Clinical Potential and Use of DNA Sequencing on the Increase

After a period of relative stability from 2009 until 2011, the market for sequencing saw major developments in 2011 and 2012, and the introduction of Ion Torrent PGM, PacBio RS, and MiSeq changed the situation in the market, with new technologies expected from Ion Torrent and Oxford Nanopore.

The most significant sequencer systems in the market have been the result of acquisitions and/or licensing. For example, Illumina acquired Solexa, ABI acquired the SOLiD technology, and Life Technologies in turn acquired ABI as well as Ion Torrent. More companies are offering sequencing services, and genome scientists are hard at work seeking correlations between human disease and the architecture of individual genes, gene patterns, cellular pathways, and metabolic events.

In the future DNA will be routinely tested by a next-generation sequencer to help a doctor make a diagnosis. Kalorama Information (New York, NY, USA) suggests that sequencers are expected to see usage in at least five clinical areas over the next several years. At the same time, the healthcare market research publisher warns that there are unpredictable variables, which will affect the timing for each clinical application, including science, regulation, and economics, not to mention the strengths and weaknesses of different DNA sequencing technologies. Kalorama recently released a white paper, covering some of these perspectives, following the third edition of its full market research report on this industry.

"There are several clinical areas where next-generation sequencers are likely to see rapid growth, causing the overall segment to become a large fraction of the sequencer market within five years," said Justin Saeks, Kalorama analyst and author of a report on this sector.

According to Kalorama Information, these areas include cancer diagnostics and treatment, HLA/ MHC typing, neonatal and prenatal testing, pathogen detection, and pharmacogenetics. Kalorama notes these areas are progressing gradually, due to the regulatory process, the complexity of the science, and the medical community's cautious approach with new tests. Eventually, the technology is expected to gain significant momentum in healthcare, possibly more rapidly in Europe's easier regulatory environment, as the complex issues are addressed and the individual systems become proven in their applications.

DNA sequencing has changed biology and heralded the beginning of molecular biology. The technology is the foundation for the publication of the human genome. It is still cumbersome, labor intensive, and very expensive. The potential of being able to decipher genes has led to the development of next-generation sequencing technologies that perform the task in days instead of years and at a fraction of the cost.

The latest sequencer technologies permit analysis at the level of DNA sequencing, RNA sequencing, microRNA sequencing, methylation, transcription factor, and other regulatory protein binding; all of these are being explored as potentially valuable approaches. New technologies allowing single-cell sequencing may also be particularly useful for cancer-related applications

Companies such as Roche/454 Life Sciences, Qiagen, Illumina, Applied Biosystems (ABI), Complete Genomics, and Pacific Biosciences are highly competitive in the market with next-generation systems.

This work brought to the table a host of “omics”—pharmacogenomics, pharmacogenetics, proteomics, and metabolomics—all of which are supposed to play a part in companion diagnostics and increase the value of sequencing.

While sequencer instrument revenues may decline in the short term, the consumables from the growing installed base will grow the market for several years. It is hard to predict the timing, but cheaper sequencing technologies are anticipated to eventually lead far below the USD 1,000 genome, which will open up new possibilities. Several technologies currently under development could rapidly change the market in unpredictable ways once introduced.

The research market for sequencing has been enough to spur competition and new products, but research funding is declining. The National Human Genome Research Institute of the National Institutes of Health (NIH) is the main channel for sequencing-related funding, primarily through its extramural budget. Funding has declined from USD 580 billion in 2009 (because of increased stimulus funding) to USD 525 billion in 2012.

With resource funding expected to grow slowly or declining, manufacturers of DNA sequencing systems and makers of consumable products will need to seek other markets for products for growth in the market to continue.

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