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Five Clinical Areas Most Likely to Benefit from DNA Sequencing

Published: Monday, November 26, 2012
Last Updated: Monday, November 26, 2012
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The idea of a patient's DNA being routinely tested by a next-generation sequencer to help a doctor make a diagnosis may seem a bit futuristic right now.

But Kalorama Information 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 titled, "Next-Generation Sequencing Moves into Clinical Applications," covering some of these perspectives, following the third edition of its full market research report on this industry, DNA Sequencing Equipment and Services Markets.

"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 the report.

According to Kalorama Information, these areas include:

•    cancer diagnostics and treatment
•    HLA/ MHC typing
•    neonatal and prenatal testing
•    pathogen detection
•    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.

Kalorama suggests that different areas can have different requirements in terms of read length, accuracy, coverage, throughput, run time, sample size and other features, which may result in niches. For example, cancer applications might have specific needs for higher accuracy/coverage, longer read length, and/or single cell capability due to the large variety of cancers, the large genetic aberrations, and the heterogeneity of the tissue often involved. Over time, medical discoveries, along with technological advances in hardware, software, and reagents, will continue to change this landscape.

"The continuing drop in DNA sequencer and consumables costs, along with increases in performance, are the primary drivers of adoption into new applications," Saeks said. "But the exponential drop in the cost of sequencing may slow revenue growth in the near term, as the complex factors affecting adoption will likely take some time to shake out."

A range of new challenges and questions are also likely to manifest in unforeseen ways, for example, relating to ethical, legal, and social aspects. Along with the scientific challenges, these may take ten years or more to address before a tipping point is reached. But in the long term, sequencers are eventually expected to become ubiquitous in healthcare, with patients having the DNA in their circulating blood tested regularly. In the meantime, instrument suppliers, diagnostics companies, and clinical labs will need to consider how the various trends will impact these applications in the rapidly changing market.

Kalorama Information's report, DNA Sequencing Equipment and Services Markets, 3rd Edition, contains a deeper discussion of some of these trends, a review of products currently on the market, and competitive positions of players. In addition to analyzing DNA sequencer sales and making forecasts for future sales, it also looks at sequencer consumables and services sales.

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