With next-generation sequencing (NGS) technologies creating new ways to understand genomic samples faster and more affordably, NGS is transforming medicine. From enabling the diagnosis of genetic disorders to detecting novel disease variants, NGS is helping accelerate scientific and clinical applications and bridging the gap between genomic intelligence and our understanding of human health.
In NGS, the DNA to be deciphered is separated into single strands, which are usually chopped into short pieces and mounted on a surface—often a tiny bead—in a container called a flow cell. Each single strand fragment serves as a template to guide the synthesis of a strand with complementary bases, supplied one at a time to channels of beads. Because each added base has been modified to glow, a camera can record where it attaches—and hence the identity of the corresponding base on the original strand. The steps are repeated until the new DNA strand is complete (Pennisi, E., 2022).
Through early detection and diagnosis of disease, people can now use NGS to assess individual risk of disease and inform disease-management strategies. NGS has the potential to become a new standard of care in a clinical setting and represents the progress the industry is making to provide rapid, comprehensive insights to patients and providers. According to National Cancer Institute researchers, biomarker testing plays an important part in precision medicine and can help in selecting the right cancer treatment for specific genetic markers found in a certain type of cancer (Mills, D., 2022).
Most sequencing has relied on machines from a single company, Illumina. This year, key patents protecting Illumina’s sequencing technology will expire, paving the way for more competitions in the genome sequencing market (Pennisi, E., 2022). Last week, a young company called Ultima Genomics said at a meeting in Orlando, Florida, that with new twists on existing technologies, it could provide human genomes sequencing for $100. Ultima streamlined the process by spraying the DNA-laden beads by the billions onto round silicon wafers the size of dessert plates. Nozzles above each wafer gently squirt out bases and other reagents, which spread thinly and evenly across the wafer as it rotates, reducing the amount of these expensive materials needed. Instead of moving back and forth across under the camera, the disk moves in a spiral, akin to how a compact disk is played, which speeds up imaging (Pennisi, E., 2022).
A Chinese company, MGI, which last week announced it would begin to sell its machines in the United States this summer. “We may be on the brink of the next revolution in sequencing,” says Beth Shapiro, an evolutionary biologist at the University of California, Santa Cruz (UCSC). a subsidiary of Chinese sequencing giant BGI. MGI’s technology is similar to Illumina’s, but it increases accuracy by adding all four bases at once as it sequences DNA. To track which bases are incorporated, it uses antibodies, which are brighter and less expensive than fluorescent dyes. Illumina, too, is promising lower costs, and at the meeting it introduced new chemistries to increase accuracy and flexibility (Pennisi, E., 2022).
Another newcomer in the NGS space is Singular Genomics, a company that went public and launched their product last year. Drew Spaventa, Singular’s CEO, says that the company is “taking orders” for its benchtop platform, the G4, and is on target to start shipping instruments in the next few months (Julianna LeMieux, P. 2022). One of the newest entrants to the field is San Diego–based Element Biosciences, a deep-pocketed five-year-old company founded, and led, by a team consisting of several former Illumina scientists. After raising approximately $400 million, the company introduced its much-anticipated sequencer, the AVITI. AVITI, which incorporates dual flow cells, is like having two independent NextSeq instruments for the price of one. (NextSeq is Illumina’s benchtop instrument.) Whereas the NextSeq costs around $335,000, the AVITI is listed at $289,000 (Julianna LeMieux, P. 2022).
The global next generation sequencing market size accounted for $6,598.62 million in 2020, and is projected to reach $35,503.66 million by 2030, registering a CAGR of 18.2% from 2021 to 2030 (Vishal B., 2021). According to the results of a study by BCC Research, the global market for next-generation cancer diagnostics is projected to grow to $16.7 billion by 2025 (Mills, D., 2022).
The advances made yesterday are empowering more scientists and clinicians to sequence challenging samples they never thought they could. With continued acceleration and adoption, NGS could help us realize more breakthroughs in cancer research for generations to come.
Mills, D. (2022, June 24th ). How Next-Generation Sequencing Can Help Us In The War Against Cancer. Forbes. Retrieved July 6th from https://www.forbes.com/sites/forbestechcouncil/2022/06/24/how-next-generation-sequencing-can-help-us-in-the-war-against-cancer/?sh=23f9d8745548
Pennisi, E. (2022, June 15th). A $100 genome? New DNA sequencers could be a ‘game changer’ for biology, medicine. “This is the year of the big shake-up.”. Science. Retrieved July 6th from https://www.science.org/content/article/100-genome-new-dna-sequencers-could-be-game-changer-biology-medicine
Julianna LeMieux, P. (2022, April 4th). NGS Upstarts Expected to Take On the Champion. Genetic Engineering & Biotechnology News. Retrieved July 6th from https://www.genengnews.com/topics/omics/ngs-upstarts-expected-to-take-on-the-champion/
Vishal Bharadwaj, L. D., Onkar Sumant. (2021, July). Next Generation Sequencing Market by Product (Consumables, Platforms, Services and Nerve Blockers), Application (Diagnostics, Biomarkers and Cancer, Reproductive Health, Personalized Medicine, Agriculture and Animal Research, and Other Applications), Technology (Sequencing by Synthesis, Ion Semiconductor Sequencing, Sequencing by Ligation, Pyrosequencing, Single Molecule Real Time Sequencing, and Other Technologies), and End User (Academic and Research Centers, Pharmaceutical and Biotechnology Companies, Hospitals and Clinics, and Other End Users): Global Opportunity Analysis and Industry Forecast, 2021––2030. Retrieved June 8th from https://www.alliedmarketresearch.com/next-generation-sequencing-market#:~:text=The%20next%20generation%20sequencing%20market%20is%20segmented%20based,bifurcated%20as%20sample%20preparation%20consumables%20and%20other%20consumables.