
Chapter 1. Next Generation Cancer Diagnostics Market: Methodology and Scope
Chapter 2. Next Generation Cancer Diagnostics Market: Executive Summary
Chapter 3. Next Generation Cancer Diagnostics Market Variables, Trends, & Scope
Chapter 4. Next Generation Cancer Diagnostics Market: Technology Estimates & Trend Analysis
Chapter 5. Next Generation Cancer Diagnostics Market: Application Estimates & Trend Analysis
Chapter 6. Next Generation Cancer Diagnostics Market: Cancer Type Estimates & Trend Analysis
Chapter 7. Next Generation Cancer Diagnostics Market: Function Estimates & Trend Analysis
Chapter 8. Next Generation Cancer Diagnostics Market: Regional Business Analysis
Chapter 9. Competitive Landscape
List of Tables
List of Figures
Companies Mentioned
The leading players profiled in this Next Generation Cancer Diagnostics market report include:- Janssen Pharmaceuticals, Inc.
- Illumina, Inc.
- Novartis AG
- F. Hoffmann-La Roche Ltd
- Koninklijke Philips N.V.
- QIAGEN
- Agilent Technologies, Inc. (Dako)
- Abbott
- Thermo Fisher Scientific Inc.
- GE HealthCare.
Table Information
| Report Attribute | Details |
|---|---|
| No. of Pages | 138 |
| Published | September 2025 |
| Forecast Period | 2025 - 2033 |
| Estimated Market Value ( USD | $ 17.79 Billion |
| Forecasted Market Value ( USD | $ 41.44 Billion |
| Compound Annual Growth Rate | 11.1% |
| Regions Covered | Global |
| No. of Companies Mentioned | 11 |
