NGS at the Forefront of Molecular Med Tri-Con 2015

ISMB Life Sciences Blog

Last week, the Cray team had the opportunity to attend and present at the 22nd International Molecular Medicine Tri-Conference, an event focused on drug discovery, genomics, diagnostics and information technology.

After speaking with attendees who stopped by the Cray booth, I walked away with five insights:

 

  • The interest in precision medicine – the tailoring of medical decisions, practices and products to individual patients rather than an aggregate population – is accelerating, thanks in no small part to President Obama’s recent recognition in his State of the Union message. The president’s proposed 2016 federal budget request includes a $215 million investment, to be allocated between different agencies, targeted at pioneering “a new model of patient-powered research that promises to accelerate biomedical discoveries and provide clinicians with new tools, knowledge, and therapies to select which treatments will work best for which patients.” A recurring theme was the recognition of the importance of this governmental endorsement and a validation of the premise of personalized medicine.Med TriCon
  • As DNA sequencers become more affordable and grant writers become more adept at receiving funding, the use of next-generation sequencing (NGS) technologies is accelerating. High-throughput sequencers, the critical technology for NGS, are no longer solely found in large research or hospital institutions. The World Map of High-throughput Sequencers lists more 7,389 sequencers situated in 1,027 centers worldwide.
  • NGS tools and technologies are still changing rapidly. Within life- and health-sciences organizations it is not unusual to find different workflows leveraging different tools in use by different teams (or even within the same teams). A 2013 study by Pabinger et al., “A survey of tools for variant analysis of next-generation genome sequencing data,” surveyed the use of 205 tools for whole-genome/whole-exome sequencing data analysis. As with any other set of emerging technologies, a bit of a shakeout is still likely to occur as clear winners emerge and organizations standardize to an appreciable extent on a common set of tools and methodologies.
  • Organizations are wrestling with the real impact of big data, facing the reality of dramatic increases in volume and variety of captured data. According to Chris Dagdigian of BioTeam, a single sequencer might require upwards of 60 TB and a few dozen CPU cores just to handle daily ingest and operation, let alone the storage and processing requirements for everything that has to happen later in the pipeline. Meanwhile, other data continue to come from a dizzying variety of sources as has always been the case in the life sciences.
  • As one Tri-Conference attendee mentioned, “It really says something about the state of our industry that Cray is present at this conference.” We are often asked at events, “Why is Cray here?” The answer is that, as tools and technologies change and improve rapidly, and as compute and storage requirements become increasingly difficult and risky to predict, supercomputing technologies and architectures are becoming critical to the performance and “future-proofing” of many NGS steps, including alignment, variant identification and variant annotation and visualization.

At the Molecular Medicine Tri-Conference Dave Anstey, Cray’s global head of Life Sciences, presented on the topic “Enabling Patient-centric NGS Workflows through a Hadoop®-Optimized Compute Platform and Graph Analytics.” More than 40 people attended Dave’s presentation.

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