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What Single Event Could Most Positively Impact the Future of NGS?

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Editor’s Note: Bio-IT World has just published a comprehensive market study on the future of next-gen sequencing and NGS Leaders invited Allison Proffitt, from Bio-IT World, to give us her perspective on the report, which you can download for free. In addition, we invite you to join the discussion and add your comments or questions about the study. - Janine Holley   study cover 

July 14, 2011
Allison Proffitt (Managing Editor, Bio-IT World) : What single event could most positively impact the future of NGS?  One response sums it up: “Uniformity in standards, analysis, more trained informaticians. The cost of sequencing is moot, now the data deluge is coming and none of the experiments are reproducible because of data storage and sharing data issues.”

When the results came in from the three surveys that make up The Future of Next-Gen Sequencing report, I was anxious to read through them—and it certainly was an undertaking! With over 1,400 respondents and more than 18,000 words worth of write-in responses, the full study represents a wealth of information and the message from respondents was loud and clear: there is a huge need for standards in the industry.

When we asked directly about standards, respondents were split over the best way to develop industry reference points for data management. Very few respondents thought the government should intervene, but researchers and informaticians generally favored user-driven directives while those IT professionals who support core facilities and manage and store data preferred that vendors include standards in their products. Perhaps that breakdown is predictable.

Though any solution will certainly evolve as the user community grows and more researchers have experience with the NGS workflow, the survey shows that it is already a problem worth addressing. Where are standards needed besides the inevitable question of how long and which data to keep? Should the standards be different for research data and clinical data? If our end goal is personalized medicine, is there really a distinction between the two? How do we balance standards that ensure reproducibility while still allowing for maximum creativity in dealing with a relatively new data type?

One respondent suggested “the development of industry standards that guarantee that only processed NGS data need to be stored (small footprint) and that those data are stored in a consistent format that is appropriate for any downstream analyses researchers from a variety of backgrounds may require.”

A tall order, indeed.

Over the next several months there will be much discussion here on NGS Leaders about what all of this loquacity actually means, and if you didn’t get to participate in the surveys on the first three rounds, there will be plenty of opportunities still to join the conversation. 

I-Study: Genomic Interpretation - Who Will Pay?
During this webinar, members of the study review team present preliminary findings of the I-Study, conducted at the Harvard Medical School's 2011 Personalized Medicine Conference.
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