Long-Read Sequencing – The Emergence of Third-Generation Sequencing

Written by: Prateeksha Singh, Research Analyst, BIS Research

Long-read sequencing technologies are overcoming early limitations in efficacy, accuracy, and throughput methods, broadening their application domains in genomics. Dedicated sequencing analysis tools that take into account the characteristics of long-read data, are hence required, but the fast pace of development of such tools can be overwhelming.

Long-read sequencing is also known as third-generation sequencing. Long-read sequencing is a deoxyribonucleic acid (DNA) sequencing technique currently being researched that can determine the nucleotide sequence of long sequences of DNA between 10,000 and 100,000 base pairs at a time. This technology removes the need to cut up and then amplify DNA, which is normally required in other DNA sequencing techniques.

The two main technologies within scientific research utilize long-read sequencing. For instance, nanopore equencing technology is used to change ionic current when single-stranded DNA fragments are moved through a nanopore. Nanopores are very small proteins forming pores embedded within a membrane. For the determination of exact nucleotide sequences, nanopores are used as they produce resistance at different levels. However, single-molecule real-time (SMRT) sequencing technology is used for the detection at different levels of the genome by fluorescence that is generated when a target DNA sequencing is replicated with modified nucleotides.

The long-read sequencing market is evolving at a very rapid pace, with emerging and established companies entering the market to develop long-read sequencing tools and software. The overall long-read sequencing ecosystem includes more than 30 companies that are developing various applications such as oncology, rare diseases, infectious diseases, and metabolic research, respectively. These companies are massively investing in conducting research and development for unraveling the potential of third-generation technology to transform sequencing outcomes.

This specific market within the healthcare ecosystem has a perfect blend of companies that are involved in the development and commercialization of third-generation sequencing. These companies include Agilent Technologies, Inc., Beijing Genomics Institute (BGI) Genomics Co., Ltd, Bionano Genomics, Inc., F. Hoffmann-La Roche Ltd., Illumina, Inc., Longas Technologies Pty Ltd, Novogene Co., Ltd., Oxford Nanopore Technologies, Inc., Pacific Biosciences of California, Inc., PerkinElmer Inc., QIAGEN N.V., Quantapore, Inc., and Thermo Fisher Scientific Inc.

The latest market study by BIS Research, titled “Global Long-Read Sequencing Market,” focuses on the products, application, technology, and regional analysis. The study offers an in-depth analysis of competitive assessment, country-level analysis, and potential market dynamics, which are shaping up the entire market.

During the report development, Prateeksha Singh, Research Analyst at BIS Research, collaborated with various stakeholders to gain a holistic understanding of the intricacies associated with the long-read sequencing market.

Following is an excerpt from the conversation between our analyst and industry spokesperson.

Q: What is long-read sequencing, and how do you perceive the long-read sequencing market?
A: Long-read sequencing technology, which is also called third-generation sequencing, the technology is a DNA sequencing technique currently being researched that can determine the nucleotide sequence of long sequences of DNA between 10,000 and 100,000 base pairs at a time. Long-read sequencing technology removes the need to cut up and then amplify DNA, which is normally required in other DNA sequencing techniques.

Q: How do the regulatory scenarios differ in the major economic zones such as the U.S., Europe, and Asia-Pacific? What changes, in your opinion, are highly necessary to bolster the uptake of the long-read sequencing market in these regions?
A: There needs to be the protection of sequencing data as protected health information, as well as severe punishments for gaining access to it without permission or using it against patients. I’m less familiar with the scenarios in Europe and Asia.

Q: What significant developments, according to you, in reimbursement scenario abiding third-generation sequencing would elevate their adoption rate throughout the global population?
A: Next-generation sequencing and third-generation sequencing as part of primary care would be ideal. The cost of giving a free test is well worth the savings overall in medical costs from having patient-specific therapy.

Q: Considering the fact that the long-read sequencing market is majorly used for end users such as research, hospitals diagnostic centers, and Clinics. What is your opinion on the major role of these end users?
A: These end users can provide more database and advancement in the specific applications, which can be modified and utilized by long-read sequencing, mainly nanopore sequencing technology and single-molecule read-time sequencing (SMRT).

Q: Given the fact that there is a rapid increase in long-read sequencing offerings by major diagnostic companies, do you think that long-read sequencing technologies such as SMRT sequencing and nanopore sequencing are effective for various applications?
A: The lower costs and faster turnaround times of these technologies are a big improvement over previous sequencing methods. I think more improvements in cost and speed would happen before third-generation sequencing is adopted for almost the entire population, though

Q: What, according to you, would be the biggest opportunity in the entire long-read sequencing industry? How are the market leaders expected to change their dynamics accordingly to meet the needs of the market?
A: Providing interpretations of the genomes would be a very valuable opportunity for the industry. If these companies could read the genome and connect the genes to specific applications (drugs that won’t work, drugs that work too well, certain disease risks), payers would be more willing to cover the costs of testing.

*All answers have been reproduced with permission from the respondents.
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