Introduction

Genomics-based healthcare is reshaping the global medical landscape by enabling more accurate, predictive, and personalized approaches to disease prevention, diagnosis, and treatment. Powered by advances in genomic sequencing, molecular diagnostics, and bioinformatics, this sector is transforming how complex diseases are understood and managed. Its applications span oncology, rare genetic disorders, infectious diseases, reproductive health, and pharmacogenomics—delivering unprecedented insights into individual health profiles.

The global genomics-based healthcare market is expanding rapidly, with its value expected to reach USD 68.2 billion by 2030. In 2024, the market was valued at approximately USD 42.6 billion and is forecast to grow at a CAGR of 16.4%. Key growth factors include rising demand for personalized medicine, technological breakthroughs in sequencing and analytics, increased investment in genomic research, and greater awareness of genetic testing across both clinical and consumer markets. As healthcare systems worldwide accelerate the shift toward precision medicine, genomics is emerging as a vital pillar of next-generation care delivery.

Market Dynamics

The genomics-based healthcare market is gaining significant traction, driven by technological breakthroughs and the escalating demand for precision medicine. Falling sequencing costs, growing clinical utility of genomic diagnostics, and expanding investment in personalized therapeutics are key forces propelling market growth. Genomics is fundamentally changing healthcare by facilitating early disease detection, uncovering genetic risk factors, guiding targeted therapies, and improving trial stratification, leading to better outcomes and reduced treatment inefficiencies.

Opportunities are expanding across oncology, reproductive health, rare diseases, and pharmacogenomics. Next-generation sequencing (NGS) adoption is surging, while advances in CRISPR and integration of genomic data into electronic health records (EHRs) are fueling innovation. Genomics is also transforming drug development through biomarker discovery, tailored clinical trial design, and accelerated timelines. Leading players like Illumina and Thermo Fisher Scientific are shaping the landscape with end-to-end platforms spanning sequencing, analytics, and clinical interpretation. Meanwhile, emerging fields like preventive genomics and population health are broadening market scope through personalized risk assessments.

Key trends influencing the market include the rise of direct-to-consumer genetic testing, deeper collaboration between healthcare providers and genomics firms, and the deployment of AI-powered tools for large-scale data interpretation. Companies such as DNAnexus and Fabric Genomics are pioneering scalable cloud-based platforms that streamline genomic data integration into clinical workflows. At the same time, regulatory and ethical considerations around data privacy, consent, and equitable access are coming into sharper focus. As the global healthcare ecosystem moves toward data-driven, value-based care, genomics-based healthcare is poised to become central to clinical innovation and personalized patient management.

Segment Highlights and Performance Overview

By Offering:
Products lead the segment with 45% to 50% market share, driven by the ongoing demand for reagents, kits, and supplies across every stage of genomic analysis, from DNA extraction to sequencing and validation.

By Testing Type:

The global genomics-based healthcare market in 2024 is led by Diagnostic Testing, which captures the largest market share, estimated at around 38–40% of the overall testing type segment. This dominance is driven by widespread clinical adoption of genomic assays for diagnosing genetic disorders, inherited diseases, and cancer, underpinning their crucial role in patient care

By Technology
Next-Generation Sequencing (NGS) dominates with an estimated 55% of the market. Its unmatched scalability, cost efficiency, and clinical versatility make it the backbone of genomic research and diagnostics, particularly in oncology, infectious diseases, and rare conditions.

By Application
Diagnostics account for around 45% of the total market. Genomics-based diagnostics are redefining patient care by supporting earlier and more precise identification of diseases, aided by greater accessibility and affordability of genetic testing.

By End-Users
Pharmaceutical and biotechnology companies lead this segment with approximately 40% share. Their heavy use of genomic tools in drug development, pharmacogenomics, and personalized therapies underscores their central role in driving market expansion.

Geographical Analysis

The Genomics-Based Healthcare Market spans North America, Europe, Asia-Pacific, South & Central America, and the Middle East & Africa.

North America holds the largest market share, accounting for 43.2% in 2024. The region benefits from advanced healthcare systems, high uptake of NGS technologies, and strong presence of major pharmaceutical, biotech, and research entities. Integration of genomics into routine clinical care, demand for personalized therapies, and significant R&D investment reinforce North America’s leadership.

Europe ranks as the second-largest market, contributing 25% to 30%. Robust public healthcare infrastructure, increasing governmental support for genomic research, and a rising focus on precision medicine are key growth enablers. Countries like the UK, Germany, and France lead regional adoption through strong cross-sector collaboration and strategic genomic initiatives.

Competition Landscape

The competitive landscape is shaped by leading genomics innovators, biotech companies, pharmaceutical giants, and agile startups. These players are driving market leadership through continuous R&D, service diversification, and strategic alliances.

Key players featured in this report include Illumina, Inc., Thermo Fisher Scientific Inc., Pacific Biosciences of California, Inc., BGI Genomics, Qiagen N.V., DNAnexus, Fabric Genomics, Seven Bridges Genomics, Partek Inc., and Roche Holding AG.

Key Developments

• March 2025: The Alliance for Genomic Discovery—co-led by Illumina—completed the sequencing of 250,000 whole genomes, creating one of the largest clinical genomic datasets to support drug discovery. This achievement accelerates biomarker identification, patient stratification, and cross-sector genomic collaboration.
• May 2024: Qiagen N.V. launched the QIAseq Multimodal DNA/RNA Library Kit, allowing streamlined preparation of both DNA and RNA libraries from a single sample. This advancement enhances multi-omic research capabilities and strengthens the foundation for precision medicine.

Segmentation:

By Offering:

• Products

• • • Instruments
    • Reagents & Consumables
    • Genomic Panels & Kits

• Software & Platform

• • • Genomic Data Analysis Tools
    • Cloud-based Genomic Platforms
    • AI-Powered Genomics Tools

• Services

• • Genomic Data Sequencing Services
  • Bioinformatics & Data Interpretation
  • Clinical Genomics Services

By Testing Type:

• Predictive Testing
• Diagnostic Testing
• Carrier Testing
• Whole Genome & Exome Testing
• Others

By Technology:

• Next-Generation Sequencing (NGS)
• Polymerase Chain Reaction (PCR)
• Microarray
• CRISPR and Gene Editing
• Sanger Sequencing
• Others

By Application:

• Diagnostics
• Drug Discovery & Development
• Personalized Medicine
• Reproductive Health
• Others 

By End-User:

• Hospitals and Clinics
• Pharmaceutical and Biotech Companies
• Academic and Research Institutes
• Diagnostic Laboratories
• Contract Research Organizations
• Others

Companies included in the report:

• Illumina, Inc.
• Thermo Fisher Scientific Inc. 
• Pacific Biosciences of California, Inc. 
• BGI Genomics 
• Qiagen N.V.
• DNAnexus
• Fabric Genomics
• Seven Bridges Genomics
• Partek Inc.
• Roche Holding AG