Genomic Information Revolution(s)

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1 Genomic Information Revolution(s) Scott D. Kahn, PhD Chief Information Officer 18 September Illumina, Inc. All rights reserved. Illumina, IlluminaDx, BaseSpace, BeadArray, BeadXpress, cbot, CSPro, DASL, DesignStudio, Eco, GAIIx, Genetic Energy, Genome Analyzer, GenomeStudio, GoldenGate, HiScan, HiSeq, Infinium, iselect, MiSeq, Nextera, NuPCR, SeqMonitor, Solexa, TruSeq, TruSight, VeraCode, the pumpkin orange color, and the Genetic Energy streaming bases design are trademarks or registered trademarks of Illumina, Inc. All other brands and names contained herein are the property of their respective owners.

2 Innovation is an Important Driver Continuous Reduction in Array and Sequencing Costs Sanger Sequencing HiSeq Systems 2

3 Accelerating Science Enabling More Discoveries and Faster Publication Total NGS Publications using Illumina Cancer WGS Publications using Illumina 3

4 Available Annotation, 1 Clinical Need, 2 Accuracy Revolution in Healthcare Requires Expansion of Knowledge % 100% % 16% 14% 12% 10% 8% 6% 4% 2% 98% 96% 94% 92% 90% % 99.98% 99.96% 99.94% 99.92% Sensitivity Specificity % Annotated SNPS % of clinical genomes 0% 99.90% Depth of coverage 1) Percentage of SNPs with annotation information from sources such as ENCODE 2) Percentage of all human genomes that are sequenced for clinical use (need for annotation and interpretation for utility) 4

5 Sequencing Will Be Ubiquitous in Many Markets % penetration Consumer 10% Cancer 5% Genetics 30% Reproductive Health 10% Forensics 20% Agriculture 30% Infectious Disease 30% Research 40% BioPharm 5% 5

6 Genomic Information Estimated Markets 2013 Over $12B Opportunity Applied Markets ~$1B Consumer Markets >$50M Reproductive Health ~$1B ~$4B Life Science Research ~$6B Clinical & Translational Improve human health by unlocking the power of the genome 6

7 Market Development Focus for Illumina Forensic genomics Microbiology Agrigenomics Genetic disease Cancer Reproductive health Market specific products and solutions driven by the voice of customer Define near- and long-term strategies by market Improved understanding of our customer base 7

8 High Impact Studies Seeking to Expand Knowledge 8

9 NGS Driven Clinical Vision Using Genomic Information to Manage Individual s Healthcare Health Care Costs $400K Cardiovascular Preconception Early Life Cancer Birth Years Death Carrier Screening Cystic Fibrosis MiSeqDx IVF BlueGnome Prenatal Verinata Postnatal Cytogenetics (Autism, Mental Retardation, Dev. Delay) Autism Cardiomyopathy Inherited Conditions TruSight Panels Cancer Mutation Detection, MRD TruSight Tumor Panel 9

10 Vision for Routine Sequencing in Healthcare How Will This Information be Used? Researcher Knowledge base Clinician Patient information Treatment choice Event Birth Biopsy Surgery Relapse Chemo Death Metastasis Relapse Timeline Sequencing 10

11 BaseSpace Creates Market Opportunities Accelerates Analysis and Sharing of Genomic Data App Space Medical History Scanned Charts Drugs & Immunization Diagnostic Images Electronic Medical Record Patient Schedule Genomic Data Reference Content Lab Data Public Databases 11

12 Genomics Empowered Healthcare Fast-Forward 5 Years Symptomatic Uninformed Patient Seeking Treatment Individual Diagnostic Test Electronic Medical Records Full Screen Healthy and Proactive Genetic Screen PERSONAL SEQUENCE (owned by individual) PGI id: Issued: 01 MAR 07 Recommended next check: 28 FEB 10 Next Diagnostic Test Cloud Standardized Mutation Database Validated Variant Clinically Validated Database Variant: C3 : 12,450,610 : T0.7/C0.3 : PPARG : Pro/Leu : Instant Access to PKx, Dx Informed Patient Real-Time Feed Medical consequence: Pharmacological consequence: Associated with severe insulin resistance, diabetes mellitus, hypertension Resistant to thiazolidinediones Research 12

13 What s In a Genome? Insight Into Many Questions Give insight into symptoms you have today Suggest symptoms/predispositions for your future Suggest conditions your children might be at risk for Guide drug choices As we learn how to ask, it will tell us more Then, we need to communicate it effectively To get there, we need more analytical tools, more community conversations, sharing of data, and reporting tools 13

14 A Deeper Complexity of Genomic Data Many Future Genomic Information Revolutions are Nascent 14

15 What Will the Future Hold? Sequencing Alters the Landscape Time Frame (years) Sequencing begins to directly save lives Radical acceleration in rate of genomic discovery/insights Tumor samples routinely sequenced and become Standard of Care Nations begin sequencing their populations Consumer Complete human sequence under $1000 Agriculture Cancer Infants routinely sequenced at birth BioPharm Genetics Cancer succumbs to new technology tools Forensics Infectious Disease Research Human Health Reproductive Health 15