The Next-Generation Sequencing diagnostics market includes clinical genomic tests that use high-throughput sequencing to identify genetic variations underlying disease. Public health agencies and regulators are establishing frameworks to ensure these tools are safe, effective, and integrated into precision medicine initiatives.
Field | Value |
Market Size | |
CAGR | |
Forecast Year | 2031 |
Base Year | 2025 |
The Next-Generation Sequencing (NGS) Diagnostics Market includes the diagnostic tests and platforms that can determine genomic alterations related to disease using high-throughput sequencing technology. NGS can be used for oncology profiles, hereditary genetic disorder diagnosis, infectious pathogen characterization, and screening during pregnancy. Due to NGS's ability to assess many genes at once, it is a key technology for precision diagnostics. Because of the increase in incidence of cancer and hereditary diseases, clinicians are seeing an increase in demand for complete genomic information that informs diagnosis, selects treatment options, and assesses risk of disease. Regulatory agencies, including the U.S. Food and Drug Administration (FDA), are creating guidelines for the oversight of genomic tests and software utilized in the interpretation of results with respect to analytical validity and clinical utility. The World Health Organization (WHO) is working with public health organizations to promote genomic surveillance of infectious disease and the development of antimicrobial resistance.
· More Widespread Oncology Testing: NGS diagnostics are being utilised more widely for thorough tumour profiling. Medical institutions, including hospitals and cancer clinics, are using multiplexed gene-based assays to identify actionable mutations that will drive targeted therapy treatment choices. Through the increased use of NGS testing, the role of genomics in everyday oncology practice has solidified.
· Increasing Hereditary Disease Screening: Clinical laboratories are expanding the use of NGS panels for inherited diseases, including rare genetic diseases. The early identification of pathogenic alleles using NGS is improving preventive strategies and allowing for timely clinical response to patients.
· Integration into Infectious Disease Surveillance: Public health organisations have begun integrating NGS into their pathogen surveillance programs to better track the evolution of viral pathogens and their resistance to antimicrobials. Infectious disease outbreak tracking is now more efficient and thus provides for better-informed public health responses.
· Technological Advances in Bioinformatics and Data Analysis: There is better analytical software and artificial intelligence tools available to process, analyze and interpret NGS-generated genomic data.
· The Burden of Cancer and Genetics: A large portion of the increase in cancer and inherited disease cases worldwide can be attributed to an increase in the number of people requiring genomic information to identify the mutations that influence how fast the disease progresses and how well the treatment works. NGS allows for simultaneous examination of multiple genes, thus allowing for more accurate diagnosis.
· Precision Medicine is Being Introduced: Healthcare systems are transitioning from a one-size-fits-all to biomarker-based treatment approaches for patients with cancer or other inherited diseases. NGS will help make this easier by providing clinicians with the ability to identify actionable variants in genetic material, enabling them to develop personalized treatment plans resulting in optimal outcomes for patients.
· Decreased Costs of Sequencing: The decrease in sequencing costs has led to more people being able to afford sequencing-related expenses. The overall decrease in sequencing costs and increase in speed and accuracy is due to the rapid improvement of technology and the development of more automated sequencing systems. Due to the rapid pace of technological advancement, hospitals, clinical research organizations, and reference laboratories are increasingly using NGS for clinical diagnostics.
· Narrowing Pathogen Mutation and Resistance Patterns with NGS: Governments and public health agencies are establishing significant investments into developing infrastructure for the use of continuing genomic surveillance to track the evolution of pathogens and differentiating between resistant strains and susceptible ones. This generates significant market demand for clinical sequencing platforms and the use of NGS in agriculture.
· The Next Generation Sequencing diagnostics market faces several significant obstacles that hinder market growth, including the need for large capital investments to build genomic sequencing platforms and laboratory infrastructure; bioinformatics, which is the process used to interpret genetic data; evolving regulatory stress and compliance; and inconsistent reimbursement for genetic testing for the various markets. However, there are still many opportunities for growth due to precision oncology increasing demand for comprehensive genomic screening to develop targeted therapy and monitoring of resistance to treatment; expanding application for rare disease testing, genetic screening for inherited traits, and neonatal genetic testing; and the rapid adoption of artificial intelligence for variant interpretation will improve how quickly patients will receive their genomic report.
· February 2026: Illumina unveiled an 18-month innovation roadmap for its NovaSeq X sequencing system, enhancing output up to 35 billion reads, improving accuracy to Q70 quality scores, and increasing speed and workflow flexibility. These updates aim to broaden clinical applications in oncology, rare disease profiling, and high-throughput genomic studies by enabling faster runs and more sensitive detection.
The market is segmented by product type, technology, application and geography.
Reagents & kits account for the majority of total sales due to their usage in each sequencing run and regular need for use, which supports ongoing sales versus one-time sales of instruments.
Targeted sequencing is the leading technology segment since it has significant clinical applications, offers efficient cost-benefit ratios, and provides quicker turnaround times. Targeted sequencing provides targeted analysis of specific gene panels related to cancer, inherited diseases and responses to therapy, making this type of sequencing ideal for use in routine diagnostic settings.
Oncology's primary application segment. The use of genomic profiling for the identification of mutations related to cancer in diagnostics, and the use of genomic profiling for determining the appropriate therapies to be utilised, detection of minimal residual disease and analysis of treatment resistance related to current/multiple therapies, supports the growth of this precision medicine segment and its future growth.
North America remains dominant mostly in terms of advanced healthcare infrastructure, substantial reimbursement infrastructure, and early utilization of genomic medicine. The FDA (U.S. Food and Drug Administration) continues to streamline its pathways for approving NGS-based in vitro diagnostics which will help support clinical confidence in the use of NGS diagnostics. In addition, many of the major cancer centers and reference laboratories in the United States and Canada routinely use NGS-based panels for oncology, inherited disorders, and infectious disease profiling as part of their cancer care programs. Precision medicine initiatives funded by government sources, along with collaborations between academic institutions and biotechnology companies, will further contribute to the growth of this region.
South America is an emerging market led by Brazil and Argentina. Expansion of private diagnostic laboratories and academic research centres is improving access to genomic testing. Government initiatives focused on cancer care modernisation and rare disease management are supporting the gradual adoption of NGS diagnostics across the region.
The European region is exhibiting consistent growth largely as a result of standardised regulatory oversight from the European Commission's In Vitro Diagnostic Directive. Countries like Germany, the United Kingdom and France are integrating genomic testing into their national cancer and rare disease programs. The public health systems in these countries continue to make it easier for hospitals to receive reimbursement for multi-gene panels, thereby enabling broader use of multi-gene panels in clinical practice.
The Middle East is investing in advanced genomic medicine centres, particularly in the United Arab Emirates and Saudi Arabia, where tertiary hospitals are incorporating NGS for oncology and inherited disease diagnostics. In Africa, adoption remains limited but is gradually increasing through public health collaborations and infectious disease surveillance programs.
The Asia Pacific region is experiencing rapid growth due to increased healthcare spending, increased laboratory capacity and expanded awareness of precision medicine. Countries such as China, Japan, South Korea and Australia are working to improve their domestic capabilities in genomic sequencing. The rapid implementation of genomics programs supported by their respective governments and partnerships between their governments and global sequencing technology providers is driving the rapid implementation of NGS diagnostics within oncology and population screening programs across the Asia Pacific region.
· Illumina
· Thermo Fisher Scientific
· Roche Diagnostics
· Agilent Technologies
· QIAGEN
· Bio-Rad Laboratories
· Danaher Corporation
· BGI Genomics
· Oxford Nanopore Technologies
· Pacific Biosciences
The industry is in the process of consolidation as players target the provision of " Next-generation Sequencing (NGS) Diagnostics Market” toolchains.
Roche Diagnostics is a globally recognised leader in molecular diagnostic products, tools, and technologies. Within its product offerings, one can find real-time PCR systems, high-throughput testing solutions, and companion diagnostics used for oncological, infectious diseases, and genetic testing. Its diagnostic technology facilitates laboratory automation and collaboration through integration with laboratory information systems, allowing for optimal workflows and data management. Roche also manufactures multiplex assays to enable the simultaneous detection of various pathogens. Furthermore, Roche's continuous investments in new technologies, including next-generation sequencing and biomarker discovery, are helping to solidify its role in the field of precision medicine. The breadth of Roche's portfolio and its global reach establish it as one of the leading diagnostic companies, helping to make it an essential component of clinical and reference labs.
Thermo Fisher Scientific is a manufacturer and distributor of many types of molecular diagnostic technologies, including PCR technology, next-generation sequencing technology, reagents, and bioinformatics software. Thermo Fisher's Applied Biosystems brand manufactures and sells products that relate to genetic analysis, infectious disease identification, and research purposes. Additionally, Thermo Fisher's platforms provide high-throughput workflows, allowing labs to increase their testing capacity. Thermo Fisher also offers package solutions for integrated service/support to help labs achieve optimal assay performance and compliance. Thermo Fisher is well-known for its strong commitment to research and development in order to support ongoing innovation in molecular testing and laboratory automation, positioning it to be a critical partner for clinical and research labs globally.