Whole Genome Sequencing Market Size & Forecast
The global whole genome sequencing market is expanding rapidly, driven by a series of influential factors. Chief among these are the consistent decline in sequencing costs and the increasing incidence of cancer and genetic disorders. Additionally, the growing reliance on whole genome sequencing (WGS) in disease diagnostics and precision medicine, coupled with rising R&D investments by pharmaceutical companies, are further propelling market growth. Enhanced reimbursement and regulatory frameworks, higher healthcare expenditure, and increased funding for genomic research are also critical contributors. Other key drivers include the rising need for early disease detection, continuous technological innovation in sequencing platforms, and various government-backed initiatives promoting genomic sequencing in both research and clinical settings.
Furthermore, the whole genome sequencing market is poised to benefit from expanding applications in diagnostics and life sciences, government support for national-scale genomic projects, and growing interest from emerging economies.
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Whole Genome Sequencing Market Growth Drivers
Increasing Prevalence of Cancer & Genetic Disorders
The application of WGS in clinical environments is becoming increasingly common, particularly for cancer and genetic disorders. For rare diseases where traditional molecular tests fall short, WGS provides an effective alternative for identifying the underlying mutations. The global burden of rare and genetic diseases is notable. According to Global Genes, there are over 10,000 distinct types of genetic and rare diseases, and approximately 80% of these are genetic in origin.
The World Health Organization (WHO) reported in February 2023 that nearly 240,000 newborns die within 28 days of birth due to congenital disorders, with an additional 170,000 children aged 1 month to 5 years succumbing to such conditions globally. China alone is home to about 21 million people with rare diseases, as reported by the World Economic Forum. Meanwhile, the NIH estimates that around 20 million individuals worldwide live with sickle cell disease, including approximately 100,000 people in the U.S.
In terms of cancer, the International Agency for Research on Cancer (IARC) expects global cancer cases to rise from 26.9 million in 2022 to 39.5 million by 2040, with cancer-related deaths projected to climb from 9.7 million to 35 million by 2050. A significant portion of these deaths will occur in low- and middle-income countries. This surge in cancer and genetic diseases is fueling demand for accurate diagnostic tools, boosting the adoption of whole genome sequencing.
Technological Advancements in Sequencing Products
WGS offers high-resolution data and can detect both minor and major variations in the genome. It enables full-genome analysis, identifying structural changes such as copy number variations and translocations that conventional sequencing methods often miss. Thanks to next-generation sequencing (NGS), WGS is now used beyond human genomes—its applications extend to sequencing plants, animals, and microorganisms.
One of the most valuable features of WGS is its ability to conduct base-by-base analyses. It detects variants in both coding and non-coding regions, enhancing the understanding of complex genetic interactions. This ability has significantly improved diagnostic outcomes and supports its rising adoption in clinical practices.
Whole Genome Sequencing Market Opportunity
Government Initiatives Supporting Large-Scale Genomic Sequencing Projects
Advanced sequencing technologies have significantly cut the cost and turnaround time of sequencing, prompting governments worldwide to fund and promote genomic research. For instance, the Commonwealth of Australia’s Genomics Health Futures Mission invested USD 500.1 million in February 2024 to advance testing, diagnostics, and treatment using genomics.
Similarly, in October 2023, the Canadian government allocated USD 15 million to establish a Pan-Canadian Genome Library for better genomic data sharing. Meanwhile, in December 2022, the U.K. government invested USD 217 million in genomic research. These investments are expected to create long-term opportunities in the whole genome sequencing market by expanding its reach and infrastructure.
Increasing Applications of Whole Genome Sequencing
WGS plays a pivotal role in uncovering the root causes of unexplained health issues, especially when rapid diagnosis is required. It has proven effective in detecting intellectual disabilities, brain anomalies, immune system deficiencies, skeletal deformities, and other rare conditions.
With rising rates of congenital diseases in newborns, prenatal screenings have become more common. WGS can identify genetic abnormalities such as aneuploidies and microdeletions, helping healthcare professionals prevent or manage congenital conditions more effectively.
Whole Genome Sequencing Market Analysis: Key Findings
By Offering: Consumables Segment to Lead in 2024
The market is segmented into consumables, sequencing instruments, software, and services. In 2024, consumables are projected to dominate with a 70.1% share. This dominance is largely attributed to the recurring need for consumables, continuous upgrades in reagents and enrichment protocols, and the growing integration of WGS in clinical applications. Companies are actively investing in both organic and inorganic growth strategies to improve consumable offerings, further solidifying this segment's position.
By Sequencing Type: Large Whole-genome Sequencing to Dominate in 2024
The sequencing type segment includes large whole-genome sequencing, small whole-genome sequencing, human whole-genome sequencing, and others. In 2024, large whole-genome sequencing is expected to hold the largest share at 76.7%. Its appeal lies in its high-resolution capability and base-by-base analysis, which supports large-scale population studies. It also finds wide applications in tumor research, plant and animal breeding, and genetic diversity studies.
By Technology: Sequencing by Synthesis to Take the Lead
The market segments under technology include sequencing by synthesis, ion semiconductor sequencing, single-molecule real-time sequencing (SMRT), nanopore sequencing, and DNA nanoball sequencing. Sequencing by synthesis is set to dominate with 56.5% of the market in 2024. It is favored for its accuracy, the ability to handle both paired-end and single-read libraries, and its capability to deliver detailed genome sequencing.
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By Application: Research Applications Segment to Hold the Largest Share
Applications are divided into research and clinical uses. The research segment, which includes drug discovery, agricultural and animal research, and other applications, will hold the largest market share in 2024. The use of WGS in identifying drug targets, facilitating personalized medicine, and exploring gene-disease associations is driving growth in this segment. The technology is also widely used in food microbiology, environmental genomics, and microbiota studies in the food and beverage industry.
By End User: Pharmaceutical & Biotechnology Companies to Dominate
In 2024, pharmaceutical and biotechnology companies will lead among end users. This dominance is supported by increased R&D expenditure, rising prevalence of genetic diseases, and the integration of WGS into drug development workflows. Companies in this segment rely heavily on sequencing for cancer genomics, personalized therapy research, and the creation of targeted drugs.
Geographical Analysis
In 2024, North America is projected to command the largest share of the global whole genome sequencing market at 52.1%. Key contributing factors include extensive research investments by pharmaceutical and biotech firms, the presence of leading WGS providers, widespread awareness, and favorable government policies supporting genomics. High cancer rates and strong reimbursement structures also support market growth in the region.
Meanwhile, the Asia-Pacific region is expected to experience the fastest CAGR of 16.4% during the forecast period. The region is becoming a strategic hub for healthcare product development, fueled by a growing population, rising incomes, urbanization, and improved healthcare infrastructure. Countries such as China, India, Japan, and Singapore are heavily investing in biotechnology and next-generation sequencing, enhancing their competitiveness in the global market.
Whole Genome Sequencing Market: Key Companies
The global landscape is shaped by major players with extensive portfolios and geographical presence. These include Illumina, Inc. (U.S.), Thermo Fisher Scientific, Inc. (U.S.), QIAGEN N.V. (Netherlands), F. Hoffmann-La Roche Ltd (Switzerland), PerkinElmer, Inc. (U.S.), Agilent Technologies, Inc. (U.S.), Pacific Biosciences of California Inc. (U.S.), Danaher Corporation (U.S.), Bio-Rad Laboratories, Inc. (U.S.), Oxford Nanopore Technologies Plc. (U.K.), MGI Tech Co., Ltd. (China), and Beijing Genomics Institute (BGI) (China).
Whole Genome Sequencing Industry Overview: Latest Developments
In May 2024, QIAGEN launched the QIAseq Multimodal DNA/RNA Library Kit to facilitate NGS, including WGS and WTS. In November 2023, the company introduced a comprehensive research workflow with high-quality DNA extraction kits and user-friendly bioinformatics tools.
In October 2023, Pacific Biosciences released a WGS variant pipeline for standardized HiFi WGS data analysis. Illumina launched Connected Insights in March 2023—cloud software for tertiary analysis that reduces turnaround times and supports whole genome sequencing for rare diseases.
In July 2022, BGI Genomics partnered with the Serbian Genome Sequencing and Bioinformatics Center to enhance its sequencing and analysis capabilities for WES and WGS.
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