The Ever-Evolving Capabilities of Genomic Sequencing Equipment/Systems

According to the National Cancer Institute under the National Institute of Health (NIH), Genomic Sequencing or DNA Sequencing is a laboratory approach for determining a specific organism's or cell type's whole genetic makeup. This approach can be used to identify alterations in specific regions of the genome. These modifications could aid scientists in better understanding how diseases like cancer develop. Genomic sequencing results can potentially be used to diagnose and treat diseases such as Cancer and other genetic disorders.

Genomic Sequencing Equipment and Machinery such as DNA sequencers are capable of reading genomes. The Equipment can not only read DNA from mammalian blood, but also from plant materials, microbes, and ferments. In recent times, using these machineries have enabled the University of New South Wales (UNSW) to sequence the full genome of a Koala. Due to technological innovations in the field, professionals can now simultaneously sequence multiple human, animal and plant genomes within a day. 

Technologies and Equipment for Genomic sequencing have evolved several folds since the development of sequencing techniques using polyacrylamide gel electrophoresis. New technologies have generated equipment that has been particularly effective in more quickly sequencing DNA since the automation of DNA sequencing in the 1980s. A lot of research and development has gone into refining the chemistry, automation, and systems for DNA sequencing.

Figure: Composition of the human genome

Source: ResearchGate & IndustryARC Analysis 

Critical Factors Shaping the Genome Sequencing Equipment Industry

A) Continuous endeavors and support for the advancement of genome sequencing technology and equipment have been vital to its development. For example, The X Prize foundation established the Archon X Prize to promote the development of full genome sequencing technologies, intending to award $10 million to a team that can build a device and uses it to sequence 100 human genomes in 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced, sequences accurately covering at least 98% of the genome, and at a recurring cost of no more than $1 million. Furthermore, the National Human Genome Research Institute (NHGRI) encourages new genomics research and development through funding.

B) In 2012, the introduction of CRISPR/Cas9 for gene editing was a huge scientific discovery that changed both basic and applied research in a variety of organisms. Genome engineering of many biological systems, including plants, using CRISPR technologies has made significant progress, and it is still a quickly expanding subject. CRISPR technology is not only useful for genome manipulation, but it may also be used for a wide range of other purposes. This has also sparked new developments in genome-editing systems which contain Cas9 nuclease variations, gRNAs, DNA donor templates, and other effectors like DNA deaminase.

C) Automated DNA sequencing Systems based on the Sanger method were first manufactured by Applied Biosystems. The systems worth over $100,000, used fluorescent dyes to tag each nucleotide and were capable of running 24 samples at a time. With more complex separation tactics, alternate visualization strategies, and more parallel samples, sequencing technology (and DNA synthesis technology) evolved with time. As a result, today's equipment is capable of processing 96 samples at once. Furthermore, unlike traditional gel-based Sanger sequencing and early equipment that could only generate 250 to 500 base pairs of DNA sequence per reaction, modern Genome Sequencing Systems can read 750 to 1,000 base pairs of sequence, making them considerably less expensive option and consequently driving their demand. In addition, Genome sequencing technologies that don't use gels have been developed by Key players such as BioRad and ThermoFisher, to further increase the efficiency of sequencing. These include flow cytometer instruments, scanning microscopes, and mass spectrometry systems.

Effect of Covid-19 on the Genomic Sequencing Equipment Market

Genomic sequencing enabled the world to rapidly identify SARS-CoV-2 and develop diagnostic tests and other tools for outbreak management. Continued genome sequencing supports the monitoring of the disease’s spread and evolution of the virus. Institutions such as the World Health Organization (WHO) have accelerated the integration of genome sequencing systems into the practices of the global health community.

In May 2020, Illumina, Inc., a key player, and manufacturer of Genome sequencing systems collaborated with the U.K. government to provide sequencing to uncover genetic factors in susceptibility to COVID-19. The initiative was called the “GenOMICC” study and has been carried out in the Illumina Sequencing Labs as well as in multiple facilities approved by The National Health Service (NHS). The initiative recently completed the milestone of sequencing 10,000 viral genomes. Additionally, a study by the U.S. Department of Health & Human Services shows that Scientists all across the globe are using Genomic sequencing to track the spread of variants and monitor changes to the genetic code of SARS-CoV-2 variant to uncover their lineage. The ongoing genomic research efforts to understand Covid 19 have propelled the demand for Genomic sequencing systems. 

Popular Genomic Sequencing Equipment and Their Uses:

Source: Company Website & IndustryARC Analysis

Figure: Percentage of Covid 19 cases sequenced to check for variants (2020*) 

Source: The Washington Post & IndustryARC Analysis

Sequencing Type Analysis:

Sanger Sequencing – Sanger Sequencing systems are the preferred option while performing low-throughput, targeted, or short-read sequencing. Sanger sequencing is still considered “the gold standard” in sequencing technology, owing to its sensitivity and relative ease of workflow and procedure. It is used across several applications which include focused sequencing, and validation of mutations found using orthogonal approaches.

Capillary electrophoresis and fragment analysis – Capillary electrophoresis (CE) systems are capable of performing both Sanger sequencing and fragment analysis. CE systems have shown to be particularly useful for routine quality control of therapeutic proteins, such as monoclonal antibodies. According to Springer, several advancements in the field of CE have driven the segment, particularly in the areas of sample preconcentration, separation media, and additives.

Next-generation sequencing (NGS) - Over the last 15 years, high-throughput DNA sequencing methodology (next-generation sequencing=NGS) has rapidly progressed, and new approaches are constantly being commercialized. The spectrum of analysis of NGS can extend from a small number of genes to an entire genome. As technology advances, so does the number of equipment available for basic and applied science. In recent times, most key players provide second or third-generation NGS systems. R&D Investments in NGS systems by key players such as Illumina and Thermo Fischer will drive the market.

Others- Others include solid-state sensor technology as well as Microscopes for Microscopy based Genome sequencing techniques. Other high throughput-based methods such as the “454” method have been gaining ground which has pushed the demand for pyro-sequencing-based equipment and systems.

Equipment Function Analysis:

DNA Sizing Analysis – DNA Sizing analysis equipment can separate and analyze amplified PCR products. It has several applications in the areas of cell line authentication and detection of aneuploidy. The multiplexing capability of segment analysis systems makes them highly cost-effective. It has also gained ground owing to its usefulness in the detection of SARS-CoV-2, in conjecture with Sanger Sequencing.

DNA Quantification Analysis – DNA Quantification systems such as Spectrophotometers, Microplate absorbance readers, and Fluorescence readers are extensively used in the molecular biological analysis in the areas of cell-free fetal DNA as well as circulating tumor cells. It is also used in the diagnosis of hereditary diseases and forensic medicine. 

DNA Shearing – DNA shearing is an experimental procedure that uses mechanical devices to randomly break DNA to prepare it for analysis or further processing. Recent advances in NGS have fueled the demand for DNA shearing equipment capable of optimal sample preparation and genomic library construction.

DNA Size Selection– DNA Sizing equipment can target and capture DNA fragments of specific sizes and is largely responsible for the quality of sequencing results. The development of new techniques such as ddRAD-seq, which increasingly rely on near-perfect size selection to produce results, will drive the market.

Others – Other products usually include general laboratory equipment such as Benchtop Micro centrifuges, Vortex, and thermal Mixtures as well as heat sealers, which are used for Genome sequencing. Rising investments in the research of genome mapping solutions have pushed the demand for Genome sequencing systems.

Application Analysis:

Molecular Biology – In molecular biology, genome sequencing systems are used to investigate genomes and the proteins they encode. Researchers can use the information obtained by sequencing to detect gene alterations, disease and phenotypic connections, and possible therapeutic targets. The application of molecular biology in multiple sectors will drive the Genome Sequencing equipment market.

Medicine – Genome sequencing systems are extensively used to sequence full genomes from patients and determine the risk of genetic diseases. They are also gaining ground as new treatments are being developed for rare diseases. As per The International Rare Diseases Research Consortium (IRDiRC), several governments, organizations as well as scientists have committed to rare disease research. Another study by the American Journal of Managed Care (AJMC) reveals that almost 5% of the worldwide population suffer from rare diseases and the number is expected to increase. The capabilities of Genomic sequencing systems in the diagnosis and treatment of rare diseases and genetic disorders may drive the market.

Virology – Genomic sequencing equipments are the most important solutions for the identification and study of DNA and RNA viruses. Genomic sequencing was critical in the detection of the influenza sub-type during the 1990 avian influenza outbreak and, in recent times have been extensively used for the detection of SARS CoV 2 sub-types.

Forensic Investigation - DNA sequencing may be used along with DNA profiling methods for forensic identification. Genomic sequencing equipments are used for DNA testing as well as paternity testing. A study by MIT reveals that over 25 million customers took DNA tests in 2019 which has been fueled by a surge in marketing and public interest in ancestry and health. The study predicts that the practice will be undertaken by 100 million more people within 2022. This will drive the market.

Other – Genomic sequencing solutions are also useful in other fields which include metagenomics and evolutionary biology. Genome sequencing is critical to research in the areas of ecology, epidemiology and microbiology. In a recent breakthrough, Scientists were able to sequence DNA from the remains of a mammoth.

Figure: Total Baseline birth prevalence of rare single gene disorders, by WHO region (2018*)

Source: Journal of Community Genetics & IndustryARC Analysis

Genetic disorders, are responsible for an increasing share of child mortality, morbidity, and disability while overall child death rates decline. Common genetic illnesses have been the focus of policy and public health programs in recent times. Gene sequencing can expose the underlying gene mutations and enable risk management

The impact of Next Generation Sequencing (NGS) Technology on Genomics:

Genetic testing using new technologies, such as Next-Generation Sequencing (NGS), is transitioning from the research to the diagnostic phase. NGS is a relatively new technology but is quickly gaining ground as it has led to the progress in the understanding and diagnosis of genetic syndromes and genetic diseases. Genomic disorders encompass those diseases in which there are a large gains or losses of genomic material. NGS equipment are used to scan the genome for gains and losses and losses of heterozygosity (LOH). The rapid development of NGS has radically reduced both the cost and the time required for Genome sequencing.

NGS systems have been indispensable in modern medicine and drug discovery since the early 2000s, in both research and clinical/diagnostic contexts. NGS can be used for RNA analysis in addition to the many applications it has in DNA sequencing. This allows scientists to determine the genomes of RNA viruses like SARS and influenza. Because of advancements in sample preparation, sequencing, and data analysis, NGS systems are now being utilized to examine heterogeneities at the single cell level, further driving their demand. Several key players such as Illumina, ThermoFisher and Bio-Rad have capitalized on the opportunity and provide numerous NGS systems related to WGS, Metagenomics Sequencing as well as RNA Sequencing.

Source: Company Website & IndustryARC Analysis

The significance of the Human Genome Project

The Human Genome Project (HGP) was a multidisciplinary scientific project whose goal was to map and comprehend all of humanity's genes. It was approved after the National Institutes of Health and the Department of Energy collaborated on a thorough set of five-year plans. According to the HGP, there are approximately 20,500 human genes. The HGP has provided the world with extensive information about the structure, organization, and function of the whole set of human genes.

The programs research on capillary-based DNA sequencing contributed to the development of several high throughput Genomic sequencing equipments such as the Perkin-Elmer 3700 and the Mega-Baceas DNA sequencer. The project also contributed to the development of automated DNA sequencing procedures and solutions.

Most importantly, the technological developments brought forth by HGP, decreased DNA sequencing's cost while increasing its speed and efficiency. For instance, it took 4 years for the HGP to produce the first billion base pairs of sequence and less than 4 months to produce the second billion base pairs. The cost of sequencing has dropped dramatically since the project began and presently, a human genome can be sequenced for only around $600. This has accelerated the usage of Genomic sequencing and henceforth driven the market of related equipments.

Figure: Cost of Sequencing per Human Genome

Source: NIH & IndustryARC Analysis

Development of new Genome Sequencing Methods will drive the market:

A number of novel genome sequencing technologies are currently being developed. For example, forensic researchers are increasingly adopting mass spectrometry with spectrometer equipment to determine greater resolution of DNA fragments. Additionally, nucleotide labelling with heavier elements for visual detection and recording is utilized in microscope-based techniques like as atomic force microscopy or transmission electron microscopy to identify the positions of inpidual nucleotides within large DNA pieces (>5,000 kb).

Moreover, development of “third generation technologies” and equipment will increase throughput and decrease the time to result ration, and cost by eliminating the need for excessive reagents and harnessing the processivity of DNA polymerase, thereby propelling the market.

The role of Genome sequencing on the future of Cancer treatment:

Identifying cancer-causing mutations can be essential to diagnosis, particularly when it comes to hematological cancers. Genome-wide sequencing is now also being applied to the analysis of circulating DNA in the plasma of cancer patients, as well as in inpiduals with other diseases. This technology enables non-invasive tumor detection and monitoring responses to therapy that promise to significantly improve patient management.

As per the NIH National Cancer Institute, almost 30% of cancer cases across several types, are familial or hereditary. The possibility of treating cancer on the basis of an inpidual genetic profile has led to a surge in cancer genome profiling of patients.

Additionally, initiatives taken by several governments to encourage genome sequencing among cancer patients have shown to be advantageous for genome sequencing equipment. For example, in 2016, the Netherlands Cancer Institute conducted a study in which 5000 inpiduals with metastatic cancer were subjected to genomic sequencing. Furthermore, in 2020, the Cancer Genome Atlas program, set up by the U.S. National Cancer Institute (NCI), had sequenced more than 20,000 primary cancer samples of 33 cancer types. NCI scientists are also building computational and analytical technologies to aid in the data processing.

Figure: Cancer Percentage by Type: 

Source –ResearchGate and IndustryARC Analysis

Key Facts and Figures

Dominant Markets: The North American region has the highest market share owing to several initiatives taken both by Government and Private Organizations to improve Genome sequencing technologies as well as discover new methodologies. 

Market Size: The Global Genomic Sequencing Equipment Market is estimated to be $6.5 billion in 2021 and is estimated to grow at a CAGR of 8.9% during the forecast period (2022-2027).

Market Share: The Market share is held by a few key companies such as Agilent Technologies, Bio-Rad and ThermoFisher Scientific. This is due to the extensive R&D investments made by the key players

Conclusion:

Many breakthroughs related to Genomes and DNA have been discovered. Thanks to ancient and new sequencing equipment and technologies. Beginning in the 1970s, systems using the Sanger technique allowed researchers to sequence long regions of DNA at unprecedented rates. Further improvement and automation of this method increased sequencing rates, allowing researchers to meet important Human Genome Project objectives considerably ahead of schedule. Advanced systems based on pyrosequencing methods such as 454 Sequencing, have further reduced the cost of sequencing, and aims towards access to inpidualized genomic information. In addition, the ability to sequence the genome more rapidly and cost-effectively creates vast potential for diagnostics and therapies. Furthermore, the capacity to sequence the genome more quickly and cheaply opens up a world of possibilities for diagnostics and therapeutics. 

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