Enabling New Markets for Growth Empowering the Genomics Revolution

Transcription

1 Enabling New Markets for Growth Empowering the Genomics Revolution Peter Fromen Sr. Director, Product Marketing & Market Development 2013 NGS User Forum Tokyo, Japan June 27, 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 Technology Revolutions Biological Industrial Digital Revolution Maximize Maximise Maximise Intellectual Biological Production Output 2

3 We are at an inflection point. Companies to watch: Illumina. From: Venturebeat.com, 1/27/13 commenting on the 12/24/12 Time magazine cover story 3

4 Outbreak Monitoring & Public Health Lancet Infect Dis.: E-pub ahead of print 4

5 Microbiology & Food Pathogen Testing 5

6 Metagenomics & Environmental The benefits of shotgun metagenomics and metatranscriptomics Single cell genome sequencing of unculturable organisms 6

7 NextGen Forensics 7

8 Cancer Research & Treatment 8

9 Non-Invasive Prenatal Testing T21 Down syndrome T18 Edwards syndrome T13 Patau syndrome XO Turner syndrome XXX Triple X XXY Klinefelter syndrome XYY Jacobs syndrome 9

10 Rapid Diagnosis of Newborns HiSeq 2500 WGS from DNA to Disease in ~50hrs Neonate at 5 mo - developmental regression & seizures Samples prepared, sequenced and analyzed (HiSeq 2500) Identified novel variant in gene linked to copper metabolism Confirmed diagnosis of Menkes disease Courtesy 10 of Stephen Kingsmore, Children s Mercy Hospital, Kansas City

11 The Platform of Choice for High Impact Studies 11

12 A View on Current State We are in the very early phases of a transformative period % penetration Consumer 10% Cancer 5% Genetics 30% Reproductive Health 10% 0 Forensics 20% Agriculture 30% Infectious Disease 30% Research 40% BioPharm 5% 12

13 A View on Current State We are in the very early phases of a transformative period Essential to continue to drive down sequencing costs (true total costs) Sanger Sequencing HiSeq Systems 13

14 A View on Current State We are in the very early phases of a transformative period Essential to continue to drive down sequencing costs (true total costs) Upstream & downstream processes to the sequencer need to become less of a bottleneck Sample Prep Sequencing Analysis 14

15 A View on Current State We are in the very early phases of a transformative period Essential to continue to drive down sequencing costs (true total costs) Upstream & downstream processes to the sequencer need to become less of a bottleneck Educating clinicians, doctors, regulators, and ultimately patients is essential to responsibly broadening use of NGS 15

16 Customer Driven Development Generic Technology Customer 16

17 Business Unit Structure Dx Molecular Biology and PCR Genomic Solutions Translational & Consumer Genomics Diagnostics (IVD) 17

18 Molecular Biology & PCR Business Unit Customer Focus: Research Applied Markets Assay development for emerging sequencing applications and methods eg. Nextera RNA & Regulation Purification, isolation assays Ezymes & Proteomics Internal development for existing kit components Novel or emerging products qpcr NuPCR assays for low complexity GEx ECO System 18

19 Genomic Solutions Business Unit Customer Focus: Basic Research Translational Research Applied Markets Emerging Markets Develops all major technology platforms Sequencing systems Core Sequencing chemistry and FC technology Sequencing sample prep Microarrays and Array Systems Primary & Secondary bioinformatics solutions BaseSpace Focused on system development and end-to-end solutions to enable robust workflows Extend to market specific needs 19

20 Translational & Consumer Genomics Business Unit Customer Focus Translational/Clinical Labs Consumer Focus on enabling LDT solutions for clinical labs Targeted content sets Optimized reagents set Clinical market education on NGS and genomic utility Understand Your Genome Enabling Clinical Informatics MyGenome, GeneInsight, Nexus Copy Number, VariantStudio Enable custom array content into Consumer Genomics 23andMe, Ancestry.com, Family Tree 20

21 Translational & Consumer Genomics Business Unit TrūSight Clinical Panels TruSight Tumor Familial Cancer Clinical Exome Cardiomyopathy Autism Inherited Disease 48 genes ~100 genes ~3000 genes ~80 genes ~100 genes ~300 genes 21

22 TruSight Tumor Workflow Go from Extracted Genomic DNA to Data in Two Days with the MiSeq System Pre-Screen Samples Assay Biochemistry Sequencing and Analysis Extract DNA from FFPE qpcr QC and DNA titration Amplicon-based library prep Content developed in partnership with experts 7 hours DNA library prep 2.5 hours Hands on time 2 x 121 PE Sequencing Run 22 hours Somatic Variant Calling Filtering and Annotation 22

23 The Illumina Informatics Workflow Alignment and Variant Calling Annotation Filtering/ Analysis Clinical Interpretation Reporting MiSeq Reporter or HiSeq Analysis Illumina Annotation and Filtering Tool 23

24 TG Consumables Increased Productivity; Reduced Operational Costs Kit Lot Testing Lot Testing performed on all kit components together as a unit. Extended Shelf Life TG parts are shipped with a minimum of 6-months shelf life. Single Lot Shipments TG parts are shipped with kits all from the same lot. Change Notification TG parts provide at least a 6 month notice prior to discontinuation. Life Sciences Rights* License for use in life science applications. * Standard parts include a license only for research use purposes 24

25 Diagnostics Business Unit Customer Focus: Clinical Labs Regulated products 510k, CE/IVD Reproductive Health Blue Gnome Acquisition for IVF - PGS/PGD development Verinata NIPT market Cytogenetics Pre & Post Natal screening and Dx Hematological malignancies Regulatory Submissions Dx 25

26 Certifications and FDA Submissions Strong Partnership with the FDA Apr, 2010 Veracode Factor V/II BeadXpress Cleared Sep, 2012 ISO13485 Eindhoven Dec 22, 2012 MiSeqDx CF Assay 510(k) EU Launch 2013 Mar, 2013 Verifi IVD Pre-submission Certifications Jan, 2011 ISO13485 San Diego Singapore, ISO13485 Hayward Dec 20, 2012 MiSeqDx Platform De novo 510(k) EU Launch 2013 Feb 2013 iscan instrument Infinium HD Cyto Abnormality De novo 510(k) Dx FDA Submissions 26

27 Illumina s Clinical Vision Health Care Costs $400K Preconception Early Life Cardiovascular 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 TruSight Tumor Panel 27

28 What Will the Technology Enable? 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 28

29 Thank You 29