Next Generation Sequencing (NGS) Informatics Market - Global Industry Size, Share, Trends, Competition, Opportunity, and Forecast, Segmented By Products & Services (Storage and Computing Tools, Commercial Data Analysis, Data Interpretation, and Reporting Tools, Next Generation Sequencing (NGS) Laboratory Information Management Systems (LIMS), By Application (Drug Discovery, Genetic Screening, Disease Diagnosis, and Others), By End User (Hospitals and Diagnostic Centers, Pharmaceutical and Biotechnology Companies, Academic and Research Institutions), By Region & Competition, 2020-2030F

Market Overview

Global Next Generation Sequencing (NGS) Informatics Market was valued at USD 5.48 billion in 2024 and is expected to reach USD 18.74 billion by 2030 with a CAGR of 22.74% during the forecast period. The global market for Next Generation Sequencing (NGS) Informatics is experiencing significant growth, driven by the growing prevalence of cancer and increase in clinical applications for Next Generation Sequencing (NGS). According to the Global Cancer Observatory, in 2020, around 19,292,789 new cancer cases were reported worldwide. Breast Cancer, Lung Cancer, Colorectum Cancer, Prostate Cancer and Stomach Cancer were the most prevalent types of cancer cases reported in 2020. Additionally, increase in number of samples for DNA sequencing, reduced cost of DNA sequencing with the use of Next Generation Sequencing (NGS) informatics, various government initiatives, rising clinical applications, substitution of Microarray technology by Next Generation Sequencing (NGS) are other factors contributing to market growth.

Key Market Drivers

Rising Adoption of Precision Medicine and Genomic-Based Diagnostics

One of the major driving forces in the Global NGS Informatics Market is the increasing integration of precision medicine and genomic-based diagnostics in clinical practice. Precision medicine relies heavily on genetic and genomic information to tailor treatment plans for individual patients. NGS technologies play a vital role in enabling this personalization by allowing researchers and clinicians to analyze the complete genetic profile of individuals, thereby identifying disease-causing mutations and variants.

The surge in government-led initiatives is a clear reflection of this trend. For example, the United States' National Institutes of Health (NIH) launched the All of Us Research Program, aiming to gather genetic data from over one million Americans to enhance precision medicine. As of 2023, the program had already enrolled over 600,000 participants, with tens of thousands having their genomes sequenced. The availability of such vast datasets increases the need for robust, scalable informatics platforms capable of storing, processing, and interpreting high-throughput sequencing data efficiently.

Moreover, genomic testing is being increasingly reimbursed by healthcare systems across developed economies, which is pushing clinical laboratories and hospitals to adopt NGS technologies more widely. According to the U.S. Centers for Medicare & Medicaid Services (CMS), spending on genetic tests, particularly those involving NGS, has grown significantly, reflecting the technology's clinical relevance. This rise in demand for personalized healthcare solutions directly fuels the need for sophisticated NGS informatics tools that can manage large-scale genomic data, automate variant calling, and support clinical decision-making through artificial intelligence and machine learning integration.

Expanding Application of NGS in Infectious Disease Surveillance and Public Health

The global NGS informatics market is also being propelled by the expanding role of sequencing in infectious disease surveillance and public health initiatives. The COVID-19 pandemic demonstrated the critical importance of real-time genomic sequencing in tracking virus variants, understanding transmission dynamics, and guiding public health responses. As a result, many governments have invested heavily in establishing sequencing and informatics infrastructures. In 2022, the World Health Organization (WHO) launched the Global Genomic Surveillance Strategy for Pathogens with Pandemic and Epidemic Potential, aiming to strengthen genomic sequencing capacity worldwide by 2032. This initiative is designed to enable nations to develop sequencing platforms, data-sharing protocols, and informatics tools for analyzing pathogen genomes. Similarly, the European Centre for Disease Prevention and Control (ECDC) supported the development of the EU COVID-19 Genomic Surveillance Network, integrating NGS tools with epidemiological data to inform public policy.

The U.S. Centers for Disease Control and Prevention (CDC) also expanded its SPHERES (Sequencing for Public Health Emergency Response, Epidemiology, and Surveillance) program, which coordinates over 160 institutions to monitor SARS-CoV-2 variants using NGS technology. The increase in pathogen sequencing naturally demands scalable, interoperable informatics solutions capable of handling data from multiple sources and enabling global collaboration.

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Key Market Challenges

Data Storage, Security, and Compliance

A significant challenge in the NGS informatics market lies in managing and securing the massive volumes of data generated during sequencing runs. A single human genome sequencing can generate up to 200 GB of raw data, and when performed at scale, especially in clinical or public health settings, the data storage requirements become immense. This poses logistical, financial, and regulatory hurdles for institutions and service providers.

Moreover, the secure storage and sharing of genomic data require compliance with stringent data protection laws. In the United States, genomic data falls under the Health Insurance Portability and Accountability Act (HIPAA), which mandates strict data privacy and security rules. Similarly, the General Data Protection Regulation (GDPR) in the European Union imposes substantial penalties for non-compliance with data handling and processing regulations. Maintaining data integrity while enabling real-time access for clinicians and researchers, especially across borders, adds another layer of complexity. Encryption, anonymization, and audit trails are essential but increase infrastructure and operational costs.

Government bodies like the U.S. Department of Health and Human Services (HHS) and the National Institute of Standards and Technology (NIST) have developed frameworks and guidelines for secure genomic data handling, but adoption varies widely by region and institution. The inability to harmonize data standards and security protocols globally hampers large-scale adoption of cloud-based NGS informatics platforms and limits cross-border collaboration.

Limited Availability of Skilled Bioinformatics Professionals

Another pressing challenge confronting the global NGS informatics market is the shortage of skilled professionals capable of managing and interpreting complex genomic data. Despite advancements in automation, NGS informatics still requires expertise in bioinformatics, computational biology, and data science for the development, customization, and maintenance of analysis pipelines. According to a 2023 report by the U.S. Bureau of Labor Statistics (BLS), employment of bioinformaticians and data scientists in healthcare is projected to grow by 35% from 2022 to 2032 much faster than the average for all occupations. However, demand significantly outpaces supply, especially in developing countries where advanced genomics education and infrastructure remain underdeveloped.

The shortage extends to clinical genomics as well, where professionals are required to interpret sequencing results for actionable medical decisions. The Genomics Education Programme (GEP) in the UK has highlighted the critical need for clinical bioinformaticians within the National Health Service (NHS), warning that a lack of trained professionals could hinder the full integration of genomics into routine patient care. Efforts such as the Global Genomics Initiative and investments in training programs by the National Human Genome Research Institute (NHGRI) aim to bridge this gap, but the shortfall in skilled talent remains a bottleneck for the market. Without a consistent global workforce pipeline, the scalability and efficiency of NGS informatics solutions will continue to face limitations.

Key Market Trends

Integration of Artificial Intelligence and Machine Learning in NGS Informatics

A transformative trend in the NGS informatics space is the integration of artificial intelligence (AI) and machine learning (ML) algorithms for data analysis, pattern recognition, and predictive modeling. These technologies enhance the speed, accuracy, and efficiency of genomic data interpretation, especially when processing complex variants, structural rearrangements, or polygenic risk scores.

AI and ML models are now being embedded in variant calling, annotation, and clinical interpretation pipelines. For instance, deep learning frameworks such as DeepVariant and Google's DeepMind AlphaFold are being adapted to improve genomic interpretation in cancer and rare disease diagnostics. These tools reduce false positives, accelerate diagnosis timelines, and enhance the clinical utility of sequencing data. Governments are also endorsing AI in genomics. In the U.S., the National Artificial Intelligence Initiative Act of 2020 emphasizes the development of AI tools for biomedical research, including genomics. Similarly, the EU’s Horizon Europe research program has allocated substantial funding for AI-driven precision medicine initiatives, encouraging collaborative development across member states.

Moreover, integration with electronic health records (EHRs) allows AI models to provide context-aware interpretations of genomic results, aiding clinicians in making evidence-based treatment decisions. As AI models become more refined and validated, they are expected to become integral components of commercial NGS informatics platforms.

Cloud-Based Informatics Platforms for Scalable Genomic Data Analysis

The shift toward cloud-based informatics solutions is another prominent trend driving the evolution of the NGS informatics market. Cloud computing offers scalability, cost-efficiency, and remote accessibility, addressing many of the challenges associated with on-premises data storage and analysis systems. These platforms enable real-time collaboration among researchers, clinicians, and bioinformaticians across institutions and geographical boundaries.

Governments and public health organizations are actively supporting the transition to cloud-based genomics. The National Institutes of Health (NIH) in the U.S. launched the STRIDES Initiative (Science and Technology Research Infrastructure for Discovery, Experimentation, and Sustainability), partnering with major cloud service providers to facilitate large-scale biomedical data sharing and analysis. Furthermore, the UK Biobank, which has genomic data from over 500,000 participants, uses cloud-based architecture to allow researchers worldwide to perform secure analytics without the need to download sensitive datasets.

As sequencing becomes more integrated into clinical care, the ability of cloud platforms to handle regulatory-compliant data management—while supporting automated pipelines, visualization tools, and machine learning integrations—makes them highly attractive to both research and clinical stakeholders.

Segmental Insights

Products & Services Insights

Based on Products & Services, Commercial Data Analysis dominates the market due to their critical role in converting complex raw sequencing data into clinically actionable insights. These tools enable genomic researchers and clinicians to quickly analyze large-scale NGS data, identify genetic variants, and generate reports that guide personalized medicine decisions, particularly in oncology, rare genetic disorders, and infectious diseases. The high utility of these tools across multiple NGS applications, including clinical diagnostics, translational research, and drug discovery, contributes significantly to their leading market share. Commercial solutions are often equipped with built-in compliance for regulatory standards like HIPAA, CLIA, and CAP, which is particularly important in clinical settings. Their wide adoption is further supported by compatibility with leading sequencing platforms such as Illumina, Thermo Fisher, and Oxford Nanopore Technologies. Additionally, the availability of plug-and-play bioinformatics platforms, with integrated artificial intelligence (AI) and machine learning (ML) functionalities, has made these tools more accessible and user-friendly, even for non-bioinformatics experts.

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Regional Insights

Based on the region, North America held the largest market share in the Global Next Generation Sequencing (NGS) Informatics Market. This dominance is primarily driven by a combination of robust healthcare infrastructure, widespread adoption of advanced genomic technologies, and significant investment in research and development. In the United States and Canada, there is a strong presence of leading genomic research institutions and biotechnology companies that have accelerated the adoption of NGS informatics platforms across clinical and research settings.

Government funding initiatives and national genomic programs also support the expansion of NGS technologies. For instance, the National Institutes of Health (NIH) in the U.S. allocates billions of dollars annually to genomic and precision medicine research. In fiscal year 2022, the NIH budget for genomics research exceeded USD 3.1 billion, a portion of which is directed toward improving computational tools and informatics platforms to analyze sequencing data. Moreover, initiatives like the All of Us Research Program and the Cancer Moonshot Initiative continue to generate vast amounts of genomic data, necessitating advanced informatics systems to handle, interpret, and store the data securely.

Recent Developments

• In April 2023, NGeneBio entered into a strategic business agreement with the South Korean subsidiary of Agilent Technologies, Inc., aiming to broaden the scope of NGS-based precision diagnostics both within South Korea and internationally.
• In March 2023, Sophia Genetics announced a collaboration with Agilent Technologies Inc. to integrate its Sophia DDM Platform with Agilent’s research-use-only SureSelect Cancer Comprehensive Genomic Profiling (CGP) assay kit, enhancing capabilities in cancer diagnostics.
• In March 2023, Thermo Fisher Scientific Inc. partnered with Pfizer to improve global access to NGS-based testing for lung and breast cancers, with plans to expand availability across more than 30 countries.
• In January 2023, Qiagen N.V. finalized its acquisition of Verogen, Inc., with the objective of advancing next-generation biometrics in both forensic applications and molecular diagnostic testing.

Key Market Players

• Abbott Laboratories
• F. Hoffmann-La Roche Ltd.
• PerkinElmer, Inc.
• SOPHiA GENETICS SA
• Precigen, Inc.
• QIAGEN N.V.
• Illumina, Inc.
• Agilent Technologies, Inc.
• Eagle Genomics Limited
• BGI Genomics Co., Ltd.

Report Scope:

In this report, the Global Next Generation Sequencing (NGS) Informatics Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Next Generation Sequencing (NGS) Informatics Market, By Product & Services:

o   Storage and Computing Tools

o   Commercial Data Analysis

o   Data Interpretation and Reporting Tools

o   Next Generation Sequencing (NGS) Informatics Services

o   Laboratory Information Management Systems (LIMS)

• Next Generation Sequencing (NGS) Informatics Market, By Application:

o   Drug Discovery

o   Genetic Screening

o   Disease Diagnosis

o   Others

• Next Generation Sequencing (NGS) Informatics Market, By End User:

o   Hospitals and Diagnostic Centers

o   Pharmaceutical and Biotechnology Companies

o   Academic and Research Institutions

• Next Generation Sequencing (NGS) Informatics Market, By Region:

o   North America

§  United States

§  Mexico

§  Canada

o   Europe

§  France

§  Germany

§  United Kingdom

§  Italy

§  Spain

o   Asia-Pacific

§  China

§  India

§  South Korea

§  Japan

§  Australia

o   South America

§  Brazil

§  Argentina

§  Colombia

o   Middle East and Africa

§  South Africa

§  Saudi Arabia

§  UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies presents in the Global Next Generation Sequencing (NGS) Informatics Market.

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Company Information

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