DNA sequencing is expected to revolutionize the conceptual foundation of medical sciences. However, issues related to public health and safety could pose a challenge to market growth.

Current advances in DNA sequencing technologies are dropping down sequencing cost while increasing throughput at a pace never seen before. Past-decade great milestones, as the establishment of a reference human genome (amongst others) and large-scale human genetic variation study in the 1000 Genome project, are in conjunction with the use of these techniques, triggering advances in many areas of basic and applied sciences.

In addition, different sciences are receiving benefits of sequencing technique, including forensic sciences, molecular biology, biotechnology, genetics, anthropology, and archaeology. DNA sequencing is expected to revolutionize the conceptual foundation of these fields. However, issues related to public health and safety could pose a challenge to the market growth.

Indian Market Dynamics

DNA SequencersThe Indian market in 2015-16 for DNA sequencers was valued at 175 crore. It may be segmented as capillary sequencers and NGS. The capillary sequencers market is divided in the ratio of 60 percent instruments and 40 percent consumables, whereas the NGS constitutes 70 percent of instruments and 30 percent consumables.

Research Update

An international team of scientists led by Dr Niranjan Nagarajan, from A*STAR's Genome Institute of Singapore (GIS), has released an updated version of GraphMap, a software specifically designed to analyze data from nanopore sequencing, which has been lauded for its potential to revolutionize genomics in being rapid, cheap and portable, and able to provide results in real time. The updated software makes more than 90 percent of the information coming out of Oxford Nanopore Technologies system usable.

The analysis of the DNA code of all life forms has been rapidly advancing due to the availability of new sequencing technologies to read DNA. It may not be too far in the future before multifunction handheld devices can be used to scan, analyze and record data, effectively allowing us to measure and monitor the genetic make-up of daily life. There are currently ongoing efforts to develop such tricorders, first described in the fictional universe of Star Trek, which can sense and intuitively visualize a diverse array of phenomena. For example, saliva and blood samples could be used to diagnose and prevent the spread of infections at home and at work. However, while DNA analysis has become easier, it is still error-prone and could be made more robust. Analytical tools such as GraphMap help compensate for these, using sophisticated algorithms.

Dr Nagarajan, lead author of the study and Principal Investigator of Computational & Systems Biology at the GIS noted, "Advances in DNA technologies have been truly mind-boggling and we are delighted to play a part in this revolution. GraphMap resulted from a wonderful trans-national collaboration with Ivan Sovic and Mile Sikic. Together, we hope that GraphMap will serve as a valuable addition to the toolbox for nanopore sequence analysis."

Race for Scaling

Next-generation sequencing (NGS) systems are evolving rapidly, meaning this should be a core area of focus for a company should they want to excel now and in the near future.

Of the NGS systems, bench-top sequencers have a good niche currently. Although they cannot process as much as the larger high-throughput systems, being smaller has its obvious advantages. In the long term, bench-top sequencers may end up getting squeezed out of their niche, however, finding no room for successful commercialization between the large high-throughput systems and handheld or portable sequencers that are based around nanopore technology.

At this stage, there are several different approaches different companies are working on concerning nanopore-based technologies. Leading the way in this sector of sequencing will certainly help strengthen any company and their competitive position. Many companies are competing, and to a certain extent this is a race for scaling, that is, who can get the most nanopores into the smallest area.

One of the problems that arise from the sequencing process is the flood of data that results. A key issue to note is just how well informatics will be able to handle this data flood. As read lengths become longer and more accurate, the informatics becomes easier. Interpretation of the data is another issue that arises, but focusing on medically actionable determinations should simplify rather than complicate the interpretation of results. Another point to consider is whole genome sequencing, a goal for many. Applications from this process becoming available everywhere at low cost are not too far into the future at the moment.

Next-generation sequencing is an area known for its dynamism. Sequencers and their capabilities are in an almost constant state of flux. Continual technological evolution is driving the transfer of sequencing into new environments, while allowing sequencing to become routine in many areas of traditional research.

Sequencing vendors are putting their efforts on improving system performance and extending read lengths. More chemistry kits are available to support target enrichment, an expanding menu of amplicon assays, targeted human DNA sequencing, and targeted RNA sequencing. Furthermore, some vendors are developing novel IT platforms to expand the range of analytical tools available to users.

Dr Pravin D. Potdar,Head, Department of Molecular Medicine & Biology,Jaslok Hospital & Research Centre, Mumbai
Second Opinion
Transitory Picture of Global DNA Sequencing Market

The global DNA sequencing industrial research has shown that there is advancement in DNA sequencing technology due to extreme decline of the cost of sequencing. In medical studies, DNA sequencer is potentially used in noninvasive detection methods, disease diagnosis, and personalized medicine. As per the global DNA sequencing report, in 2013, the cost for DNA sequencing instruments, consumables, and services was approximately USD 4.6 billion, which may reach USD 10.096 billion in the year 2017. Since 1975, DNA sequencing technology has gone through four generations of sequencing process; however, the fourth-generation technology – nanopore sequencing – is still under development. But presently, second-generation high-throughput sequencers are the main sequencing platform around the world, and thus over 95 percent of next-generation DNA sequencers have occupied space worldwide.

Dr Pravin D. Potdar
 Head, Department of Molecular Medicine & Biology,
 Jaslok Hospital & Research Centre, Mumbai

 

With all the advantages that potential NGS brings to research and diagnostics, it also has several pitfalls that need to be addressed. The first problem encountered for diagnostics was the massive amounts of data generated. Large-scale sequencing is on the rise with an increasing number of centers lining up to undertake ambitious projects that demand huge volumes of DNA data. Another challenge is the high cost of acquiring equipment, software, and consumables needed for NGS. Analysis and storage of data is another problem faced in the field of data output. The amount of data produced per sequencing cycle on NGS platforms runs into the gigabytes that require specialized high-power computers for quick, effective processing and analysis.

Sequencing is set to become even more accessible, with single molecule real-time sequencing, semi-conductor technology, and simpler chemistry already in use. Nanopore technology is expected to deliver the first fully miniaturized system, as well as the next big leap in sequencing performance and cost. These exciting advances suggest that the current trajectory of technological progress in DNA sequencing is likely to continue, extending the sequencing revolution from the lab into the clinic.

Indian Market Dynamics is based on market research conducted by Medical Buyer in July 2016.


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