The document discusses Illumina's role in advancing precision medicine through next-generation sequencing and data analytics. It notes that while sequencing costs have decreased dramatically, challenges remain in interpreting, integrating, and analyzing the large volumes of genomic and other healthcare data. Illumina aims to develop comprehensive, patient-centric analytics platforms and knowledgebases to help address these challenges and enable more effective prevention, diagnosis, and treatment based on a patient's genetics, environment, and lifestyle. The success of these efforts will be measured by improvements in patient outcomes, healthcare costs and efficiencies, and changes in clinical practice guided by integrated genomic and clinical data analysis.

1. © 2015 Illumina, Inc. All rights reserved.
Illumina, 24sure, BaseSpace, BeadArray, BlueFish, BlueFuse, BlueGnome, cBot, CSPro, CytoChip, DesignStudio, Epicentre, ForenSeq, Genetic Energy, GenomeStudio, GoldenGate, HiScan, HiSeq,
HiSeq X, Infinium, iScan, iSelect, MiSeq, MiSeqDx, MiSeq FGx, NeoPrep, NextBio, Nextera, NextSeq, Powered by Illumina, SureMDA, TruGenome, TruSeq, TruSight, Understand Your Genome, UYG,
VeraCode, verifi, VeriSeq, the pumpkin orange color, and the streaming bases design are trademarks of Illumina, Inc. and/or its affiliate(s) in the US and/or other countries. All other names, logos, and
other trademarks are the property of their respective owners.
Turning Big Data
Into Smart Data
Brady Davis,
Sr. Director, Strategy & Market Development

2. 2
Advance research and make new
medical breakthroughs
– Gives insight into symptoms you
have today
– Suggests symptoms/predisposition
for your future
– Guides drug choices
– Suggests conditions your children
might be at risk for
Based on genetics, environment,
and lifestyle
The Precision Medicine Revolution
Better prevention, diagnosis, prognosis, and treatment

3. 3
2010 1st sub-10K genome$10,000
2007 1st NGS Genome$2,000,000
2003 Human Genome Project$3,000,000,000
2006 1st individual genome$20,000,000
2008 1st 30x genome$200,000
2014 1st $1,000 genome$1,000
Enabling Precision Medicine
Decreasing cost of sequencing

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Global NGS Activity

5. 5
Business Driver
Healthcare data will be big, real BIG
Omics
Sensor
Electronic Medical Record
Health Info Exchange
Personal Health Record
Claims
Social
Relative volume of healthcare-relevant
data for a given person

6. 6
Healthcare Needs a Comprehensive,
Patient-Centric View of Information
Individual
Therapy Adherence
Family Time
Value
Electronic Health
Information
Diet, Lifestyle
and Exercise
EnvironmentGenetics
Omics Data

7. 7
Informatics Barriers to Realizing the Promise
Immaturity
Interpretation
Integration
• DIY legacy
• Unprepared for scale
• Tedious curation
• Scarce geneticists
• Multiple point solutions
• Manual processes

8. 8
Infrastructure Maturity: Its “Back to the Future”

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The Interpretation Conundrum
“People to curate is the slow leg … it’s still largely manual”
Dr. Jason Merker, Stanford Hospital
3 billion
Base Pairs
1.5 million
Variants
1-10
Variants of Significance

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What Makes Informatics a Challenge
And an opportunity in the clinics
Diversity of of
genotypic/ phenotypic
data is daunting
Defined workflows
(mostly) do not exist
Lack of bioinformatics
resources
Underlying science
constantly evolving
Lack of budget
Balance of
security/privacy vs.
need to share
Drives the need for off-the-shelf
informatics solutions

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We need analytics that can answer the hard
questions like…
Challenge: Multiple Data Sources Make Producing
Usable Analytics Extremely Challenging
These questions may require data from many
source systems to be properly merged
CLINICAL
IMAGING
BILLING
CLAIMS
CENSUS/MARKET
CALL CENTER
BENCHMARK
GENOMICS
CLINICAL TRIALS
BIOBANKS
BASIC RESEARCH
ALLHOSPITALSAMC/LS
Many Data Silos
Data Integration
Challenging
Lots of Data – Few Insights
• How might the presence/absence of a given
variant guide my treatment decisions?
• How valuable are your samples?
• Is this patient a fast or slow metabolizer of drug
X, Y or Z?
• Do you know the cost associated with storing
samples if not accessed?
• 1 year
• 10 years
• 20 years
• By combining phenotypic & genotypic data with
a patient’s EMR, can we determine the best
therapeutic course?

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Challenge: Critical Healthcare Provider Information Is
"Unstructured" With Formats Not Addressable With
Current Tools
Data from many disparate
internal systems must be
merged & synthesized
Over 60% of useful data is
often housed in
unstructured data fields
External comparative &
demographic data sources
add more complexity
Content Systems,
Files, Email
Web & Social Media
Unstructured Data
Physician Notes
OLTP & ODS
Systems
Enterprise Applications
(Oracle, SAP, Others)
Data Warehouse
& Data Marts
Structured Data

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Challenge: Current Analytics Creation, Distribution & Consumption
Processes Are Highly Manual at Most Providers
Inefficient, expensive, inflexible processes
Multiple Data
Sources
Manual Data
Manipulation &
Report Distribution
Inconsistent Views
by Recipients, Lack
of Mobility
Genomics
Quality/
Outcomes
Other
Operational
Data
Patient
Accounting
Limiting knowledge workers from making timely decisions when and where they are
needed, reducing overall staff efficiency, and introducing compliance risks

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The Transformation of Healthcare Will Require
the Entire Value Chain to Evolve
Collaborating across the life sciences and healthcare industries
improves care, lowers costs and delivers greater value
R&D
Productivity
Translational
Medicine
Quality
& Safety
Personalized
Care
Participatory
& Preventive Care
Diagnostics
Pharma/Biotech
Medical Devices
Clinical
Research
Care
Delivery
Care
Management
Population/
Global Health
Value-based healthcare
Discovery
Research

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Our Vision
Advance human health by unlocking
the power of the genome
Advance human health by unlocking
the power of the genome

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Personal Experiences – How Far Have We
Come

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Healthcare From a Patient’s Perspective
Only a fraction of “treatments” are evidenced-based
It takes 10+ years for evidence to be widely adopted
Complete care is rendered only 50% of the time
We patients only adhere to our meds 50% of the time
Treatments result in adverse events and even death far too often
All of this is terribly expensive (and we are starting to pay for it)
And, the whole system is not designed by and for us, the patients!

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Contact
Time
Discharge Date
02-25-10
1 Week
03-04-10
1 Month
04-04-10
3 Months
07-04-10
5 Months
12-04-10
Patient’s Healthcare Experience
Patient Controlled
Knee/Hip Replacement Patients
4 1/2-hour appointments
Over 5 months time
0.00125% of patient’s healthcare experience

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Social Network Analysis of Whatcom Medicare
Care Transitions:
When Patients Transition Following Hospitalization Where Do They Go?
Data source: All FFS Medicare transitions from part A and part B claims data covering the period 1/1/2009 - 1/31/2010 .
Prepared by Qualis Health, the Medicare Quality Improvement Organization for Washington, under contract with the Centers for Medicare & Medicaid Services (CMS), an agency of the U.S. Department of Health and Human
Services. The contents presented do not necessarily reflect CMS policy.
The Most Central
Receiver of Data in
This Network is
The Home

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Better Health Through Patient Engagement
Source: World Health Organization – Social Determinants of Health, October 2011
Patient Engagement!
$ 3,000,000,000,000 / yr

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Photo credit:: David Hallet/The Press
Your Genomic Blueprint

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All Diseases have a Genetic Component
CancerInfectious
Complex Disease
“Genetics loads the gun and the
environment pulls the trigger”
– Francis Collins
Mendelian

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Drug-Centered Oncology Rx: Traditional Approach
The (One) Drug
▶ One drug… that is effective in a small fraction of patients…
▶ Requires a (single-target) CDx for each patient… to identify likely responders
The PatientsThe “Companion” Test (single-target)

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Precision Oncology Treatment
From companion diagnostics to precision medicine
The Patient Multi-target Test
Target 1
Target 2
Target 3
CRx
The Drug

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Data Mining
New Knowledge
Published LiteraturePatient Data (Public, Private)
Literature Curation
New Paradigm: Data-Driven Discovery
Data Standardization
My Population Knowledge
Global Knowledge
My Patient Populations
Global Patient Populations
Patient Knowledgebase Biomarker Knowledgebase
Clinical Translational Clinical Reporting

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Open Platform Enables Big Data Analytics for
Clinical Genomics
Illumina Platform
Optimized pipeline
or highly skilled
curation team for
ingesting public and
private genomic (&
clinical) data
Highly effective data
correlation engine –
millions of associations
and correlations
pre-computed
Advanced analytical
and visualization tools
offer a means of
exploration & analysis
by experts &
non experts alike
Knowledgebase
Provides annotation,
interpretation
drives report generation
APIs
Secure Data Center
Data Encryption
HIPAA Compliant

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We Aim to Achieve the Following…
Patient to answer in a standardized, integrated platform
LIS
EHR
Billing
Informed
clinical
decision
FDA
CMS
NCCN
CAP/CLIA
Stakeholders
aligned around a
standard
Specimen
processing
Library
preparation
Sequencing
analysis
Informatics

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Clinical evidence
– Patient outcomes
Health Economics
– Operational efficiencies of NGS
– Total costs to the system
Clinical impact through change in management behavior
– Courses of treatment, timing
– Testing
How Will We Know If We’re Succeeding?

29. © 2015 Illumina, Inc. All rights reserved.
Illumina, 24sure, BaseSpace, BeadArray, BlueFish, BlueFuse, BlueGnome, cBot, CSPro, CytoChip, DesignStudio, Epicentre, ForenSeq, Genetic Energy, GenomeStudio, GoldenGate, HiScan, HiSeq,
HiSeq X, Infinium, iScan, iSelect, MiSeq, MiSeqDx, MiSeq FGx, NeoPrep, NextBio, Nextera, NextSeq, Powered by Illumina, SureMDA, TruGenome, TruSeq, TruSight, Understand Your Genome, UYG,
VeraCode, verifi, VeriSeq, the pumpkin orange color, and the streaming bases design are trademarks of Illumina, Inc. and/or its affiliate(s) in the US and/or other countries. All other names, logos, and
other trademarks are the property of their respective owners.
Questions
Brady Davis,
Sr. Director, Strategy & Market Development