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Next-Generation Sequencing – Next Step in Characterization of Complex Disease

Market Overview:

Next-generation sequencing (NSG) is a relatively new scientific discipline that has proven to be a paradigm shift in genomics and empowers clinical diagnosis and several other aspects of medical care. NGS data is addressing all biological questions with an advanced analytical approach and has progressed to a point where cutting-edge technologies can perform direct sequencing using clinical specimens or metagenomics.

The market has experienced enormous growth traction ever since the initiation of Human Genome Project (HGP) with an aim to reap superior medical benefits. Unlike the Sanger sequencing, the adoption of parallel processing for a massively huge amount of data has brought down sequencing costs and has boosted potential NGS implementation in hospitals and clinical settings even further. 

The trend accelerated the post-2010 epidemic of infectious diseases in Haiti. Furthermore, the use of Pulsed Field Gel Electrophoresis (PFGE) in the U.S., subtyping PulseNet surveillance has resulted in preventing the outbreak of millions of illnesses and has reduced healthcare costs.

Since the introduction of high-output sequencing methods, the number of applications that leverage the supremacy of genome-scale sequencing has exploded as a major scientific training discipline. And it is projected to implore market expansion at an exponential pace over the forecast period. 

It has also facilitated very-high-throughput DNA and RNA screening by allowing trillions of clinical observations to be made simultaneously during a single instrument run. The market is majorly driven by growing incidences of neurodegenerative disorders like Alzheimer’s and Parkinson’s, cancer, and other genetic diseases.

Trends in Next-Generation Sequencing:

1. The Dawn of personalized medicine:

Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are two main flavors of NGS technology. They have rendered the ability to recognize possible disease-causing elements not only in genes but also in genetic regulatory elements. The growing acceptance of NGS has spurred biomedical research, helping instruments and clinical methods to mature and fuel the application diversity of sequencing technology

Genomic data has also helped the development of precision and personalized medicines to provide suitable treatment to the right patient at the right time. NGS allows rapid and precise sequencing of many genes simultaneously. Although the development of personalized medicines using genomic data is still in its nascent stage, it is proving to be of great importance in the determination of mutation detects associated with tumor growth — and has heightened focus on rendering sequencing-matched therapies to patients.

2. Drowning in data volumes:

NGS is making great strides in genetic studies and clinical diagnosis, but the data generated in the process of analyzing sequenced reads, quality checking, and mapping to a reference genome still require efficient algorithms, powerful computing facilities, and obviously experienced staff. According to the Broad Institute in Cambridge, the data generated in DNA decoding for one month is the equivalent of one human genome every half hour, i.e. 200TB of raw data. 

In response to this challenge, the market is experiencing numerous collaborations to dramatically expand the size of its existing biological databanks. For instance, Australia is presently designing a framework to store and process sequencing data of rare diseases to form a massive database for R&D. A U.S.-based online platform called Sequencing.com has entered into a partnership with Microsoft to develop apps that can analyze genetic data from different sources and offer a corresponding genetic data storage platform. 

Also, companies such as Zenome, Nebula Genomics, and DNAtix have taken a step further by using blockchain technology to anonymize DNA sequences and permit them to trade the data access to the highest bidder. Furthermore, the UK launched a program to sequence up to 100,000 patient genomes who are suffering from cancer and other rare ailments. Ten companies, including AstraZeneca, GSK, and Roche have contracted to participate in the GENE Consortium, thus, gaining access to more than 5,000 sequenced genomes.

3. The advent of modern sequencing technologies:

New technology is being incorporated in the treatment of hematological malignancies and solid tumors, which is driving revenue generation for the NGS market. As costs continue to minimize, the market is entering a period where a complete catalog of disease genes are expected to become available over the coming years. Advancement in technologies has allowed for rapid DNA and RNA sequencing compared to the predecessor, viz., Sanger sequencing, and has, therefore, revolutionized the molecular biology and genomic studies.

Sequencing-by-synthesis reactions conducted by Illumina, Pacific Biosciences, Ion Torrent, and Roche 454 platforms use a polymerase reaction, while the former SOLiD platform and the Polonator Applied Biosystems used a ligation-mediated synthesis. Whole Genome Sequencing, Whole Exome Sequencing, De Novo Sequencing, Targeted Re-Sequencing, Chip Sequencing, RNA Sequencing, and Methyl Sequencing are few of the techniques prevalent in NGS.

Competitive Scenario:

Some of the key players operating in global next generation sequencing market are Illumina, Inc., Thermo Fisher Scientific Inc., Macrogen, Inc. , Roche Holding AG, BGI (Beijing Genomics Institute), QIAGEN N. V., Oxford Nanopore Technologies, Ltd., GATC Biotech AG, Perkin Elmer, Inc., Pacific Biosciences of California, Inc., Agilent Technologies, Inc., and Eurofins Scientific among others.

As next-generation sequencing technologies continue to evolve, it is expected to exhibit a major step change in convenience and speed, eliminating the need for technical preparation steps, and further simplifying workflows. These new technological advancements will inevitably become routine in clinical settings, in research, and far beyond. 

Rubik Angelo Barar is the Assistant Manager – Advanced Diagnostics & Biotechnology/Pharmaceuticals – Healthcare GVR. Rubik has ~7 years of research experience working on extensive market tracking and in-depth statistical revenue flow analysis of markets in the Advanced Diagnostics, Genomics & Bioinformatics segments. He is one of the core members of the team of analysts at Grand View Research and is known for his ability to suggest innovative solutions without losing sense of the fundamentals. 

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