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Genomics: Big Data Leading to Big Opportunities
Hannes Smarason
Genome Sequencing |Personalized Medicine | Transforming Health Care
The Big Data of Genomics
• We are in the midst of an explosion of ‘Big Data’ in a variety of human endeavors: – Roughly 2.5 quintillion bytes of data are generated every day; and– 90% of the world’s data was created in the last two years.
• Genomics has become a major source of the growth of such big data, particularly as the cost of sequencing genomes has plummeted
source: http://www-‐01.ibm.com/software/data/bigdata/what-‐is-‐big-‐data.html
Genomics: Driving the Exponential Growth of Big Data
• The raw sequence data for just one person’s whole genome use as much as 100GB –and already hundreds of thousands of individual genomes have been sequenced. – With more than 2,500 high-‐throughput sequencing instruments currently used in 55 countries across the
globe, more genomes are added every daya– The aggregate amount of genomic data is growing explosively, and NGS sequencing data are estimated to
have doubled in volume annually since 2007b
• Impressive population-‐wide sequencing efforts are leading the way, from 100,000 genomes in England, Saudi Arabia, and Iceland to 350,000 in Qatar to a million in both China and the U.S.
• And earlier this month, the CEO of the Cleveland Clinic predicted that soon children will routinely have their whole genomes sequenced at birth, implying a near-‐future in which 10s of millions of new genomes are sequenced annually.c
• sources: a http://omicsmaps.com/; b http://www.genengnews.com/issue/toc/248/; chttp://www.cnbc.com/2015/10/30/gene-‐testing-‐set-‐for-‐major-‐breakthrough-‐clinic-‐ceo.html
Creating Big Data is Just the Beginning• Analysis of big data in genomics and associated informatics is
already generating significant progress in cancer care and the diagnosis of rare diseases.
• Yet there is a broad consensus that a ‘data bottleneck’ is hampering the collaboration and discovery that could continue to revolutionize heathcare.
• In order to use genetic information to prevent or treat disease, researchers and physicians need resources that:– Draw together useful data from disparate sources; – Facilitate analysis and collaboration; and– Improve clinical practice.
Turning Data into Resources
• The power of genomic analysis needs to expand outward:– from major research centers and hospitals – to the myriad clinics and community hospitals where many patients receive care.
• To have the greatest impact on the broadest population, clinicians throughout the world’s health systems need access to the big data generated by DNA sequencing, even – or perhaps especially – if they are not affiliated with research institutions.
• And along with access, they need tools to analyze and interpret the data.
Answers in the Cloud
• Key medical advancements require not only big data, but also tools and resources to generate, interpret, and share analysis of millions of genomes.
• Cloud-‐based platforms – such as WuXi NextCODE’s Exchange – are essential to address the fundamental big data challenge of genomics: leveraging massive datasets to improve patient care in the clinic.
• Collaboration in the cloud works to dismantle existing ‘data silos,’ genomic information hosted only on local servers and analyzed on idiosyncratic, closed platforms.
• The WuXi NextCODE Exchange, in contrast, is a browser-‐based hub that:– affords secure, seamless collaboration with colleagues around the world; – provides access to NextCODE’s tools for making the critical links between variation in the
genome and disease and other phenotypes; and– supports analysis with harmonized links to the the most important
public reference data.
The Evolution of Genomic Analysis• The big data of genomics will continue to expand, and our approaches to
analyzing genomic data need to continue to evolve to meet the growing demands of clinicians and researchers.
• At WuXi NextCODE:– We are building upon our heritage of conducting the largest analysis of
genomic data (deCODE’s path-‐breaking Icelandic analysis) by assembling an ever-‐growing database of human genomes.
– We are committed to driving the movement of sequence data into patient diagnosis and care through user-‐friendly, leading-‐edge analysis and informatics.
• I am confident that data analysis and collaboration in the cloud will revolutionize healthcare, and exceptionally proud that WuXi NextCODE’sExchange is at the forefront of this exciting advancement.