Next-generation sequencing (NGS) is a technological advancement in the field of research and life sciences sector that has cleared the way for the creation of various innovative medical treatments targeted at addressing major issues within the healthcare realm. The advancement of next-generation sequencing technology has resulted in significant improvements to the whole genome sequencing process to minimize associated costs.

The study of NGS assesses the global NGS sample preparation market by focusing on products (consumables, standalone automation instruments, automated workstation, accessories, and components) aimed at end users such as hospitals and clinics, academic and research institutions, pharmaceutical and biotechnology companies, and other end users (non-profit organizations, reference laboratories, and others).

According to BIS Research, the global NGS sample preparation market is projected to reach $3,279.3 million by 2026, growing from $1,468.9 million in 2020, at a CAGR of 14.24% during the forecast period 2021-2026.

What is next-generation sequencing (NGS)?

Next-generation sequencing (NGS) is a technique for identifying the sequence of deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) to explore genetic variation in illnesses or other biological phenomena.

This approach, which was first commercialized in 2005, was first referred to as "massively parallel sequencing" since it allowed the sequencing of numerous DNA strands at the same time, rather than one at a time, as with Sanger sequencing by capillary electrophoresis (CE).

Sanger sequencing is suitable for assessing modest numbers of gene targets and samples and may be completed in a single day. It is also regarded as the gold standard in sequencing technology; therefore, NGS findings are frequently validated using Sanger sequencing.

NGS allows the interrogation of hundreds to thousands of genes in multiple samples, as well as the discovery and analysis of various types of genomic features in a single sequencing run, ranging from single nucleotide variants (SNVs) to copy number and structural variants, and even RNA fusions.

NGS offers the best throughput per run, allowing investigations to be completed rapidly and affordably. NGS also holds the benefit of less sample input requirement, greater accuracy, and being able to detect variations at low allele frequencies.

How is NGS used for clinical practices?

NGS is used in clinical practices to enhance patient care in a variety of ways, including:

NGS detects a better range of mutations than Sanger sequencing: Small base changes (substitutions), insertions and deletions of DNA, major genomic deletions of exons or whole genes, and rearrangements such as inversions and translocations compose the spectrum of DNA variation in the human genome.

Traditional Sanger sequencing is limited to detecting substitutions, minor insertions, and deletions. For the remaining mutations, specialized techniques, such as fluorescence in situ hybridization (FISH) for traditional karyotyping or comparative genomic hybridization (CGH) microarrays to identify submicroscopic chromosomal copy number variations like microdeletions, are routinely used.

This, however, may also be obtained directly from NGS sequencing data, eliminating the requirement for specific assays while capturing the whole spectrum of genomic variation in a single experiment.

Genomes can be examined objectively: Capillary sequencing is dependent on prior information of the gene or locus under study. NGS, on the other hand, is fully unselective and is used to analyze whole genomes to identify wholly unique mutations and disease-causing genes.

In pediatrics, this might be used to uncover the genetic basis of inexplicable disorders. For example, Deciphering Developmental Disorders, a nationwide project led by the Wellcome Trust Sanger Institute in collaboration with NHS clinical genetics services, aims to uncover the genetic basis of unexplained developmental delay by sequencing affected children and their parents to identify deleterious de novo variants.

Combining this molecular data with thorough clinical phenotypic information has resulted in the identification of new genes that have been mutated in infected children with comparable clinical characteristics.

NGS's greater sensitivity enables the identification of mosaic mutations: Mosaic mutations are acquired as a result of post-fertilization, and as a result, they appear at varying frequencies throughout an individual's cells and tissues.

Capillary sequencing may miss these variations because they typically manifest with a subtlety that falls below the technology's sensitivity. NGS sequencing gives a significantly more sensitive read-out and may be used to discover mutations found in just a few percent of cells, including mosaic mutation.

Market Challenges

• High cost of instruments: One of the most critical tasks in NGS is sample preparation. Automation has been used in NGS sample preparation to improve the entire process of sample preparation by minimizing time and inefficiencies. Though the cost of genome sequencing using NGS platforms has dropped, it has not yet reached the point where it can be widely adopted in emerging countries around the world.

The high cost of high-tech NGS automated sample preparation platforms, including standalone systems and workstations, is preventing hospitals/clinics, forensic centers, and academic/research organizations from adopting them in growing and emerging markets throughout the world.

• High regulatory standards: Automated NGS sample preparation has transformed the NGS process by saving time, boosting throughput, and decreasing human error.

According to the U.S. Food and Drug Administration (FDA), as of 2018, all test items utilized in next-generation sequencings, such as software, reagents, consumables, and instruments, should be thoroughly documented and described. It also emphasizes that the materials used for library preparation and laboratory equipment such as automated liquid handlers should be thoroughly documented and specified.

Some regulatory standards established by government regulatory agencies must be strictly maintained while employing automated NGS sample preparation equipment. For example, according to a Science Direct article published in 2018, the U.S. National Institute of Standards and Technology (NIST) is working to standardize NGS sample processing.

Furthermore, rigorous NGS regulations in some countries are expected to restrict industry expansion.

To summarize, next-generation sequencing (NGS) technology is used to extract the entire and accurate sequence of required samples. NGS technology has progressed in various ways, including high resolution and accuracy, sequencing speed, throughput, and cost-effectiveness in genomic analysis.

NGS is a revolutionary technological advancement in the life sciences sector that has cleared the way for the creation of various groundbreaking medical treatments targeted at addressing major issues within the healthcare industry.