March 2025
Principal Consultant
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The global genome sequencing market size is calculated at US$ 22.63 in 2024, grew to US$ 26.31 billion in 2025, and is projected to reach around US$ 101.93 billion by 2034. The market is expanding at a CAGR of 16.24% between 2025 and 2034. Genome sequencing is highly essential for genetic engineering, studying genetic disorders, and developing therapeutics, which is promoting the growth of the genome sequencing market.
Numerous fields, including proteomics, metabolomics, and genomics have emerged as a result of the sequencing of the genomes of numerous creatures. Instead of sequencing an organism's genome gene by gene, genome sequencing entails sequencing the complete genome. Genome sequencing is now a widely utilized screening technique for medical and scientific purposes. In fundamental research, translational vaccine and therapeutic development, and clinical diagnosis and inquiry, genome sequencing has grown in importance. Genome sequencing (GS) has grown more accessible in the age of precision medicine, and the value of genomics and multi-omics in clinical treatment is becoming more widely acknowledged.
These data sets will continue to grow in quantity and complexity due to biological approaches like DNA sequencing. Several conventional machine-learning techniques have been applied in the field of genomics to comprehend the dynamics of genetic data. Large volumes of genetic data are processed and interpreted in genomic analysis using AI methods like machine learning (ML) and deep learning (DL). Based on training from massive datasets, these algorithms are able to recognize patterns, forecast outcomes, and categorize genetic variants. It has a number of benefits over conventional techniques, including as increased precision, effective analysis, the discovery of biomarkers, tailored therapy through integration with clinical data, and the detection of new mutations.
Rising Prevalence of Genetic Disorders
There are now over 7500 uncommon illnesses with recognized molecular causes, which together are thought to impact about 300 million people globally. There is an estimated underlying genetic aetiology for over 80% of all uncommon disorders. Whole exome sequencing (WES) and gene panels are two examples of the rapid advancements in genetic testing and sequencing technologies that have the potential to greatly improve the diagnosis of uncommon diseases. Early and appropriate use of genetic sequencing technologies may help discover certain conditions sooner and even identify people before symptoms appear.
High Initial & Maintenance Cost
Notwithstanding the growing need for whole genome sequencing, the market is facing a number of obstacles that restrict its uptake. An important obstacle for industrial actors, particularly those from low- to middle-income nations, may appear to be the high upfront costs of installing and integrating whole genome sequencing with current systems. The expense of whole genome sequencing methods and solutions is further increased by the need for frequent maintenance and trained staff.
Rising Demand for Precision Medicine
The goal of precision medicine is to assist the appropriate patient receive the right therapy at the right time by using genetic data. Many genes can be sequenced quickly and accurately at once thanks to next-generation sequencing technology. The use of this technology in cancer is growing. The development of precision medicine, which bases treatment plans on a patient's disease-causing genetic changes, has been aided by the speed, accuracy, and growing cost of next-generation sequencing (NGS).
By product, the consumables segment held the major share of the genome sequencing market in 2024. The frequent use of consumables, ongoing improvements in reagents and target enrichment techniques, and the expanding use of whole genome sequencing in clinical settings—all of which fuel demand for consumables—are responsible for this segment's substantial market share. To further contribute to the segment's greatest share, several businesses are concentrating on both organic and inorganic tactics to improve their consumable goods.
By product, the software segment is estimated to grow at the fastest rate in the genome sequencing market during the estimated period. The features of biological data are numerous. The handling of biological information is a particularly difficult challenge because of all these features. As a result, a variety of bioinformatics software has been created to assist researchers in analyzing and interpreting this data. Genome analysis software and web-based servers Users may explore, search, retrieve, and study genomic sequence and annotation data using the graphical interface that a genome browser offers.
By technology, the next-generation sequencing segment was the dominant in the genome sequencing market in 2024. One powerful method in genomics research is next-generation sequencing (NGS). Through the simultaneous sequencing of millions of DNA fragments, NGS can provide detailed information on genetic variations, gene activity, genome structure, and behavioral developments. Better data analysis, reduced costs, and faster and more accurate sequencing have been the main focuses of recent improvements. These discoveries hold great promise for advancing our knowledge of diseases and enabling more customized treatment by exposing novel genomic information.
By technology, the polymerase chain reaction segment is expected to grow at the fastest rate in the genome sequencing market during 2025-2034. With several fascinating developments and fresh therapeutic uses in the works, PCR technology still has a lot of unrealized promise. Multiplexing capabilities and automation are expected to improve in PCR technology during the next ten years, making PCR testing more affordable and available to the general public.
By application, the clinical segment led the market in 2024. The use of genomics sequencing in therapeutic medicine has increased with the development of next-generation sequencing, also known as massively parallel sequencing. One of the most important technologies for assessing uncommon disorders, finding therapeutic targets in neoplasms, and checking for fetal aneuploidy is genomic sequencing (GS). People who are keen to use genetic information in their health management are studying emerging applications in research settings, such as GS for preconception carrier screening and predisposition screening in healthy persons.
By end-user, the academic & government research institutes segment dominated the genome sequencing genome sequencing market in 2024. The use of genomic sequencing in translational research to better understand and treat human health and illness is growing significantly. The number of clinical studies employing genomic sequencing technology to investigate important illness outcomes has skyrocketed as a result of the technology's many advancements. NGS techniques are set to become a dominating genomics tool in patient-oriented research because they are more affordable and versatile than first-generation sequencing.
By end-user, the hospitals & clinics segment is expected to grow at the fastest rate in the genome sequencing market during 2025-2034. In hospitals and clinics, genome sequencing—in particular, whole genome sequencing, or WGS—is being utilized more and more for epidemiological surveillance of infections linked to healthcare, uncommon illness diagnosis, cancer driver identification, and individualized therapy guidance. The number of patients using these tools has increased quickly as WES has become more entrenched in the clinic. According to estimates, around 25% of uncommon illness cases may be molecularly diagnosed using WES.
North America dominated the genome sequencing market in 2024. Pharmaceutical and biopharmaceutical companies' significant research investments, the region's top whole genome sequencing providers, the region's high level of awareness of whole genome sequencing, the government's supportive initiatives for genomics research applications, the expanding use of NGS-based research, the region's high cancer prevalence, the declining cost of sequencing, and the favorable reimbursement scenario are the main reasons for this region's large market share.
In January 2025, Advocate Health, CommonSpirit Health, Henry Ford Health, Northwell Health, Providence, and Trinity Health are among the top U.S. health systems that have announced the Truveta Genome Project, an innovative partnership that will create the largest and most diverse database of genotypic and phenotypic data ever compiled by generating genetic data on tens of millions of consented and de-identified volunteers. 17 health systems, Illumina, and Regeneron have invested $320 million in Truveta preferred shares at a valuation of more than $1 billion to enable this audacious endeavor.
The creation of next-generation technologies for healthcare delivery and population health management, as well as the advancement of therapeutic research and development, are made possible by Regeneron's strategic upfront investment of $119.5 million. $20 million was contributed by Illumina, Inc., a world leader in array-based and DNA sequencing technology. This expands on Microsoft's previously disclosed strategic investment in Truveta.
In March 2024, Genome Canada announced that the Government of Canada has invested $81 million in the Canadian Precision Health Initiative (CPHI). It is anticipated that $200 million will be invested in total, with co-funding from partners in the public, academic, and business sectors. With over 100,000 genomes that reflect the variety of Canada's population, the CPHI will provide the country's greatest collection of human genetic data to date. By releasing genome sequencing data for more individualized, preventive, and economical treatment, this historic partnership will contribute to the transformation of Canadian healthcare. Additionally, it will strengthen Canada's position in the very competitive field of health innovation.
Asia Pacific is estimated to host the fastest-growing genome sequencing market during the forecast period. Spending more on genomic research and growing knowledge of genetic abnormalities and illnesses caused by genome change are the causes of this extraordinary rise. For example, the Kerala Genome Data Center has been awarded a grant of INR 10 Lakh to INR 2 Crore by the Indian state government for a project including genome sequencing and data development. Research into sickle cell anemia, microbial genomics, and other chronic illnesses with a higher death rate can be started using the project budget.
In the past, China was seen as a biotech laggard. However, the sector is getting more inventive given that it has a coherent national policy and a wealth of resources to assist it. Domestic biotech innovation has been a focus of recent Chinese government efforts. The expansion of the industry has been greatly aided by a new national plan. Through its "Healthy China 2030" plan, which emphasizes medical innovation and expanding access to medications, China pledged to improve health outcomes for the Chinese people.
With over 8,500 biotech firms by 2023, up from only 50 in 2014, India is becoming a pioneer in biotechnology and has the potential to transform the global bioeconomy. In January 2025, Union Minister of State (Independent Charge) for Science and Technology Dr. Jitendra Singh said that India is no longer reliant on foreign genetic data, marking a significant step towards independence in the area of genomics. With the establishment of the Indian Biological Data Centre (IBDC) Portals and the "Framework for Exchange of Data Protocols (FeED)," the government made 10,000 whole genome samples available to researchers worldwide. In addition, Dr. Jitendra Singh stated that 10 million genomes will be sequenced in the future in order to boost India's progress in customized medicine and genomics.
Europe is expected to be significantly growing in the genome sequencing market during the forecast period. Globally, genomics is becoming more and more significant. Genomic research and collaboration that is patient-friendly and citizen-focused is highly valued by the European Union. The primary goal of the EU's '1+ Million Genomes' (1+MG) project is to provide safe access to genomics and the associated clinical data throughout Europe in order to facilitate innovative research and health policy formulation and to encourage individualized medical care that may enhance disease prevention. One of the largest genomes projects in the world, it primarily helps to establish international standards in this field.
A vital industry for Germany, biotechnology contributes significantly to value creation across a wide range of industries, but particularly in the industrial bioeconomy and healthcare sector. Germany has played a significant role in scientific advancement and the advancement of medical genetics. There are also some outstanding Nobel laureates and scientists from Germany. The importance of cutting-edge genomic technologies has grown in Germany despite a sluggish start.
The UK is a global leader in genetic research and healthcare. In addition to having unique research resources like the UK Biobank, the NHS in England was the first healthcare system in the world to offer whole genome sequencing (WGS) as part of normal treatment. The NHS's ability to provide patients with genetic healthcare is also developing quickly. Together, NHS England and Genomics England will bring cutting-edge genetic technology closer to the patient.
In September 2024, according to Gretchen Weightman, senior vice president of Illumina's Asia-Pacific, Middle East, and Africa division, genomics is essential to public health, from defining novel and emerging pathogens to transforming disease diagnosis, treatment, and prevention. Building our footprint and expertise in India makes sense to accelerate the more than ten years that Illumina has been assisting India by giving them access to genomic sequencing technology, particularly next-generation sequencing.
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