Gene Fusion Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Category (Research, Diagnostic), By Technology (Next-Generation Sequencing (NGS), Fluorescence In-Situ Hybridization (FISH), Polymerase Chain Reaction (PCR), Immunohistochemistry (IHC)), By Indication (Solid Tumors, Hematological Malignancies), By End User (Pharmaceutical and Biotechnology Companies, Hospitals and Diagnostic Laboratories, Academic and Research Centers), By Region and Competition, 2020-2030F

Market Overview

Global Gene Fusion Testing Market was valued at USD 471.24 Million in 2024 and is expected to reach USD 947.49 Million in the forecast period with a CAGR of 12.32% through 2030. Gene fusion, also known as gene translocation or chromosomal translocation, is a genetic event that occurs when two separate genes from different regions of the genome become abnormally connected or fused together. This fusion can result in the creation of a hybrid gene, also known as a chimeric gene, which combines portions of both original genes. Gene fusion events can have significant implications for an organism's health, particularly when they occur in human cells and are associated with diseases, such as cancer. Gene fusion occurs when there is a rearrangement of genetic material, often through a process called chromosomal translocation. In chromosomal translocation, a piece of one chromosome breaks off and attaches to another chromosome, leading to the fusion of genes located on these chromosomes.

Identifying specific gene fusion events is of great diagnostic and therapeutic relevance, particularly in cancer. Gene fusion testing is used to detect these events and guide treatment decisions. In some cases, targeted therapies have been developed to inhibit the function of abnormal chimeric proteins. The development and adoption of targeted therapies for cancer treatment were driving the need for precise molecular profiling of tumors, including the detection of gene fusions. These therapies often rely on the identification of specific genetic alterations as therapeutic targets. Ongoing advancements in genomic technologies, particularly next-generation sequencing (NGS) and high-throughput molecular assays, were making gene fusion testing more accessible, cost-effective, and efficient. Research efforts were continually uncovering new gene fusion events and their relevance in various diseases, including cancer. This research drove interest in developing and commercializing gene fusion tests.

Key Market Drivers

Advancements in Genomic Technologies

​Next-Generation Sequencing (NGS) technologies, such as Illumina and Ion Torrent, have revolutionized genomics research and clinical diagnostics by enabling rapid and cost-effective sequencing of DNA and RNA. 

Long-read sequencing technologies, such as those developed by Pacific Biosciences (PacBio) and Oxford Nanopore, provide a more comprehensive view of the genome, particularly useful for detecting structural variants and complex genomic regions. The CRISPR-Cas9 system has transformed genome editing, enabling precise and targeted gene modifications, making it a powerful tool for functional genomics, gene therapy, and genetic engineering. Notably, in December 2023, the U.S. Food and Drug Administration approved Casgevy, the first CRISPR-based treatment for sickle cell disease and beta-thalassemia, marking a significant milestone in gene-editing therapeutics. ​

Advances in technologies like DNA methylation sequencing (bisulfite sequencing) and chromatin immunoprecipitation sequencing (ChIP-seq) have deepened our understanding of epigenetic modifications and their roles in gene regulation and disease. Techniques such as single-molecule fluorescence in situ hybridization (smFISH) and single-molecule real-time (SMRT) sequencing offer insights into molecular processes at the individual molecule level. Metagenomic sequencing facilitates the study of microbial communities and their genetic diversity, with applications in environmental microbiology, microbiome research, and infectious disease diagnostics.​

High-throughput methods, including RNA-seq and CRISPR screens, have enabled large-scale investigations of gene function, gene expression regulation, and protein interactions. Liquid biopsy techniques, such as circulating tumor DNA (ctDNA) sequencing, have emerged for non-invasive cancer diagnosis and monitoring by detecting tumor-specific genetic alterations in blood samples. Technologies like Hi-C and 3C-based methods have provided insights into the three-dimensional organization of the genome, revealing how genes and regulatory elements interact spatially. Artificial intelligence and machine learning are increasingly employed for genomic data analysis, aiding in pattern recognition, disease risk prediction, and facilitating drug discovery and personalized medicine.​

Advances in prenatal testing, such as non-invasive prenatal testing (NIPT), have improved the early detection of genetic disorders. The development of sophisticated bioinformatics tools and algorithms has become essential for managing, analyzing, and interpreting the vast amounts of genomic data generated by these technologies. These advancements are expected to significantly contribute to the growth of the Global Gene Fusion Testing Market.​

Increasing Utilization of Gene Fusion Testing in the Development of Targeted Therapies

Gene fusion testing helps identify specific genetic alterations, including fusion events, that drive the development and progression of diseases, especially cancer. These fusion events often create unique and targetable proteins or protein domains. Targeted therapies can be designed to inhibit these proteins, disrupting the disease's underlying mechanisms. For instance, the U.S. Food and Drug Administration (FDA) approved Illumina's TruSight Oncology Comprehensive test in August 2024, which can detect NTRK gene fusions across various solid tumors, facilitating the use of targeted therapies like Bayer's VITRAKVI (larotrectinib).

Gene fusion testing allows for the stratification of patients based on their genetic profiles. Patients who harbor specific fusion events that are targetable by a particular therapy can be selected for treatment. This personalized approach maximizes the chances of treatment success while minimizing side effects for patients who are unlikely to benefit from the therapy. Pharmaceutical companies use gene fusion testing data to inform the development of targeted therapies. Once a fusion event is identified as a potential drug target, researchers can design and test therapeutic agents, such as small molecule inhibitors or monoclonal antibodies, to specifically target the fusion protein. Gene fusion testing plays a pivotal role in patient selection for clinical trials of targeted therapies. These trials are designed to assess the safety and efficacy of new drugs in specific patient populations. Patients with the relevant fusion event are enrolled, ensuring that the therapy is tested on those most likely to benefit.

In some cases, gene fusion testing is used to develop companion diagnostic tests. These tests are designed to identify patients who are most likely to respond to a specific targeted therapy. Regulatory agencies, such as the U.S. Food and Drug Administration (FDA), often require companion diagnostics for certain targeted therapies. Gene fusion testing is also used to monitor a patient's response to targeted therapy. Changes in the fusion event or its associated markers can provide insights into treatment efficacy. If a therapy is not working, adjustments can be made quickly to explore alternative treatment options. Gene fusion testing can help researchers understand mechanisms of drug resistance. As patients may develop resistance to targeted therapies over time, continued testing and analysis of fusion events can guide the development of next-generation therapies that overcome resistance mechanisms. Gene fusion testing can reveal rare or previously undruggable targets. Even in cases where fusion events are relatively rare, they can be highly relevant for the small subset of patients who carry them. Identifying these targets opens new avenues for drug development. Targeted therapies developed through gene fusion testing tend to have fewer side effects compared to traditional chemotherapy because they selectively target cancer cells while sparing healthy ones. By tailoring treatment based on gene fusion testing results, patients have a higher chance of responding positively to therapy, leading to improved clinical outcomes and potentially longer survival rates. This factor will pace up the demand of Global Gene Fusion Testing Market.

Rising Incidence of Cancer

​The global population is growing, and as people live longer, the risk of developing cancer increases with age. According to the World Health Organization (WHO), about 1 in 5 individuals will develop cancer during their lifetime, with approximately 1 in 9 men and 1 in 12 women dying from the disease. Aging is a significant risk factor for many types of cancer. Unhealthy lifestyle choices, such as smoking, excessive alcohol consumption, poor diet, lack of physical activity, and exposure to environmental carcinogens, contribute to the development of many cancers. The WHO reports that tobacco use accounts for 25% of all cancer deaths globally and is the primary cause of lung cancer. Additionally, alcohol consumption is causally linked to several cancers, including those of the oral cavity, pharynx, larynx, esophagus, liver, colorectum, and breast. The increasing prevalence of obesity is linked to a higher risk of more than 30 types of cancer, including breast, colorectal, and endometrial cancers. Environmental factors, including air pollution, exposure to hazardous chemicals, and radiation, can contribute to cancer risk. The WHO highlights air pollution as a key environmental risk factor for cancer. Occupational exposures to carcinogens are also a concern.​

Certain infectious agents, such as human papillomavirus (HPV), hepatitis B and C viruses, and Helicobacter pylori, can cause cancers. Efforts to prevent these infections can reduce cancer incidence. Inherited genetic mutations can increase the risk of specific cancers. While these mutations are relatively rare, they contribute to some cancer cases. Improved cancer screening and early detection programs have led to the identification of cancers at earlier stages when treatment is more likely to be successful. The WHO emphasizes that early diagnosis is particularly relevant to cancers of the breast, cervix, mouth, larynx, colon and rectum, and skin. Increased awareness of cancer and better access to healthcare services have led to more people seeking medical attention for symptoms, resulting in earlier cancer diagnoses. Changes in lifestyle and dietary habits, along with increased exposure to carcinogens, have occurred due to globalization and urbanization. Advances in cancer treatment have increased survival rates. However, cancer survivors remain at risk of developing secondary cancers, contributing to overall incidence rates. Although there have been significant efforts to reduce tobacco use, it remains a leading cause of cancer. In regions where tobacco control measures are not as stringent, the incidence of smoking-related cancers remains high. In some regions, improved access to healthcare has resulted in earlier cancer diagnoses, leading to higher reported incidence rates. This factor will accelerate the demand for the Global Gene Fusion Testing Market.

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Key Market Challenges

Tissue Availability

In some cases, obtaining enough tissue for gene fusion testing can be challenging, especially when dealing with small biopsies or fine-needle aspirates. Insufficient tissue can result in inadequate test results. The quality of tissue samples is crucial for accurate gene fusion testing. Factors such as tissue preservation, fixation, and handling can impact the integrity of the genetic material and affect the reliability of test results. Tumors are often heterogeneous, meaning that different regions of the tumor may have distinct genetic profiles, including gene fusion events. Obtaining a single tissue sample may not fully represent the genetic diversity within the tumor. In some cases, tumors may be in anatomically challenging or inaccessible areas, making it difficult to obtain tissue samples for testing. Invasive procedures like biopsies carry inherent risks, including bleeding, infection, and damage to surrounding tissues. These risks can influence the decision to perform a biopsy and impact tissue availability. For rare or uncommon tumor types, obtaining sufficient tissue samples for gene fusion testing can be particularly challenging due to the limited number of cases available for study. Properly preserving and storing tissue samples for future testing is essential. Inadequate preservation or long-term storage conditions can compromise the quality of the samples. Obtaining informed consent for tissue collection is crucial, and ethical considerations may affect the availability of tissue samples, especially in cases involving minors or vulnerable populations.

Complexity of Gene Fusion Events

Gene fusion events can involve a wide range of fusion partner genes, and these partners can vary between individuals and even within the same type of cancer. Identifying all potential fusion partners and designing tests that cover this diversity can be challenging. Some gene fusions are rare or entirely novel, making them difficult to detect using conventional testing methods. Detecting these rare events requires highly sensitive and comprehensive techniques. Gene fusion events can have multiple variants, including different breakpoints and fusion junctions. Each variant may have distinct clinical implications, complicated interpretation, and treatment decisions. Tumors are often heterogeneous, meaning that different regions of a tumor may have different fusion events. This heterogeneity can impact the accuracy of gene fusion testing if only a small portion of the tumor is sampled. Gene fusions may co-occur with other genetic mutations or alterations in the same tumor. Understanding the interplay between different genetic alterations and their combined impact on disease is complex. Some gene fusion events involve complex chromosomal rearrangements, such as translocations or inversions, which can be challenging to detect and characterize. The accuracy and sensitivity of gene fusion detection assays can vary depending on the specific assay used, potentially leading to differences in results between laboratories and platforms. Certain gene fusion events may be specific to tissue types or diseases. Designing tests that cover a broad spectrum of fusion events across different diseases can be complex.

Key Market Trends

Personalized Medicine

Gene fusion testing plays a crucial role in identifying specific genetic alterations that drive diseases, particularly in cancer. With the advent of personalized medicine, oncologists and other healthcare providers can use the results of gene fusion tests to select targeted therapies that are most likely to be effective for individual patients. This approach maximizes treatment efficacy while minimizing side effects. Gene fusion testing is used to stratify patients into different subgroups based on their genetic profiles. Patients with similar gene fusion events may respond differently to treatments. Personalized medicine enables the selection of the most appropriate treatment regimen for each patient based on their specific genetic alterations. Gene fusion tests are often developed alongside targeted therapies as companion diagnostics. These tests help identify patients who are most likely to benefit from a particular drug. Regulatory agencies like the U.S. Food and Drug Administration (FDA) often require companion diagnostics as part of the drug approval process. Personalized medicine extends beyond initial treatment selection. It also involves ongoing monitoring of a patient's response to therapy. Gene fusion testing can be used to assess whether a targeted therapy is effectively suppressing the fusion event and whether treatment adjustments are needed.

Segmental Insights

Technology Insights

Based on the Technology, Next-Generation Sequencing (NGS) emerged as the dominant segment in the Global Gene Fusion Testing Market in 2024. This is due to its high sensitivity, accuracy, and ability to detect a wide range of gene fusions in a single test. NGS enables comprehensive genomic profiling, which is essential for identifying rare and complex genetic alterations such as NRG1, ALK, ROS1, and RET fusions. This capability makes it a preferred choice for oncologists and researchers aiming for precision diagnostics and personalized treatment planning. Compared to traditional methods like fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR), NGS offers a more scalable and cost-effective solution, especially in high-throughput settings. Its adoption has been further accelerated by technological advancements, reduced sequencing costs, and increasing availability of targeted NGS panels.

Indication Insights

Based on the Indication, Solid Tumors emerged as the dominant segment in the Global Gene Fusion Testing Market in 2024. This is driven by the rising incidence of cancers such as non-small cell lung cancer (NSCLC), pancreatic, breast, and colorectal cancers. These tumor types are increasingly associated with actionable gene fusions, including ALK, ROS1, NTRK, RET, and NRG1, making gene fusion testing a critical component of personalized cancer care. The growing need for targeted therapies in solid tumors has significantly boosted demand for advanced diagnostic tools capable of identifying these genetic alterations. Next-generation sequencing (NGS) and other molecular diagnostic platforms are being widely adopted in oncology to detect gene fusions in solid tumors, offering comprehensive profiling from limited biopsy samples. Regulatory bodies such as the FDA have approved multiple gene fusion-targeted therapies, further reinforcing the need for accurate and timely testing. Additionally, clinical guidelines now recommend gene fusion testing as a standard practice in managing solid tumors, especially NSCLC and gastrointestinal cancers.

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Regional Insights

North America emerged as the dominant region in the Global Gene Fusion Testing Market in 2024. This is due to its advanced healthcare infrastructure, strong presence of leading biotechnology and diagnostic companies, and early adoption of precision medicine. The region benefits from widespread implementation of molecular diagnostics, particularly in the United States, where gene fusion testing has become a routine part of cancer diagnosis and treatment planning, especially for solid tumors like non-small cell lung cancer (NSCLC). High awareness among healthcare professionals, robust reimbursement frameworks, and supportive regulatory policies from agencies like the FDA have further fueled the growth of the market in North America. The approval of multiple gene fusion-targeted therapies and companion diagnostics has also accelerated the demand for testing solutions in the region. In addition, increased investment in cancer research, presence of well-established clinical laboratories, and ongoing clinical trials focused on gene fusion-driven cancers have contributed to market expansion.

Asia-Pacific emerged as the fastest growing region in the Global Gene Fusion Testing Market during the forecast period. This is driven by rising cancer incidence, increasing demand for precision medicine, and expanding access to advanced diagnostic technologies. Countries such as China, India, Japan, and South Korea are witnessing a rapid increase in cancer cases, particularly lung, breast, and gastrointestinal cancers, many of which are associated with actionable gene fusions. As a result, there is growing awareness among oncologists and healthcare providers about the importance of early molecular profiling to guide targeted therapies. Government initiatives aimed at improving cancer care infrastructure and promoting genomics-based research are also playing a crucial role in boosting adoption. In China and Japan, large-scale population genomics projects and national cancer screening programs are being implemented, creating strong demand for gene fusion testing. Additionally, academic and research institutions across the region are increasingly collaborating with global diagnostic and biopharma companies to introduce advanced gene fusion testing platforms.

Recent Developments

• In March 2025, the FDA granted accelerated approval for zenocutuzumab (Bizengri), the first drug targeting tumors with the rare NRG1 fusion gene. This approval allows its use for treating patients with pancreatic or non-small cell lung cancer (NSCLC) whose tumors have the NRG1 fusion and have progressed despite standard treatments. The decision was based on a clinical trial showing that one-third of patients experienced tumor shrinkage of at least 30%, lasting a median of 11 months. Most trial participants had NSCLC or pancreatic cancer.
• In December 2024, Aventa Genomics, LLC, a clinical laboratory using 3D genomics to enhance patient outcomes and a subsidiary of Arima Genomics, Inc., announced it received a favorable final pricing determination for its Aventa FusionPlus test under the 2025 CMS Clinical Laboratory Fee Schedule (CLFS). The test, a next-generation sequencing tool, detects gene fusions, translocations, and rearrangements in solid cancers from FFPE tumor tissue.
• In December 2024, the U.S. Food and Drug Administration granted accelerated approval for Bizengri, a drug targeting the NRG1 gene fusion, found in around 3% of pancreatic adenocarcinoma patients. This approval highlights the potential of precision medicine, emphasizing the need for biomarker and genetic testing for all pancreatic cancer patients after diagnosis. According to PanCAN’s Dr. Anna Berkenblit, this approval provides a new treatment option for patients with NRG1 fusion and sets a positive precedent for rapid drug development in pancreatic cancer, despite the small patient population.
• In November 2024, Eisai Co., Ltd. launched TASFYGO Tablets 35mg (tasurgratinib succinate) in Japan for treating unresectable biliary tract cancer with FGFR2 gene fusions or rearrangements, following chemotherapy progression. The product received approval on September 24, 2024, and was added to Japan's National Health Insurance Drug Price List.
• In May 2024, Foundation Medicine, Inc. announced the U.S. launch of FoundationOne RNA, a tissue-based RNA sequencing test for detecting cancer-related gene fusions across 318 genes. The test covers all solid tumors and is particularly valuable for detecting fusions in cancers such as non-small cell lung cancer, pancreatic cancer, cholangiocarcinoma, sarcoma, thyroid cancer, and bladder cancer. Initially available for research use in September 2023, it is now launched for clinical use.

Key Market Players

• Amoy Diagnostics Co., Ltd.
• ArcherDX (Integrated DNA Technologies, Inc.)
• Biocartis
• Biocare Medical, LLC
• F. Hoffmann-La Roche Ltd.
• Guardant Health, Inc
• Illumina, Inc.
• Myriad Genetics, Inc.
• Natera, Inc.
• NeoGenomics, Inc.
• QIAGEN N.V.
• Thermo Fisher Scientific Inc

Report Scope:

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

•  Gene Fusion Testing Market, By Category:

o    Research

o    Diagnostic

•  Gene Fusion Testing Market, By Technology:

o    Next-Generation Sequencing (NGS)

o    Fluorescence In-Situ Hybridization (FISH)

o    Polymerase Chain Reaction (PCR)

o    Immunohistochemistry (IHC)

• Gene Fusion Testing Market, By Indication:

o    Solid Tumors

o    Hematological Malignancies

•  Gene Fusion Testing Market, By End User:

o    Pharmaceutical and Biotechnology Companies

o    Hospitals and Diagnostic Laboratories

o    Academic and Research Centers

• Global Gene Fusion Testing Market, By region:

o   North America

§  United States

§  Canada

§  Mexico

o   Asia-Pacific

§  China

§  India

§  South Korea

§  Australia

§  Japan

o   Europe

§  Germany

§  France

§  United Kingdom

§  Spain

§  Italy

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 Gene Fusion Testing Market.

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Company Information

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