The global genome sequencing market size was valued at USD 3.46 billion in 2022. It is estimated to reach USD 7.70 billion by 2031, growing at a CAGR of 9.31% during the forecast period (2023–2031).
Genome sequencing is a procedure to identify the sequence of bases present in the entire genome of an organism. It entails determining the arrangement of the As, Cs, Gs, and Ts that make up an organism's DNA, also known as DNA bases, in a genome. The human genome comprises over three billion of these genetic letters. Human genome sequencing is one of the greatest discoveries transforming biology in recent years.
The process involves four steps: preparation of clones containing the entire genome of an organism, collection of DNA sequences of clones, generation of contig assembly, and database development. In addition, because of the efforts of publicly funded human genome projects, the human genome sequence is freely available to the public, contributing to significant discoveries worldwide.
The prevalence of rare diseases affects about 10% of the global population. According to estimates, 80% of rare diseases have a genetic basis, making genome sequencing-based diagnosis a promising alternative for managing rare diseases. The number of rare diseases is around 7,000, most of which are chronically debilitating or even life-threatening, posing a huge burden on society.
The diagnosis of rare diseases is fundamentally changing due to genomics, moving away from symptom analysis and toward molecular etiology evaluation. Better care and targeted therapy will result from understanding the biological causes of disease, with predictable, evidence-based results. Thus, all these benefits are projected to augment the demand for genome sequencing in the market.
Since the completion of the Human Genome Project, the cost of NGS has decreased at a significant rate, outpacing Moore's Law. Through continuous innovations, vendors such as Illumina, Oxford Nanopore Technologies, and Thermo Fischer Scientific have helped to reduce the cost of NGS, enabling the USD 1000 human genome sequencing or even less. With the reduced NGS, vendors are leading the way in making it more affordable and accessible.
Various new start-ups, established companies, and research labs are developing genome sequencing-based diagnostics tests, which will help identify prenatal diseases, reproductive health, and the tracing of genetic diseases in patients. The reduced cost of sequencing services offered by genome sequencing vendors in the market makes this possible. Even developing countries such as India, Brazil, and the Netherlands are investing in genetic medicines for the future cure in healthcare, which is anticipated to boost the demand for genome sequencing in the upcoming years.
Low Penetration of Genome Sequencing in Developing Countries
LMICs are witnessing a low acceptance of NGS products. Genome sequencing-based diagnostic and customer genomics are still developing in African countries. Several cell and gene therapy products that are approved in developed countries are not available in many LMICs. Various other factors contributing to the low penetration and acceptance of genome sequencing devices in LMICs are lack of infrastructure, low growth potential in LMICs, and lack of awareness in these regions. Such factors are predicted to hinder market growth.
Since the introduction of portable sequencing devices, more field research studies have been utilizing this technology every year. Portable sequencing allows biologists to perform DNA analysis anywhere in the world. Oxford Nanopore Technologies introduced the MinION portable sequencer, which is smaller than a smartphone and can perform DNA sequencing in real-time anywhere. The technology consists of making a DNA strand across a membrane through proteins called nanopores that open a passage just big enough for DNA molecules to get through.
In addition to the existing portability advantage of the device, researchers have introduced further device simplifications. For instance, the Cold Spring Harbor Laboratory scientists have developed the world's first mobile genome sequence analyzer, a new iPhone app called iGenomics. Users can create a mobile genetics laboratory by pairing an iPhone with a handheld DNA sequencer. The increasing usage of portable genome sequencing devices by researchers in healthcare and other sectors is anticipated to create opportunities for market growth over the forecast period.
The global genome sequencing market is segmented by product, application, and end-user.
Based on product, the global genome sequencing market is bifurcated into consumables and sequencers and software segments.
The consumables segment dominates the global market and is projected to exhibit a CAGR of 10.68% over the forecast period. The consumables segment includes library preparation and sequencing kits to simplify the end user's workflow. Vendors offer WGS kits, which help to sequence the entire genome of any size and complexity. Targeted kits, including WGS and exome sequencing kits, will help end-users sequence exomes, specific genes, RNA, or other genomic regions of interest. These sequencing kits, which are provided in various configurations and cover a wide range of applications, maximize the end-users' capacity to define the target genome precisely. In addition, end-users prefer to use array-based genotyping consumables for various analyses, disease-related mutations, and genetic characteristics associated with cancer research. End-users can also select the specific genome sequencing kits to create their custom array to investigate millions of genetic markers.
Sequencers were initially introduced for the Sanger sequencing method in the early 1990s. These analyzers are becoming extinct over the period as new methods of sequencing, such as NGS devices, are introduced into the market. Analyzers using the Sanger sequencing were known as first-generation sequencing devices. The second-generation sequencing devices in the market include NGS sequencing or high throughput sequencing technology. Softwares include bioinformatics solutions that help researchers to analyze the large amount of sequenced data produced. In addition, various NGS data analysis software tools are available for data visualization, DNA sequence alignment, and variant calling. Key vendors such as Illumina provide cloud computing storage for the sequenced results. Their genome cloud computing environment features a collection of expert-preferred data analysis applications, which supports a broad range of studies and simplifies the NGS data management.
Based on application, the global genome sequencing market is divided into oncology, complex disease research, reproductive health, microbial research, and others.
The oncology segment is the largest revenue contributor to the market and is expected to exhibit a CAGR of 9.59% over the forecast period. Cancer is a disease of the genome, and cancer genomics seeks to pinpoint the genetic alterations that cause a healthy cell to develop cancer. Knowing these genomic alterations would help doctors diagnose patients more accurately, boost their knowledge of their prognosis, and enable them to receive personalized treatments. In addition, new cancer cases are anticipated to reach 24 million by 2030, which will likely augur well for oncology genome sequencing growth. Research efforts to find biomarkers and create companion diagnostics are driven by the growing need for efficient patient stratification.
The latest nanopore sequencing technology enables identifying and characterizing microbes from environmental or single organism samples, with rapid methods for pathogen detection at the laboratory. NGS enables researchers to perform large-scale WGS in a practical and accessible manner and comprehend the genetic makeup of organisms, which was previously impossible to study. This is projected to assist the end-users in examining microbial biological functions and tracking genetic changes, which will also help during an epidemic or pandemic.
Based on end-user, the global genome sequencing market is segmented into academic and research institutes, pharma and biotech companies, consumer genomic service providers, government and commercial labs, and others.
The academic and research institute segment owns the highest market share and is estimated to exhibit a CAGR of 9.34% during the forecast period. The proliferation of genome sequencing devices is largely due to numerous research institutes and standalone genomic laboratories in the US, UK, Germany, France, and China. These centers conduct extensive research on sequence structural levels of genomics to develop individualized and efficient new therapies that restore mobility, improve quality of life, and enhance surgical outcomes for patients with multiple disorders. Therefore, the market for genome sequencing is influenced by the growing interest in identifying the genetic roots of common and complex diseases, such as cancer, infectious disease, neurological disorders, and rare childhood disorders.
Most genomic service providers offer access to fast, high-quality, sample-to-data NGS services such as RNA and whole-genome sequencing. Partnering with certified sequencing service providers and offering consulting services will assist end-users with their advanced sequencing workflow. Genomic service providers customize their genomic solutions to meet the diverse needs of end-user. For instance, the Beijing Genome Institute (BGI's) Immune Repertoire Sequencing (IR-SEQ) service enables partners to examine the adaptive immune system, which allows researchers to understand adaptive immune-mediated diseases better and supports research into a broad range of other applications and single-cell sequencing services.
North America Dominates the Global Market
Based on region, the global genome sequencing market is bifurcated into North America, Europe, Asia-Pacific, Latin America, and the Middle East and Africa.
North America is the most significant global genome sequencing market shareholder and is anticipated to exhibit a CAGR of 8.83% during the forecast period. North America is one of the largest genome sequencing markets globally. It is leading other countries to increase the usage of genome sequencing-based healthcare and diagnostics in the medical sector. Countries such as the US and Canada are the major revenue contributors in the North American region. The genome sequencing market will likely increase in North America owing to the advanced healthcare infrastructure and rising awareness among the patient population.
In addition, the demand for personalized medicine has grown in the area since the advent of NGS. Personalized medicine exclusively targets diseased cells without harming the healthy part of the body. This increased efficiency goes along with limited side effects. The FDA in the United States approved 20% of treatments in 2017 that were personalized medicine, including molecular therapies, gene therapies, and genetic tests, to investigate particular medical conditions. All these factors positively contribute to the demand for sequencers in the market.
Europe is predicted to exhibit a CAGR of 9.92% over the forecast period. Europe has been a pioneer in advanced therapies such as cell and gene therapy, which requires the usage of genome sequencing for studying the impact on the patients. It is the first region to approve a gene therapy product for commercialization. Multiple hospitals, clinical research institutes, and pharma and biotech companies are involved in providing treatments and diagnostics based on genome sequencing in Europe.
Furthermore, the number of potential patients is growing rapidly across Europe, with an estimated 3.9 million new cancer cases and 1.9 million deaths from cancer in 2018. The increased awareness among European patients drives the application of personal genome sequencing testing, especially for reproductive health. Many consumer genomic service providers are also present in the region. They provide services to genome companies and research labs to sequence and analyze the genome. All such factors together boost the market growth.
In the Asia-Pacific region, the target population is growing, especially among people with cancer. Cancer is the second-highest cause of death worldwide, about 70% of which is observed in low- and middle-income countries. Infections like Hepatitis and HPV are responsible for up to 25% of cancer cases. Cancer drugs represent one-third of the top 15 bestsellers in the region. As conventional treatments are not so effective, the demand for personalized medicines is increasing with certain pricing strategies to increase patient affordability, thereby driving the demand for genome sequencers in the market.
Latin America is likely to be a significant market for genome sequencing in the upcoming years with the increasing number of product launches and approvals. The region uses more specialized medications like genome sequencing-based personalized medicines due to the rising prevalence of rare diseases, the geriatric population, and the rising number of cancer patients. However, the penetration of genome sequencing products is much lesser in Latin America compared to regions such as North America and Europe. Factors such as the lack of infrastructure, shortage of trained professionals for treating patients, high cost of products, and availability of a lesser number of the genome and genetic research-based products are limiting the market's growth prospects in the region.
The Middle East and Africa account for the minimal market share for various reasons, such as the lack of infrastructure compared to developed countries, reduced awareness among the patient population, and shortage of skilled professionals to use the advanced infrastructure in genome sequencing, genetic engineering, and genome-based research. However, the scenario in the Middle East and Africa is changing, with countries such as Turkey, Saudi Arabia, the UAE, and South Africa emerging as key contributors to the genome sequencing market.
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