Expanding Horizons with NGS

Great strides have been made in understanding the complexity and diversity of genomes in health and disease. The field of DNA sequencing has come a long way, witnessing a multitude of innovations in instrumentation and reagents. Introduction of portable, handheld DNA sequencers with cutting-edge technologies have revolutionized modern science. Over the past few years, next-generation sequencing (NGS) technologies have continued to evolve, and have incorporated revolutionary innovations to tackle the complexities of genomes.

The advent of ultra-high-throughput sequencing is propelling research that was considered impossible only a few years ago, and is becoming more widespread within the clinical sector. The exponential acceleration in the capacity to sequence 3.2 billion human base pairs has been the driving force to expand the horizons of the approach to therapeutics. The leading market players have stepped ahead with precision medicine initiatives, with goals of sequencing tens of thousands of genomes. Rapid and low-cost sequencing is providing physicians with the tools needed to translate genomic information into clinically actionable results. With the applications of DNA sequencing expanding to biomarker discovery, oncology studies, personalized medicine, and forensics, the demand for DNA sequencers is expected to surge in the next few years.

As the technologies advance, the market players will leave no opportunity to attract buyers with lucrative and sophisticated options. New players seek to further democratize the field with novel sequencing solutions. Compared to the global markets, the Indian market, with less stringent regulations, improving healthcare infrastructure, government funding, and rising partnerships is expected to fly high over the next few years.

Global Market
The global DNA sequencing clocked a revenue of USD 5156 million in 2016 and is projected to reach USD 18,284 million in 2023, reflecting a CAGR of 19.6 percent, estimates Allied Market Research. Key drivers include diverse applications that include the detection of the genes responsible for genetic disorders and diseases such as Alzheimer’s and cystic fibrosis.

During 2016, the reagents and consumables segment dominated the market and accounted for more than 57 percent of the market. Suppliers are investing in reagents and consumables, as they generate high ROI due to the presence of a large installed base of equipment. Moreover, many government organizations like the NIH in the US offer grants for quarterly reimbursements for the R&D of consumables, which will contribute to the growth of this market segment in the future.

Factors such as technological advancements in NGS platforms, increasing applications of NGS, growing partnerships and collaborations, increasing adoption of NGS among research laboratories and academic institutes, and the decline in the cost of sequencing are driving the growth of this market.

The year 2016-17 has been a breakthrough year for the sequencing industry as the leading market players adopted product launches, agreements, collaborations, and partnerships as their key business strategies to ensure market dominance.

North America is estimated to command the largest share of the NGS market in 2017, followed by Europe and Asia-Pacific. Emerging markets are expected to offer significant growth opportunities owing to the improving healthcare infrastructure, government funding for translational research, and rising partnerships and agreements among market players.

Research Updates
The DNA sequencers industry is witnessing a revolutionary era with the technology stepping up multiple notches. These advancements have opened new horizons for the researchers for more highly powered experiments at the depth required to discover rare genetic variants. NGS technologies have the potential to conduct large-scale genomics projects with greater sample volumes and more breadth and depth in the genome. These sequencers will open up new markets by making routine a wide range of applications from ultra-deep sequencing of matched tumor-normal pairs, to large-scale variant discovery studies associated with complex diseases, and low-pass sequencing of seed banks to select for specific traits.

A collaborative group of researchers from Oxford University’s Wellcome Trust Centre for Human Genetics (WTCHG) and Genomics plc has announced the first sequencing and analysis of multiple human genomes using nanopore technology last year.

These initiatives mark the potential of nanopore sequencers for the whole-genome sequencing in humans. As the throughput of next-generation sequencers continues to improve and the cost of reagents declines, whole-genome sequencing (WGS) becomes increasingly cost effective, making it a realistic possibility for use in a clinical setting.

The application of DNA sequencers to detect cancer from circulating tumor DNA in the bloodstream holds a promising future in the development of tests for early cancer detection. The high-intensity sequencing approach scans a very broad area of the genome with high accuracy, yielding about 100 times more data than other sequencing approaches. This enormous amount of data will be instrumental in developing a blood test to detect cancer early.

Challenges and Opportunities
As with any evolving technology, many challenges come into play. Cost per experimental run, data storage, and analysis are areas of concern and limit the adoption of these technologies on a wider front. Cloud storage has become the repository solution for corralling the data generated and enables access and sharing among research labs. Leading market players continue to work with researchers to create solutions that will enable them to gain a better grasp of research results.

Clinical adoption of NGS will require regulated and approved processes and methodologies to enable clinical researchers to make fast, reliable, and accurate interpretation of results, which will in turn enable accurate patient diagnoses. With the advent of exciting tools and reagents and improved instruments, NGS continues to revolutionize how researchers explore the genome.

Road Ahead
The introduction of breakthrough technologies in the DNA sequencing industry holds the possibility of bringing a major change to both the economics and the science of DNA sequencing. Next-generation sequencing provides a broad investigation of the genome, and its application in the diagnosis of disease-associated genetic features. However, the interpretation of NGS data remains challenging owing to the size and complexity of the genome and the technical errors that are introduced during sample preparation, sequencing, and analysis. These errors can be understood and mitigated through the use of reference standards, well-characterized genetic materials, or synthetic spike-in controls that help to calibrate NGS measurements and to evaluate diagnostic performance.

The existing and forthcoming NGS tools have the potential to allow for revolutionary science, including direct sequencing of RNA or proteins, real-time genomic pathogen monitoring, or precision medicine based on personal genome sequencing.