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The Next Royal Wedding: DNA Strands & Tech-Wires

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CIOL Bureau
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Recently Cognizant and Eagle Genomics Ltd., a bioinformatics software company specializing in genomic data management and integration, announced that they are working with the Pistoia Alliance, Inc., a nonprofit, precompetitive alliance of life science companies and vendors, as one of the groups engaged to develop a conceptual cloud-based platform to facilitate access to public and proprietary sources of gene sequence data. 
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A conceptual platform developed by Cognizant and Eagle Genomics, as part of this piloting stage, will enable working group companies to securely share their bioinformatics resources among simultaneous, registered users in a secure, encrypted environment, while leveraging the flexibility, scalability, and cost-efficiencies of a cloud-based Software as a Service (SaaS) platform. The future of collaboration and externalization within the life sciences industry will increasingly utilize hosted information services, and the Pistoia Alliance expects to run future pilots to further explore this business model involving a range of participants, as per what the companies shared.
J Sairamkumar, Vice President, Life Sciences Practice, Cognizant takes out some time to help us interpret this new and interesting wedlock a little better.
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How is IT impacting sequencing technologies and pace of scientific research? It still costs around $20,000 to sequence a complete human genome.

The cost of sequencing is coming down dramatically; personal sequencing machines that are compact and relatively inexpensive have entered the market. Market predictions suggest that the cost of sequencing may become cheaper than the cost of storage in the near future. IT has a big role to play in this area. The current focus of IT is around building cost-effective storage, data transfer and management, data analysis and visualization, results sharing and assisting scientists with hypothesis generation and validation.  
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The Human Genome Project hit a milestone in June 2000 taking 13 years and $3 billion to complete the gargantuan task of sequencing three billion units. Has technology made the evolution of Genomics less formidable, less time-consuming, less costly and less complex?
The human genome project was a key milestone in understanding human biology and a step towards improving human health. It facilitated several high throughput domain technologies like microarrays, next generation sequencing and associated instrumentation and reagents, which today hold the key to understanding the disease mechanism better. Better diagnostics are also becoming feasible due to these advancements. Personalized medicine, once a distant aspiration, has started becoming a reality through these advancements.
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Would any comparison along the time-cost-results dimensions between Craig Venter’s private genome project and the Human Genome project be relevant here, in context to an alliance, and a Cloud-platform? Would Cloud bring economies of scale or more? Why does it have an edge over massive computing cores or supercomputers?
Just to clarify, Pistoia Alliance is a not-for-profit organization that is focused on enabling collaboration/interoperability and data sharing in the pre-competitive areas within R&D. This would translate to data transfer, data management, analysis and visualization. When we talk of cloud-based solutions, we are not just looking at the possibility of leveraging hardware/infrastructure assets over the cloud. There is a huge potential to leverage platforms and solutions that address targeted business and research needs such as Genomics on a Cloud based model. Cloud-based solution helps organizations convert capital cost to variable cost and also aggregate demand using external service providers. We believe many new business models would evolve that can be used to deliver solutions on the cloud.  Economies of scale would be one of the key factors influencing these models.
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Is the Cloud model amenable to genomics for production sequencing as well, in the light of challenges like bandwidth, networks, entry of large datasets into the system, metadata’s restriction for public clouds, fate of raw data, data compression and decompression time/costs, data security etc.? 
Next-generation sequencing has revolutionized data generation and continues to do so. Several options are being explored in terms of moving data to the cloud, data storage, and data security. The second phase of Pistoia would involve looking at NGS data and some of the issues articulated above. The solutions are still evolving and so are the standards/security requirements. The cloud model is definitely flexible to adapt to these requirements. It is important to resolve the logistics issues and design the right system and security architecture.
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What features of a cloud environment are appropriate for genome repositories to use? 
Cloud offers large storage space and massive compute capability, the two key requirements for genome analysis. Security would be an important factor that will drive adoption. The NGS data would be sensitive and governed by privacy regulations. The ability of the platform built on the cloud to provide sufficient encryption/protection would be critical in leveraging cloud for genome analysis.
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What's the blueprint on expected goals with each pilot as of now?
The focus of each of the pilots would vary and depend on the problem being addressed. The broader vision of this work-stream within Pistoia is biology data services. The first pilot focused primarily on non-functional aspects and was focused on demonstrating cloud-based solution and more importantly multi-level security. With the viability of the cloud solution and ability to deliver solutions securely established in the first pilot, the focus now shifts to major functional challenges. The first obvious choice was NGS. While Pistoia is still finalizing the scope of the second pilot, it is likely to address some of the key aspects around data storage, compute power and data privacy. 
What other streams of science or research can leverage Cloud and why? Are data standards needed and ready for using Cloud as a lever here?
Discovery research has several areas that are intensive from data storage and compute power perspective. Sequencing (specifically alignment, pipelines) in biology is one example. Chemistry also has potential areas such as molecular modeling and predictive modeling that can benefit from the cloud. Data standards are not a pre-requisite for cloud solutions. Data standards help in collaboration and increase efficiency of research. The focus on data standards is to foster collaboration/partnerships and reduce the total cost of research.
How similar or different would this initiative be from IBM’s Genome Cloud alliance with Univ of Missouri (given IBM’s HPC lineage)? Or for the now defunct Google Research datasets?
The focus of Pistoia Alliance is to identify potential common challenges faced by the pharmaceutical and biotech industry and scientific researchers in the precompetitive domains of R&D and address them through information-based solution pilots that will drive innovation and productivity that can eventually be owned, enhanced and delivered by the participating solution providers. The solutions built under this alliance will be available to all organizations (pharma/biotech/research centers) on a ‘Software as a Service (SaaS)’ business model provided by the solution providers and can be leveraged by the R&D organizations for their specific requirements.
What would be the scope of this alliance: in terms of research pit-stops, scaling up, depth, prototype stage, advanced collaboration, etc.?
The Pistoia Alliance is a global, not-for-profit, precompetitive alliance of life science companies, vendors, publishers, and academics that aims to lower barriers to innovation by improving the interoperability of R&D business processes. By assembling and aggregating common use cases, identifying specific, high-value areas of opportunity, and exploiting contemporary technologies and service delivery models, the Pistoia Alliance serves as a hub for envisioning information-based solutions that will drive innovation and productivity in the precompetitive domains of life sciences R&D.
Cognizant, as a leading solution provider to the life sciences industry, is leveraging the expertise within Pistoia to build cutting edge solutions/platform (sequence services) that will be delivered as a SaaS solution to the industry and academia. The platform will be constantly enhanced to address the most current scientific problems and will be based on feedback from both Pistoia and industry/academia in general.