Rockville (MD), September 17, 2018 — The global sequencing market is expected to continue to grow rapidly for several more years, given that the NGS technology is becoming more accessible to users, and its commercial applications are expanding considerably in many areas, including diagnostics, drug discovery and development, agriculture, forensics and consumer genomics. In particular, the clinical diagnostics, screening and monitoring applications are expected to be a major driving force in the NGS market for many years. The global sequencing market revenues are projected to grow at a CAGR of 14.5% between 2017 and 2022 and reach approximately $8.9 billion in revenues in 2022. The finding was made in Kalorama Information's Next Generation Sequencing Market by Product Type (Instrumentation, Consumables, Services), Application (Research, Clinical), by Method (Sanger, Next-Generation) and by Geographic Region.
Kalorama Information's estimate includes next-generation sequencing and older Sanger systems. The market estimate is comprised of sequencing instruments, consumables (including sample and library preparation), and service revenues such as from extended instrument service contracts. This estimate includes capillary electrophoresis sequencing systems (based on the early Sanger sequencing method) and the next generation sequencing market, but this market report covers in more detail only the next generation sequencing technologies (NGS).
"Older systems are still very present and labs are using them and buying consumables, and thus are part of the market calculations," Bruce Carlson, Publisher of Kalorama Information said. "Still, next-generation systems are where future growth is going to come from. Certainly any clinical diagnostics are originating from NGS systems."
Oxford Nanopore's GridION benchtop device changed the market place when it was launched - users can purchase only consumables or both the instrument and consumables, for a defined period of time. It was not long for the larger companies to respond. Thermo Fisher Scientific launched its Ion GeneStudio S5 Series, also designed for affordability as well as speed and scalability all the while utilizing the instrumentation structure of its Ion S5 Series. Users can select from five different sequencing chips to sequence a throughput range from 2M to 130M reads per run. The company claims the system enables the production of high-quality sequencing data in a few hours. Illumina launched to market the iSeq 100 NGS instrument, which is a lower-priced, small, cartridge-based one-channel semiconductor sequencer that is also portable and can be easily integrated in hospital settings. The platform appears to be best-suited for smaller scale applications that require faster turnaround times, such as targeted gene expression, germline and somatic tumor profiling, microbial analysis, infectious disease surveillance, and food-borne pathogens testing.
"There's been more activity in instrument markets than in recent years, but consumables are still the area to watch in market growth," said Carlson.
The competition in the consumables segment of the market is much more intense than that in the instrumentation market. This segment has a high degree of fragmentation, with a large number of companies offering various types of products, such as sample and library preparation reagents, kits, automation devices, and other consumables. Companies that activate in this segment include Illumina, ThermoFisher Scientific, Agilent Technologies, BD Biosciences, Bioo Scientific, 10X Genomics, Epigentek, Kapa Biosystems, Millipore Sigma, New England Biolabs, NuGen Technologies, Promega Corporation, QIAGEN, Roche, Seqwell, Swift Biosciences, and TakaraBio.
Thus far, NGS technologies have been most commonly used in research to perform whole genome sequencing, targeted sequencing, RNA sequencing, ChIP sequencing and methylation sequencing. These types of sequencing involve the use of different library preparations methods and can be typically performed on the same NGS platform. The sequencing performed involves either de novo sequencing, which determines the genome or transcriptome of species with previously unknown genomes for which a reference sequence does not exist, or resequencing, in which the obtained reads are mapped or aligned to a known reference sequence.
Whole genome sequencing is a complex task that involves the analysis of the entire genome of a species. This type of sequencing is useful to determine the structure and variations of entire genomes but is not effective in terms of time and cost for the identification and analysis of specific genomic variants, such as those involved in clinical diagnostics.
For such applications, targeted sequencing is a better, more cost-effective approach, as it focuses on specific genes or regions of the genome of particular interest for researchers or clinicians, thus reducing complexity, shortening the necessary time, requiring fewer resources, and generating smaller, more manageable sets of data. In targeted sequencing, selected regions of the genome are isolated through various target enrichment strategies, such as PCR, probe hybridization, and tagmentation, followed by sequencing.
Whole exome sequencing is an example of targeted sequencing in which only the protein-coding region of the genome is investigated. Amplicon sequencing is also a type of targeted sequencing that has recently become an increasingly common application. In amplicon sequencing, PCR products, or amplicons, are analyzed by ultra-deep sequencing to detect genetic variations, particularly those occurring with low frequency, and differences in gene expression levels.
Transcriptome sequencing involves the analysis of RNA and can be used for the genome-wide profiling of gene expression. The transcriptome is the set of all RNA molecules, including mRNA, rRNA, tRNA, miRNA, and other noncoding RNAs produced in one cell or a population of cells. The study of the transcriptome provides insights into the biology of cells and can be used to determine the structure of genes and their splicing patterns, to detect rare and novel transcripts, and to quantify the expression levels of transcripts in different diseases and conditions. The analysis of the transcriptome has been done in the past using microarrays, but in recent years NGS has gradually replaced them due to its advantages, such as higher sensitivity and broader dynamic range.
ChIP sequencing methods are employed to study protein-DNA and protein-RNA interactions. ChIP sequencing combines sequencing with chromatin immunoprecipitation methods to precipitate DNA-bound proteins and analyze them via NGS in order to identify the binding sites of proteins in the genome. ChIP sequencing methods can be used in gene regulation studies to map the global binding sites for any protein.
Methylation sequencing is used in epigenetic studies and focuses on determining the cytosine methylation state over specific regions of the genome. Epigenetics involves the analysis of inheritable characteristics that are not transmitted by DNA sequence information, including changes in methylation patterns. The methylation pattern of DNA varies considerably among cell types and development stages and is influenced by genetic factors and cell processes in certain diseases. The analysis of DNA methylation is important in areas such as cancer research, biomarker identification, and target discovery in pharmaceutical R&D. For methylation studies, NGS is a cost-effective method that also offers greater coverage density and flexibility. Methylation sequencing can be done via two primary methods: whole genome sequencing, which provides a global profile of methylation patterns, and reduced representation bisulfite sequencing (RRBS), which identifies the specific methylated cytosines.
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