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Market Study: The Future of NGS

The following is an excerpt from a comprehensive market study recently published by Bio-IT World on the future of next-gen sequencing. Download the full study  

The Future of Next-Gen Sequencing (NGS) 

 

Executive Summary: NGS Today
By Allison Proffitt
Managing Editor, Bio•IT World


Next generation sequencing is without a doubt one of the areas of life sciences research with the most buzz. Sequencing costs are falling and vendors everywhere are stepping up to address the data management and analysis needs associated with this new data source. CHI Professional Marketing Services and Bio•IT World sought to separate the hype from actual practice and disuss what researchers really want and need from next-generation sequencing, revealing some common complaints and new market opportunities.
     Moving sequencing into the clinic and applying it to patient care comes up again and again in both user and potential user comments, and several survey questions were asked specifically in light of using genomic data in the clinic. Many roadblocks emerged: HIPPA and patient privacy, cost, FDA approval of genomic diagnostic tests, and actionable and accessible data for physicians were all listed as concerns. The second survey separated responses between current users of next-generation technologies and those who are still in the discovery and research stage, and both groups identified data management as the biggest challenge to moving sequencing to the clinic, though current users also identified analytics as a key hindrance.
     Next generation sequencing is without a doubt one of the areas of life sciences research with the most buzz. Sequencing costs are falling and vendors everywhere are stepping up to address the data management and analysis needs associated with this new data source. CHI Professional Marketing Services and Bio•IT World sought to separate the hype from actual practice and disuss what researchers really want and need from next-generation sequencing, revealing some common complaints and new market opportunities.  Moving sequencing into the clinic and applying it to patient care comes up again and again in both user and potential user comments, and several survey questions were asked specifically in light of using genomic data in the clinic. Many roadblocks emerged: HIPPA and patient privacy, cost, FDA approval of genomic diagnostic tests, and actionable and accessible data for physicians were all listed as concerns. The second survey separated responses between current users of next-generation technologies and those who are still in the discovery and research stage, and both groups identified data management as the biggest challenge to moving sequencing to the clinic, though current users also identified analytics as a key hindrance.
     Security, an issue often raised in discussions about both genomics and the cloud, garnered surprisingly mixed views. Both users and potential users listed security least frequently as a challenge to moving sequencing to the clinic, yet both groups listed security most often when listing hurdles to cloud computing and storage. Many respondents dismissed the cloud completely as a potential aid to managing genomic data because of patient privacy concerns or company firewall requirements.
     As with any rapidly evolving field, training is a concern for NGS users. Roughly two thirds of researchers currently using NGS feel adequately trained for experimental design and using the actual sequencers, but slightly more than half of them feel inadequately trained to use analysis software. The margin narrows for bioinformaticians analyzing NGS data and for those supporting core facilities. Only half of those supporting a core facility feel adequately trained in experiment design, though about two-thirds feel well-trained to run the sequencers themselves.       
     Understandably, those not yet using next-generation sequencing feel generally under-trained, though the highest proportion is concerned about analysis software.
     Visualization consistently emerged as an area ripe for continued growth and development. No respondents from any group believed that current visualization tools are very adequate, though most researchers and bioinformaticians believed that tools available now are reasonably adequate. One third of potential users felt that available data visualization tools are not at all adequate for NGS research and analysis needs, which may reflect a linkage to the same respondents’ concern about training. Write-in responses asked not just for better visualization tools, but easier user interfaces. As the sequencing itself becomes more accessible, user-friendly visualization tools for analysis could have a huge impact on researchers that have data and desire, but no bioinformatics training.

Workflow Woes    
Users don’t seem terribly overwhelmed by any particular step in the NGS workflow. Few steps were marked by any respondents as “extremely difficult.” Moving data along the workflow and data analysis and construction received the highest consensus markings, both being labeled somewhat difficult. About 70% of researchers currently using NGS rated the sequencing itself as either not difficult at all, or only slightly difficult.
     Almost half of those supporting a core research facility found storage somewhat difficult, but that seemed to be less of a concern for researchers and bioinformaticians, likely reflecting the amount of data each group needs to store. Data volume was an issue raised several times by respondents to the first survey, but seemed to reflect pain points
in transfer, analysis, and management rather than in storage alone. Only eight responding users listed storage as extremely difficult, suggesting that their basic needs are met, but that there is room for improved solutions.

Threats to the Industry
     Researchers and bioinformaticians agreed, in general, which events were most likely to negatively impact the future of next-generation sequencing technologies. Both groups listed lack of qualified analysts as the biggest concern, with NIH budget cuts coming in second. Core facilities were more concerned about NIH budget cuts than any other event. The gene patent landscape was of high concern to all respondents.
     Potential users were most highly concerned about lack of industry standards, asking for government or regulatory changes including updated patent laws (again reflecting gene patent concerns) and clear FDA guidance to approve genomics in the clinic. However both users and potential users felt strongly that the best way to develop industry standards for data management and collection is user-driven directives as opposed to government or vendor intervention.
     At the bottom of the list, unplanned or overrun costs and migration of sequencing to big data centers both garnered only 13 votes each from current users and even less from potential users.

Wish List    
Respondents also identified several industry opportunities. As can be expected, many asked for cheaper and faster sequencing. But some respondents listed more specific requests as well, including PCR-free sequencing or other solutions to speed and simplify sample preparation; analysis tools that can combine types of NGS data (DNA, mRNA, methylation patterns, etc.); and a shared database of sequencing artifacts.
     While many of the survey responses reflected a consensus among users and potential users, the survey write-in responses revealed that next generation sequencing is still a field with significant variability in opinion. Many researchers are passionate about the technology’s potential, but are still at odds over the best way to make use of it.
     One respondent called all users to adopt and love cloud storage and computing, while another called for a paradigm shift in data storage and management and an infrastructure solution. A handful of users expressed concern that sequencing could shift to big data centers, while one respondent proposed that very solution to commoditize sequencing.
     Perhaps most surprisingly in light of sequencing’s technical advances, is how nascent the field is in the minds of researchers. Many respondents are still looking for buy-in from their executive levels, from physicians, from the public, and from regulatory agencies, and hope for strong clinical NGS success stories to illustrate the technology.
 

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