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Featured Keynote | Geo-nomics: Global Scale DNA Sequencing

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The rapidly falling cost of genome sequencing now makes it possible to obtain the genome sequences of large populations. The data collected from this infrastructure will enable the development of new therapies. Longer term, the goal is for an entire country to be sequenced and for the resulting data to be embedded in the national healthcare system. In this talk, Alex Dickinson, SVP for Strategic Initiatives at Illumina, will discuss how Illumina's BaseSpace and AWS are enabling this journey by driving innovations in genome sequencing for data collection, and cloud computing for data analysis.

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Featured Keynote | Geo-nomics: Global Scale DNA Sequencing

  1. 1. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y Geo-nomics: Global Scale DNA Sequencing Alex Dickinson SVP Strategic Initiatives
  2. 2. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y • Founded in1998 (IPO 2000) • 2014: 1.08B revenue, 30% growth • Headquarters in San Diego, CA – Manufacture in California & Singapore • Product Portfolio – > 50 major product launches – >8,300 publications on our technology • 90% of world’s sequence data is generated by Illumina instruments • Research ➡️ Clinical ILLUMINA
  3. 3. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y GENOME SEQUENCING
  4. 4. Life Sciences ~$5B New and Emerging Oncology ~$12BReproductive and Genetic Health ~$2B ~$1B ILLUMINA’S $20B ($40B) OPPORTUNITY
  5. 5. 10,000X 1000X 100X 10X 2007 201420092008 2010 2011 2012 2013 $10,000,000 Genome $1,000 Genome
  6. 6. $1,000 per human genome 18,000 genomes/year THE $1,000 GENOME: ILLUMINA HISEQ XTEN
  7. 7. “Do diagnostics, and the research comes for free” Prof. John Mattick, Garvan Institute, Sydney
  8. 8. 0 500,000 1,000,000 1,500,000 2,000,000 2014 2015 2016 2017 Genomes
  9. 9. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y GEONOMICS VISION The integration of genomics into national healthcare systems to enable personalize delivery of healthcare. – Patients experience improved health – Healthcare systems achieve lower costs – New national economic opportunities
  10. 10. 0 10 20 30 40 50 1990 2002 2020 Cardiovascular diseases Cancer Respiratory diseases (Asthma, COPD) Diabetes Other “non-communicable” diseases MillionsofDeaths
  11. 11. POLIO DIPTHERIA MUMPS SMALLPOX PERTUSSIS TETANUS 99.9% Photo credit:: TrueVision TV,
  12. 12. Pharmaco- genomics Screening: NIPT, ctDNA Undiagnosed Disease Cancer Treatment The Molecular Stethoscope
  13. 13. National Motivations 1. Better health care at lower cost 2. Desire for economic development 3. Fear of “orphaned ethnicity” 4. International competition
  14. 14. National success factors 1. Genomics-enabling legislative framework 2. Established genomics expertise 3. Single payer healthcare system 4. National Electronic Medical Record (NEMR) 5. Access to capital
  15. 15. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y GEONOMICS PHASES 1. Establish a Reference Genome that facilitates a baseline ‘healthy individual’ for population studies 2. Population studies to discover population-specific variants that enable personalized genomic applications 3. Scaling to enable one-time genetic testing of the entire population and secure storage of the resulting data 4. Deployment of genomic applications into the national healthcare system for use by clinicians and consumers
  16. 16. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y Financing Program Management Storage + Compute + Networking + Privacy & Security Sequencing Operations Analytics Reporting / Dissemination Systems Integration REQUIREDCAPABILITIES Pharmacogenomics Risk-adjustedHealthScreening CarrierTesting RareDiseaseDiagnosis NGS-informedcancerCare ChronicDiseasemanagement Wellness/PerformanceTraining PUBLIC HEALTH APPLICATIONS
  17. 17. Newborn (germline) Liquid Biopsy (cancer screening) Tumor/Normal (cancer treatment) Liquid Biopsy (recurrence monitoring) NIPT (prenatal screening) Patient Electronic Medical Record Patient Genome Database Age EMR Integration
  18. 18. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y Genomics England 100,000 Genome Project World’s First National Scale Genome Sequencing Effort Driven directly by the Prime Minister £300M investment 100,000 whole human genomes by 2017 Cancer and rare disease 40K patients directly impacted NHS goal to tightly-couple genomics to healthcare All sequencing on Illumina Xten instruments
  19. 19. Market-based solutions AnswerSample Prep Sequence
  20. 20. SPAdes Novo Align Advaita DNA Star Pedant AB SCIEX AB SCIEX AB SCIEX DeepCheck HIV,HBV,HCV SWATH Atlas n of One My FLQ TUTE Lo Feq eGB Genomatix Genome Profiler Melanoma Profiler OncoMD GeneTalk PathGEN Dx 3rd Party Apps 16S Metagenomics TopHat Alignment Cufflinks Assembly & DE RNA Express Variant Studio BWA Enrichment Isaac Enrichment BWA WGS Isaac WGS Broad IGV TruSeq Amplicon Amplicon DS Tumor Normal Long Read Assembly Long Read Phasing Illumina Core Apps Prokka MetaPhlAn BaseSpace Labs Apps FastQC Kraken Metagenomics NextBio Annotates VCAT Fastq Toolkit Velvet Assembly Picard Space SRA Importer NextBio Transporter SRST2 Cosmos ID EDGC
  21. 21. Runs Uploaded to BaseSpace Runs 3,000 Instruments >125,000 Customer runs uploaded >4,500 Active users >50 Apps 39,000 App launches
  22. 22. Thank You

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