Precision Genomic Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Technology (Next-Generation Sequencing, Polymerase Chain Reaction, Microarray Technology, Sanger Sequencing, CRISPR/Cas Systems, Others), By Product & Services (Consumables (Kits & Reagents), Equipment, Services), By Application (Oncology, Cardiovascular Diseases, Neurological Disorders, Reproductive Health, Rare Diseases, Others), By End-Use (Hospitals and Clinics, Diagnostic Laboratories, Research & Academic Institutes, Others), By Region and Competition, 2020-2030F

Market Overview

Global Precision Genomic Testing Market was valued at USD 15.51 Billion in 2024 and is expected to reach USD 20.98 Billion by 2030 with a CAGR of 5.12% during the forecast period. The Global Precision Genomic Testing Market is undergoing rapid expansion, driven by advancements in genomic sequencing technologies, increased adoption of personalized medicine, and a growing prevalence of genetic disorders and cancers. Precision genomic testing involves analyzing an individual's DNA to provide insights into disease predisposition, guide treatment decisions, and tailor medical interventions based on genetic profiles. As healthcare systems worldwide shift toward precision medicine, genomic testing is becoming a cornerstone of modern diagnostics and therapeutics.

The evolution of next-generation sequencing (NGS) has significantly lowered the cost and improved the efficiency of genomic testing. NGS enables rapid sequencing of entire genomes, exomes, or targeted gene panels, allowing for comprehensive genetic analysis. This has made genomic testing more accessible and practical for clinical applications, such as cancer diagnostics, hereditary disease screening, and pharmacogenomics. Additionally, the development of third-generation sequencing (TGS) technologies, such as Oxford Nanopore and PacBio’s SMRT sequencing, is further enhancing the accuracy and efficiency of DNA analysis.

Personalized medicine aims to provide tailored treatment strategies based on an individual's genetic makeup, leading to improved therapeutic outcomes and reduced adverse effects. Genomic testing plays a critical role in this approach by identifying mutations that can influence drug response. In oncology, for example, precision genomic testing helps in identifying biomarkers such as EGFR, BRCA1/2, KRAS, and ALK, which guide the selection of targeted therapies. Pharmaceutical companies are increasingly investing in companion diagnostics, which pair genomic testing with specific drug treatments, further boosting market growth.

Key Market Drivers

Rising Prevalence of Genetic Disorders and Cancer

The global precision genomic testing market is experiencing significant growth, driven by the rising prevalence of genetic disorders and cancer worldwide. Precision genomic testing enables early detection, accurate diagnosis, and personalized treatment of various diseases by analyzing an individual’s genetic makeup. As the demand for targeted therapies and precision medicine increases, the market for genomic testing continues to expand, offering promising advancements in healthcare. According to the CDC, when one parent has an autosomal dominant disease or condition, each child has a 50% probability of inheriting the genetic mutation responsible for the condition.

Genetic disorders, including cystic fibrosis, sickle cell anemia, and Huntington’s disease, are becoming more prevalent, largely due to increased awareness and improved diagnostic capabilities. Many inherited diseases require precise genetic analysis for proper diagnosis and management, making genomic testing an essential tool in modern medicine. Additionally, the growing application of whole genome sequencing and next-generation sequencing (NGS) technologies has enhanced the ability to identify genetic mutations associated with various hereditary conditions, further boosting market demand. There are approximately 10,000 distinct types of single-gene diseases, also known as monogenic diseases, which result from mutations in a single gene. According to the World Health Organization, these conditions affect 10 out of every 1,000 individuals. This equates to an estimated global prevalence of 70 to 80 million people living with a monogenic disease.

Cancer remains one of the leading causes of mortality globally, with millions of new cases diagnosed each year. Precision genomic testing plays a crucial role in oncology by identifying genetic mutations that contribute to tumor development. According to GLOBOCAN, the total number of cancer cases worldwide in 2022, including non-melanoma skin cancer (NMSC), was 19,976,499. When excluding NMSC, the global cancer case count decreased to 18,741,966. Of these cases, 9,566,825 were reported in men, while 9,175,141 were recorded in women. By leveraging genomic insights, oncologists can design personalized treatment plans that are more effective and have fewer side effects compared to conventional therapies. Liquid biopsy, companion diagnostics, and pharmacogenomics are some of the key advancements in genomic testing that are revolutionizing cancer care, enabling early detection and tailored therapeutic approaches. Technological advancements in genomic sequencing, artificial intelligence (AI)-driven bioinformatics, and big data analytics are further propelling market growth. The decreasing cost of sequencing, coupled with increasing government initiatives and funding for genomic research, has facilitated the widespread adoption of precision genomic testing. Additionally, collaborations between biotechnology firms, research institutions, and healthcare providers have accelerated the development of innovative genomic solutions, making them more accessible to patients worldwide. Despite the market’s rapid expansion, challenges such as data privacy concerns, regulatory complexities, and the need for skilled professionals remain significant hurdles. Ethical considerations surrounding genetic data and the potential misuse of personal genetic information also pose challenges for the industry. However, ongoing advancements in cybersecurity and regulatory frameworks aim to address these concerns, ensuring the responsible use of genomic data for healthcare applications.

The global precision genomic testing market is expected to continue its upward trajectory, driven by the increasing burden of genetic disorders and cancer. As precision medicine becomes a standard approach in healthcare, the integration of genomic testing into routine clinical practice will further enhance patient outcomes and revolutionize disease management. With continuous technological innovations and supportive government policies, the market is poised to transform the future of personalized healthcare.

Increasing Adoption of Personalized Medicine

The global precision genomic testing market is witnessing significant growth, primarily driven by the increasing adoption of personalized medicine. Advances in genomics and molecular diagnostics have enabled healthcare providers to tailor treatments based on an individual’s genetic profile, leading to improved patient outcomes. Personalized medicine is gaining traction in oncology, cardiology, rare diseases, and infectious diseases, where precision genomic testing plays a crucial role in identifying genetic mutations, guiding targeted therapies, and predicting disease risks. This shift toward individualized treatment strategies is fueling the demand for advanced genomic testing solutions worldwide.

Technological advancements in next-generation sequencing (NGS), polymerase chain reaction (PCR), and microarray-based testing have revolutionized the precision genomic testing landscape. These innovations have significantly reduced the cost and time required for genetic analysis, making precision medicine more accessible. In addition, the integration of artificial intelligence (AI) and big data analytics in genomic testing has enhanced the accuracy of disease diagnosis and treatment selection. As a result, pharmaceutical and biotechnology companies are increasingly investing in genomic testing to develop targeted therapies, further propelling market growth.

The growing prevalence of genetic disorders and chronic diseases such as cancer and cardiovascular conditions has also accelerated the adoption of precision genomic testing. As early detection and personalized treatment approaches become essential in managing these conditions, healthcare providers and researchers are relying on genomic insights to make informed decisions. Moreover, government initiatives and funding for genomics research, coupled with regulatory support for genetic testing, are encouraging the expansion of precision genomic testing services globally. Despite its promising growth, the precision genomic testing market faces challenges, including ethical concerns, data privacy issues, and the high cost of advanced genomic testing technologies. Limited access to genomic testing in developing regions due to financial and infrastructure constraints further hinders market expansion. However, ongoing research efforts, strategic collaborations, and innovations in low-cost genomic sequencing methods are expected to overcome these barriers, paving the way for widespread adoption. The increasing adoption of personalized medicine is a major driver of the global precision genomic testing market. With continuous advancements in technology, expanding applications in healthcare, and growing investments in genomics research, the market is poised for sustained growth. As personalized medicine continues to reshape the healthcare landscape, precision genomic testing will remain a critical component in delivering tailored and effective treatment solutions for patients worldwide.

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Key Market Challenges

High Cost and Limited Accessibility

One of the primary challenges in the precision genomic testing market is the high cost associated with genomic sequencing and analysis. Whole genome sequencing and other advanced genomic tests require sophisticated technology, specialized expertise, and extensive bioinformatics infrastructure, making them expensive. Many healthcare systems, particularly in developing countries, struggle to integrate these services due to limited funding and lack of reimbursement policies. As a result, access to precision genomic testing remains restricted, preventing broader adoption among patients who could benefit from early diagnosis and personalized treatments.

Regulatory and Ethical Complexities

The regulatory landscape for precision genomic testing varies widely across different regions, creating barriers for market expansion. Many countries have stringent guidelines regarding genetic data collection, storage, and usage to protect patient privacy. Regulatory bodies such as the FDA, EMA, and other national health agencies impose strict compliance requirements on genomic testing companies, leading to prolonged approval processes for new tests. Additionally, ethical concerns related to genetic data privacy, potential misuse of genetic information, and the implications of predictive testing (e.g., for hereditary diseases) further complicate market growth.

Key Market Trends

The Integration of Artificial Intelligence (AI) And Big Data Analytics in Genomic Testing

The integration of artificial intelligence (AI) and big data analytics in genomic testing is transforming the market landscape. AI-powered bioinformatics tools enhance the accuracy and efficiency of genomic data interpretation, reducing the time required for diagnosis and treatment selection. These technologies enable researchers and clinicians to analyze vast genomic datasets, leading to novel discoveries in disease mechanisms and potential therapeutic targets. The growing use of machine learning algorithms in predictive genomics is expected to further enhance diagnostic capabilities and personalized treatment strategies. Regulatory advancements and government support have also played a crucial role in the market’s expansion. Various regulatory agencies, such as the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA), are streamlining approval processes for genomic tests, ensuring their clinical validity and utility. Several governments worldwide are investing in national genomic initiatives to promote precision medicine and integrate genomic data into healthcare systems, fostering widespread adoption of genomic testing.

Segmental Insights

Product & Services Insights

Based on Product & Services, consumables have emerged as the fastest-growing segment in the Global Precision Genomic Testing Market in 2024. due to the increasing demand for high-throughput genomic testing and the widespread adoption of next-generation sequencing (NGS) technologies. Consumables, including reagents, assay kits, and sample preparation materials, are essential components in genomic testing workflows. With advancements in precision medicine, there is a growing need for rapid, accurate, and cost-effective genomic analysis, driving the consumption of these essential products. Moreover, as genomic testing becomes more integrated into clinical diagnostics, pharmaceutical research, and personalized medicine, the recurring demand for consumables continues to rise significantly. Another key factor contributing to the growth of the consumables segment is the increasing number of research initiatives and clinical studies focused on genomics. Government funding, academic collaborations, and pharmaceutical investments in genomic research have expanded the use of genomic testing, further fueling the demand for consumables. Unlike genomic testing instruments, which are one-time investments, consumables are regularly purchased for each test conducted, creating a steady and continuous revenue stream for market players. Additionally, automation in genomic workflows and the miniaturization of sequencing technologies have led to the development of specialized consumables, improving efficiency and reducing turnaround times for genomic testing.  

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Regional Insights

Based on Region, North America emerged as the dominating region in the Global Precision Genomic Testing Market in 2024, driven by a combination of advanced healthcare infrastructure, strong research and development (R&D) capabilities, and increasing adoption of precision medicine. The region, particularly the United States, boasts a well-established genomics industry supported by leading biotechnology and pharmaceutical companies, renowned research institutions, and government initiatives promoting genomic testing. According to research findings, the U.S. pharmaceutical industry’s R&D expenditure reached a record-high of $102 billion in 2021. The presence of organizations such as the National Institutes of Health (NIH) and the Food and Drug Administration (FDA) has further facilitated the growth of the market by ensuring regulatory support, funding, and innovation in genomic testing technologies. Another key factor contributing to North America's leadership in this market is the rising prevalence of chronic and genetic diseases, including cancer, rare genetic disorders, and cardiovascular diseases. Precision genomic testing plays a crucial role in early disease detection, personalized treatment plans, and targeted therapies, leading to increased demand from healthcare providers and patients. Additionally, favorable reimbursement policies and insurance coverage for genomic testing services in countries like the U.S. and Canada have encouraged wider adoption of these advanced diagnostic solutions. The region's dominance is fueled by continuous technological advancements in next-generation sequencing (NGS), AI-driven genomic data analysis, and bioinformatics. Companies and research institutes in North America have been at the forefront of innovations, developing faster, more accurate, and cost-effective genomic testing methods. Strategic collaborations between biotech firms, pharmaceutical companies, and academic institutions have further accelerated market growth by driving clinical research, new product development, and commercialization of genomic testing solutions.

Recent Development

• In July 2024, Thermo Fisher Scientific Inc. partnered with the National Cancer Institute (NCI), a division of the National Institutes of Health, to advance research on new treatments for Acute Myeloid Leukemia (AML) and Myelodysplastic Syndrome (MDS). As part of the myeloMATCH (Molecular Analysis for Therapy Choice) precision medicine umbrella trial, the collaboration aimed to expedite patient matching for clinical trials. By utilizing Thermo Fisher’s next-generation sequencing (NGS) technology to analyze bone marrow and blood samples for specific genetic biomarkers, clinical sites were able to more efficiently assign patients to trials evaluating targeted treatments for identified mutations.
• In July 2024, Phenomix Sciences partnered with Hello Alpha to introduce personalized genetic testing for obesity, specifically targeting women. Hello Alpha, a virtual primary care platform, seeks to enhance women's healthcare by offering accessible, affordable, and confidential online medical services. 
• In January 2024, Myriad Genetics, Inc. acquired key assets from the IPG laboratory business, including its St. George, Utah facility. By incorporating the Precise Tumor and Precise Liquid tests into its portfolio, Myriad aims to drive innovation and expand its market presence. 
• In February 2024, Exact Sciences Corp., a leader in cancer screening and diagnostics, launched the Riskguard cancer test in the U.S. This test provides individualized patient reports, outlining gene-specific and familial risks for 10 common cancers, further advancing precision medicine in oncology.

Key Market Players

• Danaher Corporation
• Merck KGaA
• Revvity, Inc.
• Maravai LifeSciences
• GenScript Biotech
• QIAGEN N.V.
• PacBio Biosciences Inc.
• Oxford Nanopore Technologies plc.
• Illumina, Inc.
• 10x Genomics, Inc.

Report Scope

In this report, the Global Precision Genomic Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Precision Genomic Testing Market, By Technology:

o   Next-Generation Sequencing

o   Polymerase Chain Reaction

o   Microarray Technology

o   Sanger Sequencing

o   CRISPR/Cas Systems

o   Others

• Precision Genomic Testing Market, By Product & Service:

o   Consumables

o   Equipment

o   Services

• Precision Genomic Testing Market, By Application:

o   Oncology

o   Cardiovascular Diseases

o   Neurological Disorders

o   Reproductive Health

o   Rare Diseases

o   Others

• Precision Genomic Testing Market, By End Use:

o   Hospitals and Clinics

o   Diagnostic Laboratories

o   Research & Academic Institutes

o   Others

• Precision Genomic Testing Market, By Region:

o   North America

§  United States

§  Canada

§  Mexico

o   Europe

§  France

§  United Kingdom

§  Italy

§  Germany

§  Spain

o   Asia Pacific

§  China

§  India

§  Japan

§  Australia

§  South Korea

o   South America

§  Brazil

§  Argentina

§  Colombia

o   Middle East & Africa

§  South Africa

§  Saudi Arabia

§  UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Precision Genomic Testing Market.

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Company Information

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