November 2024
The global optical genome mapping market size is calculated at US$ 130.53 in 2024, grew to US$ 162.27 million in 2025, and is projected to reach around US$ 1150.73 million by 2034. The market is expanding at a CAGR of 26.8% between 2024 and 2034. The market’s growth is associated with growing research and development in rare diseases.
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OGM is being used by labs to treat hematological malignancies as well as postnatal constitutional genetic diseases. This opinion emphasizes how OGM's capacity to fully detect big balanced and unbalanced CNVs, repeat contraction disorders, and multiple repeat expansion diseases makes it a promising candidate to become the gold standard for prenatal genetic testing. OGM-based assays are inexpensive, do not require complex bioinformatic pipelines, have a 4-day turnaround time, are high-resolution in comparison to conventional methods, and can automatically detect all SV classes that are pertinent to prenatal diagnostic testing.
Large and complicated genomic datasets are processed in some fields, like clinical genomics, using a particular kind of AI technique called deep learning. The AI extraction of deep phenotypic information from photographs, electronic health records, and other medical equipment to guide subsequent genetic research seems to be the most promising use of AI in clinical genomics at the moment.
Application of OGM in Oncology
One next-generation cytogenetic technique that might displace standard-of-care methods for the genetic workup of different cancers is optical genome mapping (OGM). The technology's usefulness in tumor research and clinical application is demonstrated by its capacity to identify multiple classes of structural variations, such as copy number variations, deletions, duplications, balanced and unbalanced events, and complex genomic rearrangements, in a single assay and analysis.
Ethical Concerns Associated with Genome Mapping
Many of the same ethical issues that surround other genetic tests also apply to genome-wide sequencing (GWS), such as how to manage incidental findings, balance benefits, and harms while keeping stigmatization in mind, respect individual autonomy through consent procedures, and maintain confidentiality while taking into account how to protect those who are related to the individual.
Application in Biopharmaceuticals
With the help of major government funding and the quickly growing advancements in biopharmaceuticals and medication discovery, the worldwide optical genome mapping market is expanding significantly. Because of this collaboration, a dynamic environment has been produced in which advanced genomics technologies—like optical genome mapping—are essential to transforming personalized medicine and drug development.
By product & service, the services segment dominated the optical genome mapping market in 2023. To guarantee accurate mapping and analysis of genomic structures, these services comprise sample preparation, data processing, and interpretation. All of these tasks are carried out by qualified experts using cutting-edge technology. Researchers benefit from outsourcing the challenging process of optical genome mapping because it frees them up to focus on their scientific questions rather than being bogged down by difficult technological processes.
By product & services, the software segment is estimated to grow at the fastest rate in the optical genome mapping market during the forecast period. Software tools make it easier to manage, visualize, and analyze data effectively, which enables researchers to extract insightful information from complex genetic datasets. Advanced methods for structural variant finding, annotation, and comparative genomics are commonly included in these software systems, enabling researchers to identify genomic alterations that are clinically significant and elucidate their functional implications.
By technique, the structural variant detection segment dominated the optical genome mapping market in 2023. A high-resolution technique that can identify any kind of structural alteration in the genome is optical genome mapping. By combining many tests (chromosomal microarray, fluorescence in situ hybridization [FISH], and traditional karyotype) into a single test, OGM can significantly streamline lab operations. Reflex FISH investigations are no longer necessary due to the improved capacity to identify structural variation throughout the genome, which can significantly lower costs and turnaround times per sample. OGM can identify and fix more anomalies than karyotyping or FISH, according to parallel studies comparing it to standard-of-care testing.
By technique, the genome assembly segment is estimated to grow at the highest CAGR in the optical genome mapping market during 2024-2034. Optical maps offer precise precision and depth of coverage for de novo human genome assembly. A revolutionary technique based on DNA tagging rather than sequencing is optical genome mapping. It can create assemblies with almost no errors. Compared to third-generation sequencing, optical genome mapping has not only made it easier to put together a DNA molecule into a huge contig but it has also been effectively used to fix misassemblies in the genomes of plants and vertebrates.
By application, the research segment registered dominance in the optical genome mapping market in 2023. This is because optical genome mapping is widely used in genomic research and discoveries. To discover structural variants, comprehend genetic differences, and conduct thorough genome analyses, researchers depend on cutting-edge technology. The category is expected to rise over the projected period due to increased investment activities in research and development to enhance genomics understanding and applications.
By application, the diagnostic segment is expected to achieve the fastest CAGR in the optical genome mapping market during the predicted timeframe. Numerous studies have confirmed the clinical diagnostic potential of this technique thanks to OGM's end-to-end solution, which includes DNA isolation and data processing. OGM's adaptability in identifying structural changes spans a variety of uses and research areas, such as the identification of uncommon diseases and cancer, among others. OGM has already shown promise in the clinical diagnosis of hematological neoplasms using cytogenetic analysis. OGM is anticipated to significantly improve diagnostic resolution in the future by being able to identify single gene abnormalities.
By end-use, the academic research institutes segment held the largest share of the optical genome mapping market in 2023. To further their genomics research, these institutes have been using optical genomic mapping methods more and more. Scientists in disciplines like genetics, molecular biology, and biotechnology are always looking for instruments and methods that may provide them with a more thorough grasp of genomes.
By end-use, the hospitals & clinical laboratories segment is anticipated to grow at the fastest CAGR during the forecast period. The enormous potential of optical mapping technology to further drug development, research, and precision medicine projects has been acknowledged by these institutions and clinical labs. Over the course of the projection period, the segment expansion is anticipated to be driven by the growing number of partnerships between these hospitals and instrument makers.
North America dominated the optical genome mapping market share by 46% in 2023. The focus on genomics research and development as well as funding for optical genome mapping research and development are contributing to the market's expansion. The market is expanding as a result of the region's abundance of academic institutions, research institutes, and centers for genetic research. Additionally, the market need for optical genome mapping has increased because of the rising incidence of genetic illnesses in the area.
The U.S. held the largest share of the optical genome mapping market in North America due to growing research and investments in genomics. For instance, In order to create a new initiative that facilitates the incorporation of genomics into learning health systems, the National Institutes of Health (NIH) granted $5.4 million in first-year funding in September 2024. Learning health systems are a kind of clinical practice that connects patient care with research, and they are found in many hospitals across the United States.
Aside from this, Genome Canada has been constructing the Canadian genomics ecosystem for almost 25 years, spending over $1.6 billion on more than 600 projects run by a network of researchers, technological hubs, and innovative businesses that are attempting to use genomes to solve the most important issues. To maintain its position as a leader in research and emerging technologies, the Canadian government keeps funding innovation and research. In order to launch the plan, which is currently being developed by the federal government, the government gave Genome Canada $136.7 million between 2022 and 2024.
In March 2024, the Canadian Genetic Data Commons (CGDC) program, which was spearheaded by Dr. Jordan Lerner-Ellis of Sinai Health, received more than $7.4 million in federal and provincial funding in a significant effort to use the potential of genetic data for healthcare. In collaboration with the provincial governments of Alberta, Manitoba, and Ontario, as well as the Canadian Foundation for Innovation, the CGDC seeks to create a nationwide infrastructure that facilitates the unrestricted exchange of genetic data among researchers, doctors, and other healthcare professionals.
Asia Pacific is estimated to host a significantly growing optical genome mapping market during the forecast period. The demand for sophisticated genomic technology to perform accurate and comprehensive DNA studies has increased due to the growing awareness of genetic illnesses and the increased accessibility of genetic testing. There are almost 8000 uncommon genetic illnesses known to exist, with about 450 instances recorded in India alone. Affected families face severe socioeconomic, emotional, and physical difficulties as a result of these diseases, which mostly affect children. An important tool for both research and therapeutic applications, optical genome mapping is distinguished by its capacity to carry out comprehensive genome analysis and identify structural changes across great distances. In addition, the Indian optical genome mapping market grew at the quickest rate in the Asia-Pacific area, while China's market had the highest market share.
According to Union Minister Dr. Jitendra Singh, India's future economic narrative would be led by the bio-economy and space economy. The bio-economy of India has expanded 13 times in the past decade, from $10 billion in 2014 to over $130 billion in 2024, according to Dr. Jitendra Singh, who announced the GenomeIndia Flagship Programme of 10,000 Genome Sequencing in New Delhi. According to Dr. Jitendra Singh of the GenomeIndia Project, this is a turning point for India as it will result in genetically based treatments and significantly improve the nation's public healthcare system. Over 4,600 different population groups, many of which are endogamous (marriage in close ethnic groups), make up India's 1.3 billion people, according to the minister. These groups have distinct genetic variations and disease-causing mutations that set them apart from other populations in the West. Therefore, he noted, it was imperative to build a database of the Indian reference genome in order to learn more about these distinct genetic variations and utilize the data to develop customized medications for the Indian populace.
In August 2023, we at Premas Life Sciences take great satisfaction in introducing state-of-the-art cytogenetics technology to India, and we are thrilled to expand our portfolio with Bionano's optical genome mapping (OGM) products and solutions, said Sunil Kumar Vats, Business Development Manager, Premas Life Sciences. Through the discovery of significant structural differences or their breakpoints, which are normally undetectable by short- or long-read sequencing methods, this collaborative partnership will allow our clients to further their study.
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November 2024
June 2024