Gene Identification Tools Market Size, Share and Trends 2025 to 2034

Gene Identification Tools Market (By Technology / Platform Type: Sequencing Technologies, Gene Expression Arrays, PCR-based Methods, Hybrid Capture & Enrichment Panels; By Application Area: Clinical Diagnostics, Research & Functional Genomics, Agriculture & Animal Genomics, Pharmaceutical / Drug Discovery; By End-User: Academic & Research Institutions, Hospitals & Clinical Laboratories, Biotechnology & Pharmaceutical Companies, Agricultural / Agri-Tech Firms, Contract Research Organizations; By Product / Service Offering: Kits & Reagents, Instruments / Platforms, Software & Analytics, Services; By Gene Type Targeted: Coding Gene, Non-coding RNAs, Regulatory Regions, Whole-Genome / Whole-Transcriptome; By Species / Sample Type: Human / Clinical Samples, Model Organisms, Plant Genomics / Crop Species, Animal Genomics / Livestock;) - Global Industry Analysis, Size, Trends, Leading Companies, Regional Outlook, and Forecast 2025 to 2034

Last Updated : 03 Oct 2025  |  Report Code : 6923  |  Category : Healthcare   |  Format : PDF / PPT / Excel

List of Contents

  • Last Updated : 03 Oct 2025
  • Report Code : 6923
  • Category : Healthcare

What is the Gene Identification Tools Market Size?

The global gene identification tools market is witnessing rapid growth as researchers and clinicians use advanced genomic technologies to identify disease-causing genes and potential therapeutic targets. The increased prevalence of infectious diseases has boosted demand for gene identification tools, driving the global gene identification tools market.

Gene Identification Tools market Size 2025 to 2034

Gene Identification Tools Market Key Takeaways

  • North America dominated the gene identification tools market in 2024.
  • Asia Pacific is expected to grow at the fastest CAGR from 2025 to 2034.
  • By technology/platform type, the sequencing technologies (NGS, sanger, third-generation) segment led the market in 2024.
  • By technology/platform type, the CRISPR/gene editing screening tools segment is expected to grow at the fastest CAGR between 2025 and 2034.
  • By application area, the clinical diagnostics (rare disease, cancer panels) segment captured the biggest market share in 2024.
  • By application area, the agriculture & animal genomics segment is expected to grow at the highest CAGR between 2025 and 2034.
  • By end-user, the academic & research institutions segment held the maximum market share in 2024.
  • By end-user, the biotechnology & pharmaceutical companies segment is expected to grow at a significant CAGR between 2025 and 2034.
  • By product/service offering, the instruments/platforms (sequencers, PCR machines) segment accounted for the significant market share in 2024.
  • By product/service offering, the software & analytics (variant calling, annotation, interpretation) segment is likely to grow at the fastest rate between 2025 and 2034.
  • By gene type targeted, the whole-genome/whole-transcriptome segment led the market in 2024.
  • By gene type targeted, the non-coding RNAs (miRNA, lncRNA) segment is expected to grow at the fastest CAGR between 2025 and 2034.
  • By species/sample type, the human/clinical samples segment generated the major market share in 2024. 
  • By species/sample type, the plant genomics/crop species segment is expected to grow at a notable CAGR between 2025 and 2034.

Key Technological Shift in the Gene Identification Tools Market

The gene identification tools industry has been experiencing rapid success, transitioning from single-gene to whole-gene analysis and from static models to adaptive algorithms. Technological advancements, such as next-generation sequencing (NGS) and long-read sequencing prediction tools, are highly addressing the increased need for personalized medicine and precision oncology. The shift toward integrating cutting-edge technologies like AI and ML is enabling the process and interpretation of massive datasets produced by modern sequencing technologies. The increased use of deep learning models, such as convolutional neural networks (CNNs), for analyzing complex genomic data and detecting patterns with unparalleled performance. Moreover, the advancements in CRISPR-Cas technologies further improve gene editing capabilities.

With advancements in AI diagnostics, rapid genetic testing, and CRISPR therapies, significant breakthroughs in rare disease research were made in May 2025. IORD has released its updated round-up for May, featuring significant developments. This development has highlighted the approach to diagnosing, managing, and understanding rare genetic conditions, utilizing innovative tools at AIIIMS.  (Source: https://www.rarediseases.in)

What are Gene Identification Tools?

The global gene identification tools market is experiencing rapid growth, driven by advancements in genomic technologies, increasing demand for personalized medicine, and the integration of artificial intelligence (AI) and machine learning (ML). Gene identification tools refer to technologies, platforms, assays, and software used to detect, discover, annotate, and validate genes (including coding, non-coding, and regulatory regions), variants, transcripts, and their functions. These tools are essential in genomics research, diagnostics, drug discovery, agricultural genomics, and functional genomics.

Genomic technologies are experiencing sustainable advancements, such as next-generation sequencing (NGS) technologies, driven by the increased demand for personalized medicine and precision oncology treatments. The significant government investments and funding in genomic research and developments are bringing significant innovative approaches to the global market. Research institutions and pharmaceutical and biotechnology industries are highly reliant on gene identification tools for comprehensive drug discovery and biomarker identification, driving demand for advanced and more precise gene identification tools.

Gene Identification Tools Market Outlook

  • Industry Growth Overview: The gene identification tools industry is projected to experience significant growth between 2025 and 2030, driven by the expansion of population-scale genomic programs and a surge in personalized medicine and treatments. North America and the Asia Pacific are growing rapidly on a global scale, particularly due to the strong research infrastructure of North America and Increased government investments in biotechnology and research & development in the Asian countries. 
  • Major Investors: The gene identification tools market is experiencing significant investments from large pharmaceutical companies like Novartis and Eli Lilly. Public and private gene-editing companies are seeking support from major genomics technology companies, such as Thermo Fisher Scientific and Illumina. 
  • Startup Ecosystem: Large organizations are involved in the development of gene identification tools, including sequencing platforms, bioinformatics software, and AI-driven analysis for genomics. Numerous startup companies are investing in development capabilities to meet the increased demands for clinical diagnostics, biomedical research, and therapeutic development. Element Biosciences of the U.S., Nucleome Therapeutics of the UK, and IndyGeneUS AI of the U.S. are the emerging startup companies in the global market.

Market Scope

Report Coverage Details
Dominating Region North America
Fastest Growing Region Asia Pacific
Base Year 2024
Forecast Period 2025 to 2034
Segments Covered Technology / Platform Type, Application Area, End-User, Product / Service Offering, Gene Type Targeted, Species / Sample Type, and Region
Regions Covered North America, Europe, Asia-Pacific, Latin America, and Middle East & Africa

Market Dynamics

Drivers

Demand for Personalized Medicine

The demand for personalized medicine and precision medicine has increased worldwide, driven by growing patient awareness and the rising prevalence of chronic diseases. The growing geriatric population is highly impacted due to rare diseases and chronic diseases, driving the need for personalized medicines and treatments. This demand has driven significant innovations and research in genetic profiles, necessitating the development of sophisticated tools to facilitate rapid and accurate research and trials. The gene identification tools enable the development of targeted therapies and treatments for individual genetic profiles with greater precision and effectiveness.

Restraint

High Cost

The high cost associated with sequencing technologies and gene identification tools is a major restraint on the market growth. These tools need specialized instruments and expertise to handle, which adds to the cost. The high upfront investments in gene identification tools can limit their market accessibility for researchers and clinicians. Resource-constrained settings are the primary factor limiting access to gene identification tools.

Opportunity

Development of Cloud-Based Bioinformatics Solutions

The rising development and adoption of cloud-based bioinformatics solutions create immense opportunities in the gene identification tools market. The increased use of cloud-based software and services in healthcare, driven by rapid digital transformation, is the key factor fueling the shift toward cloud-based bioinformatics solutions. This platform enables highly efficient genomic data analysis with unparalleled accessibility and scalability. The increasing adoption of cloud-based bioinformatics solutions is driving demand for cutting-edge gene identification tools for faster and more accurate results.

Segments Insights

Technology/Platform Type Insights

What Made Sequencing Technologies the Dominant Segment in the Gene Identification Tools Market?

The sequencing technologies (NGS, Sanger, and third-generation) segment dominated the market in 2024 due to their ability to increase throughput and reduce costs. Sequencing technologies, such as Next-generation sequencing (NGS) and third-generation sequencing (TGS), are enabling groundbreaking genomic insights, helping to accelerate gene discovery, precision medicine development, and disease diagnosis. Third-generation sequencing, which enables the development of long, real-time, and direct reads, is used to resolve complex genomic structures and enhance genome assembly.

The CRISPR/gene editing screening tools segment is expected to grow at the fastest CAGR during the projection period, driven by its ability to offer high-throughput methods for functional genomics. The CRISPR/gene editing screening tools enable the rapid and more accurate identification of drug targets and an enhanced understanding of disease mechanisms. The CRISPR / gene editing screening tools have enabled precise gene manipulation, allowing researchers to identify genes associated with drug resistance, accelerate drug discovery, and development.

Application Area Insights

Which Application Area Segment Dominates the Gene Identification Tools Market?

The clinical diagnostics (rare disease, cancer panels) segment dominated the market in 2024, driven by the increased adoption of next-generation sequencing for clinical diagnostics in diseases such as rare diseases and cancer panels. The gene identification tools, which utilize advanced technologies in NGS, increase the adoption of gene panels more than conventional methods. The growing patient awareness of genomic research and government initiatives for precision medicines and personalized medicine are solidifying the adoption of gene identification tools for clinical diagnostics.

The agriculture & animal genomics segment is expected to grow at the fastest rate over the forecast period, driven by increased adoption of advanced tools to improve crop yield, quality, and animal health. The agriculture & animal genomics sector has experienced increased demand for efficient and accurate identification of gene-related research and trials. The disease resistance, yield, and productivity of animals, as well as the development of sustainable farming practices, are driving demand for precise gene research and clinical trials

End-user Insights

Why Did Academic & Research Institutions Hold the Largest Market Share?

In 2024, the academic & research institutions segment held the largest share of the gene identification tools market. This is mainly due to increased innovation and development activities led by these institutions. Academic & research institutions are prior adopters of gene identification tools for high-impact research and innovations. This increased adoption is leading to the development of ethical, user-friendly, and accurate tools for gene identification.

The biotechnology & pharmaceutical companies segment is expected to grow at a significant rate over the forecast period, driven by the increased adoption of gene identification tools in research and development, as well as the expansion of product pipelines. The biotechnology & pharmaceutical companies are investing heavily in research and development to meet the emerging demand of personalized medicines and targeted therapies. Cell validation, cell line engineering, and screening are the major research driving needs for gene identification tools in the biotechnology & pharmaceutical companies. 

Product/Service Offering Insights

How Does the Instruments/Platforms Segment dominate the Gene Identification Tools Market in 2024?

The instruments/platforms (sequencers, PCR machines) segment dominated the market in 2024 due to its ability to provide sophisticated genomic analysis. Instruments and platforms, such as sequencers and PCR machines, provide high-throughput and rapid genetic analysis capabilities, supporting cancer research, disease diagnostics, and the development of personalized medicines. Advancements in instruments/platforms, such as next-generation sequencing (NGS) and third-generation sequencing (TGS), are helping research institutions and pharmaceutical companies reduce costs and enhance efficiency.

The software & analytics (variant calling, annotation, interpretation) segment is expected to grow at the fastest CAGR over the projection period, driven by the increased need for accuracy and sensitivity. The software & analytics, such as variant calling, annotation, and interpretation, enable the transformation of raw sequencing data into clinically actionable information. The ability of software & analytics to enhance accuracy, automate complex tasks, and identify pathogenic variants makes them ideal for diagnosing rare diseases, accelerating research, and personalized medicine.

Gene Type Targeted Insights

Which Gene Type Targeted Segment Dominates the Gene Identification Tools Market?

The whole-genome/whole-transcriptome segment dominated the market in 2024 due to the ability of gene identification tools to enhance diagnostic accuracy. Whole-genome and whole-transcriptome gene research is gaining traction for the development of comprehensive, personalized medicines, new biomarker discovery, and high-resolution genetic data for cutting-edge diagnostics. The increased use of whole-genome / whole-transcriptome sequencing in oncology and infectious disease research is driving the adoption of sophisticated gene identification tools. 

The non-coding RNAs (miRNA, lncRNA) segment is likely to grow at the highest CAGR in the coming years due to regulation of gene expression at both transcriptional and post-transcriptional levels. The non-coding RNAs, including miRNA and IncRNA, enable gene regulation and identify the reason for disease development. These genes can identify diagnostic biomarkers and therapeutic targets. The growing need for the development of targeted therapies and their use for diagnosing and treating various chronic diseases is driving the adoption of gene identification tools for non-coding RNAs. 

Species/Sample Type Insights

Why Did the Human/Clinical Samples Segment Lead the Gene Identification Tools Market?

The human/clinical samples segment led the market in 2024 due to increased demand for gene identification tools in bioinformatics and data analytics applications. The advancements in gene identification tools enable high accuracy in disease diagnosis, personalized medicine developments, and pharmacogenomics. The increasing need for advanced technologies and tools to identify and discover biomarkers in human and clinical samples is driving demand for gene identification tools. 

The plant genomics/crop species segment is expected to grow at the fastest rate in the upcoming period. This is primarily due to the growing demand for advanced tools in plant genomics/crop species gene identification. The need for throughput sequencing, bioinformatics, and precision phenotyping tools has increased to accelerate crop improvements. Gene editing enables the development of high-yielding crops that enhance climate resilience, improve their nutritional value, and increase yield quality. The increased use of genome editing, especially CRISPR/Cas9 in plant genomics/crop species, is solidifying the need for advanced gene identification tools. 

Regional Insights

North America Gene Identification Tools Market Trends

North America dominated the global gene identification tools market by capturing the largest share in 2024. This is due to the region’s well-established healthcare infrastructure, research & development institutions, and strong investments in R&D. The biopharmaceutical and pharmaceutical companies in North America have been investing heavily in novel genomic research and developments. With the high prevalence of chronic disease and increased demand for personalized treatments and precision medicines, the need for sustainable genomics research has increased in the country. North America has developed more than 1000 novel genetic tools for brain disease research. Additionally, the government support through Innovation, Science and Economic Development Canada (ISED) and Genomics R&D Initiatives (GRDI) is enabling the development of new technologies and tools. 

The U.S. is a major contributor to the market due to its strong focus on innovation and the development of gene editing tools, such as CRISPR, and a high demand for gene therapies. U.S. companies are focusing on integrated technologies, such as AI, for genetic data analysis. The strong focus on developing new technologies to address the rapidly growing prevalence of diseases, enhance diagnostics, and expand gene therapy capabilities is fostering this growth.

  • In March 2025, Yale scientists developed a comprehensive CRISPR-based mouse model for simultaneously assessing genetic interactions in immunology and responses to various diseases. The CRISPR-Cas 12a system tools enable tracking changes in diverse immune system responses to disease. (Source: https://www.linkedin.com)

Asia Pacific Gene Identification Tools Market Trends

Asia Pacific is the fastest-growing region in the global market, driven by increased government investments in national genomics programs and decreasing sequencing costs. The demand for precision medicine and personalized treatments has increased due to the increased prevalence of chronic disease and the geriatric population. With insufficient traction and proliferation of genomics startups and private testing services, the innovations and developments of the gene identification tools industry are expanding in Asia. Countries such as China, India, Japan, and Singapore are major economies in Asia, driving the development of gene identification tools and localizing genomic databases to enhance clinical relevance for the regional population.

Country-Level Investments and Funding Trends for Gene Identification Tools Industry

  • U.S.:  The U.S. government is providing funding for health science research via the National Institutes of Health (NIH) organizations. In 2012, 66.81% trials were undertaken by the U.S. 
  • Canada: Genome Canada investments secured in April 2023 are enabling innovations and advancements of advanced R&D in health, agricultural resilience, and environmental sustainability. This investment marked the 100th project funded through Genome Canada’s Genome Applications Partnership Program, highlighting its commitment to investing in late-stage research and development projects.  (Source: https://genomecanada.ca)
  • Germany: Lucid Genomics, the Berlin-based start-up, raised €1.3 million in pre-seed funding in a funding round organized by Caesar Ventures. This funding round received support from BIF Partners, the MPF Accelerator, and Another VC. (Source: https://www.mpg.de)
  • China: China has become the hub for more than 544 Genomic startups, which include Sino Biological, BGI, Novogene Corporation, Insilico, and Burning Rock. The Chinese government has secured funds for 318 startups, with 167 having secured Series A+ funding, and one achieving unicorn status. China has been launching an average of 22 novel companies annually for over a decade. (Source: https://tracxn.com)
  • India: The Indian government supports research and development in genomics through the National Biopharma Mission, a novel initiative of the Anusandhan National Research Foundation with a corpus of Rs 1 lakh crore for emerging technologies, and the Biotechnology Industry Research Assistance Council (BIRAC).

Gene Identification Tools Market – Value Chain Analysis

  • Clinical Trials and Regulatory Approvals

According to the FDA pathway established in 2018 for test developers to use publicly accessible databases of human genetic variants supporting he clinical validation and recognition. Test developments are allowed to use data as valid scientific evidence for strengthening their regulatory submission if the data meet specific FDA standards.

Key Players: Thermo Fisher Scientific, Bluebird Bio, Kite Pharma, and Novartis Gene Therapies

  • Packaging and Serialization

Gene identification tools need to be integrated, safe, and ensure regulatory compliance via the supply chain. The U.S. Food and Drug Administration (FDA) has mandated a UDI (unique device identifier) for many medical devices.

Key Players: OPTEL Group, SEA Vision, Advanco, and Systech International

  • Distribution to Hospitals, Pharmacies

At this stage, manufacturers or suppliers collaborate with specialized distributors or work directly with healthcare institutions to ensure the timely and secure delivery of gene identification products. Hospitals and diagnostic labs use these tools for clinical and research applications, while pharmacies may distribute consumer-oriented genetic testing kits. Efficient distribution is crucial for maintaining product quality (e.g., temperature-sensitive reagents), ensuring regulatory compliance, and facilitating the widespread adoption of gene identification technologies in both clinical and commercial settings.

Key Players: Illumina, Quest Diagnostics, Thermo Fisher Scientific, and BD (Becton, Dickinson & Company)

Gene Identification Tools Market Companies

Tier I (Combined Contribution: ~50–55%)

These companies are the dominant players in the global gene identification tools market, each contributing a significant share individually.

  • Thermo Fisher Scientific
  • Illumina
  • Genomatix (a subsidiary of Intrexon)

These top three companies together account for approximately half of the total market share.

Tier II (Combined Contribution: ~25–30%)

These companies have substantial presence but are not as dominant as Tier I players. Each typically holds a moderate share in the market.

  • Qiagen
  • BGI Genomics
  • Roche
  • Geneious
  • SoftGenetics

Tier III (Combined Contribution: ~15–25%)

These are smaller or more specialized players with niche offerings. While their individual contributions are relatively small, their collective presence is notable.

  • GenScript
  • DNASTAR
  • Softberry Technologies
  • AzoLifeScience
  • Exiqon
  • Other emerging or regional companies

Recent Developments

  • In July 2025, Salk Institute research introduced a new AI tool, ShortStop, which illuminated the dark side of the human genome. This tool utilizes a comprehensive machine learning framework to explore previously overlooked DNA regions in the research of microproteins.
    (Source: https://www.salk.edu)
  • In April 2025, a new gene editing tool, STITCHR, was developed by Scientists from Mass General Brigham and Beta Israel Deaconess Medical Center. These tools help to simplify utilization and provide potential as a one-time treatment for genetic disorders. (Source: https://www.isaaa.org)

Segment Covered in the Report

By Technology / Platform Type

  • Sequencing Technologies (NGS, Sanger, Third-Generation) 
  • Microarrays / Gene Expression Arrays 
  • PCR-based Methods (qPCR, ddPCR, RT-PCR) 
  • Hybrid Capture & Enrichment Panels 
  • CRISPR / Gene Editing Screening Tools 
  • Bioinformatics / Software Tools (gene prediction, annotation, variant calling) 

By Application Area

  • Clinical Diagnostics (rare disease, cancer panels) 
  • Research & Functional Genomics 
  • Agriculture & Animal Genomics 
  • Pharmaceutical / Drug Discovery 
  • Forensics & Ancestry 

By End-User

  • Academic & Research Institutions
  • Hospitals & Clinical Laboratories
  • Biotechnology & Pharmaceutical Companies
  • Agricultural / Agri-Tech Firms
  • Contract Research Organizations (CROs)

By Product / Service Offering

  • Kits & Reagents (library prep, probes, prmers)
  • Instruments / Platforms (sequencers, PCR machines)
  • Software & Analytics (variant calling, annotation, interpreation)
  • Services (gene discovery, sequencing services, custom panels) 

By Gene Type Targeted

  • Coding Genes / Exons
  • Non-coding RNAs (miRNA, lncRNA)
  • Regulatory Regions (promoters, enhancers)
  • Whole-Genome / Whole-Transcriptome

By Species / Sample Type

  • Human / Clinical Samples
  • Model Organisms (mouse, fly, zebrafish)
  • Plant Genomics / Crop Species
  • Animal Genomics / Livestock
  • Environmental / Metagenomics Samples

By Region

  • North America
  • Europe
  • Asia-Pacific
  • Latin America
  • Middle East & Africa

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Frequently Asked Questions

The major players in the gene identification tools market include Qiagen, BGI Genomics, Roche, Geneious, SoftGenetics, Thermo Fisher Scientific, Illumina, Genomatix (a subsidiary of Intrexon), GenScript, DNASTAR, Softberry Technologies, AzoLifeScience, and Exiqon.

The driving factors of the gene identification tools market are the increased prevalence of infectious diseases has boosted demand for gene identification tools, driving the global gene identification tools market.

North America region will lead the global gene identification tools market during the forecast period 2025 to 2034.

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