enabling new markets for growth - illumina, inc....of illumina, inc. all other brands and names...
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© 2013 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.
Enabling New Markets for Growth
Empowering the Genomics Revolution
2013 NGS User Forum Tokyo, Japan
June 27, 2013
Peter Fromen Sr. Director, Product Marketing &
Market Development
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Technology Revolutions
Industrial Revolution 1750 Maximise Production
Digital Revolution 1950 Maximize Intellectual Output Biological Revolution 2003 Maximise Biological Output
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From: Venturebeat.com, 1/27/13 commenting on the 12/24/12 Time magazine cover story
“We are at an inflection point.”
“…Companies to watch: Illumina.”
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Lancet Infect Dis.: E-pub ahead of print
Outbreak Monitoring & Public Health
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Microbiology & Food Pathogen Testing
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Metagenomics & Environmental
The benefits of shotgun metagenomics and metatranscriptomics
Single cell genome sequencing of unculturable organisms
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NextGen Forensics
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Cancer Research & Treatment
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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
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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 of Stephen Kingsmore, Children’s Mercy Hospital, Kansas City
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The Platform of Choice for High Impact Studies
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We are in the very early phases of a transformative period
A View on Current State
Genetics Cancer
Consumer
Reproductive Health Forensics
BioPharm
Infectious Disease Agriculture
Research 40%
30%
10%
5%
10%
30%
20%
30%
5%
0
% penetration
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We are in the very early phases of a transformative period
Essential to continue to drive down sequencing costs (true total costs)
A View on Current State
http://www.genome.gov/sequencingcosts/
Sanger Sequencing
HiSeq Systems
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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
A View on Current State
Sample Prep Sequencing Analysis
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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
A View on Current State
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Customer Driven Development
Gen
eric
Tec
hnol
ogy
Customer
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Dx Diagnostics
(IVD) Molecular Biology
and PCR Genomic Solutions
Translational & Consumer Genomics
Business Unit Structure
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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
Molecular Biology & PCR Business Unit
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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
Genomic Solutions Business Unit
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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
Translational & Consumer Genomics Business Unit
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Translational & Consumer Genomics Business Unit TrūSight Clinical Panels
TruSight Tumor
Familial Cancer
Clinical Exome
Cardio-myopathy
Autism
Inherited Disease
48 genes ~100 genes ~3000 genes ~80 genes ~100 genes ~300 genes
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TruSight Tumor Workflow Go from Extracted Genomic DNA to Data in Two Days with the MiSeq System
► 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
Pre-Screen Samples Assay Biochemistry Sequencing and Analysis
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Alignment and Variant
Calling Annotation Filtering/
Analysis Clinical
Interpretation Reporting
The Illumina Informatics Workflow
MiSeq Reporter or HiSeq Analysis
Illumina Annotation and Filtering Tool
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TG Consumables Increased Productivity; Reduced Operational Costs
TG parts are shipped with a minimum of 6-months shelf life. Extended Shelf Life
TG parts are shipped with kits all from the same lot. Single Lot Shipments
TG parts provide at least a 6 month notice prior to discontinuation. Change Notification
License for use in life science applications. Life Sciences Rights*
Kit Lot Testing Lot Testing performed on all kit components together as a unit.
* Standard parts include a license only for research use purposes
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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
Diagnostics Business Unit
Dx
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Certifications and FDA Submissions Strong Partnership with the FDA
2010 2011 2012 2013
Apr, 2010 Veracode Factor V/II BeadXpress Cleared
Certifications
FDA Submissions
Jan, 2011 ISO13485 San Diego Singapore, ISO13485 Hayward
Sep, 2012 ISO13485 Eindhoven
Dec 20, 2012 MiSeqDx Platform
De novo 510(k) EU Launch 2013
Dec 22, 2012 MiSeqDx CF Assay 510(k) EU Launch 2013
Feb 2013 iScan instrument Infinium HD Cyto Abnormality De novo 510(k)
Mar, 2013 Verifi IVD Pre-submission
Dx
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Illumina’s Clinical Vision
Preconception
Carrier Screening
Cystic Fibrosis MiSeqDx
IVF
BlueGnome
Prenatal
Verinata
Cardio- vascular
Birth Death
$400K
Years
Health Care Costs
Cancer
Early Life
Autism Cardiomyopathy
Inherited Conditions
TruSight Panels
Cancer Mutation
Detection
TruSight Tumor Panel
Postnatal
Cytogenetics (Autism, Mental
Retardation, Dev. Delay)
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What Will the Technology Enable? Sequencing Alters the Landscape
1. Sequencing begins to directly save lives
2. Radical acceleration in rate of genomic discovery/insights
3. Tumor samples routinely sequenced and become Standard of Care
4. Nations begin sequencing their populations
5. Complete human sequence under $1000
6. Infants routinely sequenced at birth
7. Cancer “succumbs” to new technology tools
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Time Frame (years)
Human Health
Genetics
Infectious Disease
Research Reproductive Health
Forensics
Consumer
Cancer
BioPharm
Agriculture
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Thank You