From Sequencer to Clinic: Managing Science and Scale

Sultan Meghi, Vice President of Product Strategy

World Genome Data Analysis SummitNovember 28, 2012

2AGENDA

Challenges Along the Path from Genomics Research to Personalized Medicine Implementing technology Implementing science Scaling from research to clinic

The Problem Restated…

What’s the most efficient, reliable and robust way to capture my genetic data, analyze it and secure it for re-analysis and deeper interpretation in a clinical setting?

Enabling Science at Scale Platform for big data Analytics framework for implementing science Flexible deployment

Overview

CUSTOMER NEEDS

Mega-scale data

management and data analysis.

Complex Pipeline

Development, Test &

Deployment.

Infrastructure costs,

complexity, security and compliance.

The Path from Genomics Research to Personalized Medicine

Accelerating the Science of Genetic Discovery for Researchers, Bioinformatics Specialists & Tool

Development.

Target:Clinicians

and Patients leveraging a dynamically expanding

field of science.

GovernmentFunding

3rd Party Payers

4Source: WSJ, NYT, Genome Medicine THE GENOMICS DATA PROBLEM

Overpowering need for genomic data analysis tools

“We can sequence the genome for dirt cheap, but we don’t know how to deal with the data.”

“How do we avoid the pitfall of having cheap human genome sequencing but complex and expensive manual analysis to make clinical sense out of the data?”

Eric Green M.D.,Ph.D. Director, NHGRI

Elaine Mardis Ph.D. Director of Technology Development

5THE BIG DATA CHALLENGE IN GENOMICS

“Big Data” is essentially large amounts of data

Multiple sources or data formats Unstructured or semi-structured Difficult to put into databases and analyze

Seen in other industry areas:

Genomics data is “Big Data”

Finance

Logistics

Geospatial

Defense

Telecom

6THE BIG DATA CHALLENGE IN GENOMICS

“Big Data” challenges in genomics

Source: Appistry proprietary market research by CBT Advisors

“Moving data around and storing the data is painful. It’s a huge problem for us. We’re looking at the cloud for processing options.” - Carol Rohl Ph.D., Director of Merck, Research Labs

“Bioinformatics tools and reference datasets change monthly, weekly and in some cases daily. This requires easy to manage application and data management platforms to keep up to date with all the changes.”

- Sultan Meghji, Appistry, GigaOM 2012

“Datasets are so large, you have to analyze them at the same site where the data is or using mirrors. You do not want to be writing it onto a remote hard drive and move the data each time you want to analyze it.” - John Monahan, Novartis Institutes for Biomedical Research

STORAGE

APPLICATIONS

COMPUTATION

7APPROACHES

Current solutions address challenges individually…

CLOUD STORAGE

ANALYTICS

USER-FOCUSED TOOLS

STORAGE

APPLICATIONS

COMPUTATION

8

Bewildering array of partial or overlapping solutions that may or may not get you there…

9WHY APPISTRY?

Private Cloud for Genomics enables Storage, Computation, Your Workflow & Science, Security & Compliance

CLOUD STORAGE

ANALYTICS

USER-FOCUSED TOOLS

10APPISTRY’S GENOMIC SOLUTION

Capabilities needed

Private Cloud Genomics Services (HIPAA

Compliance)

Automated Data Management and Storage Tightly Coupled to Analysis

Massively Scalable/Reliable Fabric for Algorithms, Tools

and Applications

Analytics Layer Simplifies the Build, Test and

Deployment of Analytic Pipelines

Industry Tools, Data Sets and YOUR Science

11

Step 1: Download Data From SequencerStep 2: Send Data to Storage via FTP or FedEx = 5+DaysStep 3: Access Stored Data + Open-Source AlgorithmsStep 4: Reprogram Algorithms for Infrastructure = MonthsStep 5: Upload algorithms + Data to StorageStep 6: Download Public Gene DatabasesStep 7: Reorganize Gene Database Info for InfrastructureStep 8: Upload Gene Database to StorageStep 9: Download All Stored DataStep 10: Run Algorithms on Sequence Data

AYRRIS PRODUCT

Current genomic data analysis is cumbersome and costly

Source: Appistry survey

Data from Sequencers

ATCGTATCGGC

ACTAATCGCTCGGCTATA

G Public Cloud

Public Gene Databases

Open-Source Algorithms

Costly Data Storage $

$

HIPAA Compliance?

User

1

2

3

3

5

7

8

4 9

10

For Each New Data Set: Repeat steps 1, 2, 9, 10For Each Open-Source Algorithm Update: Repeat steps 3-8

6

CLOUD WORKFLOW

Appistry Private Cloud for Genomics Workflow

12

Data from Sequencers

ATCGTATCGGC

ACTAATCGCTCGGCTATA

G

Appistry CourierOver HTTPS

HIPAA Compliant Genomics Cloud

Annotated Results & Visualizations

Ayrris PipelinesYour Science

Appistry Private Cloud

SNPs, Indels, Rare Variants, etc

Data Center and Researcher

Consumption of Results by internal Bioinformaticians and Clinicians

Appistry CourierOver HTTPS

SFTP Transfer

13BUSINESS MODEL

Cloud-based genomic data analysis and storage

Subscription to Appistry’s secure, HIPAA compliant cloud storage

Design and Implement the Solution for Cloud-based Use, Within Your Own Data Center or Both (‘Cloud-Bursting’) – Same Science, Same Workflow

On-site modular turn-key hardware and software

Enterprise-level implementation of private network HIPAA-enabled storage

APPISTRY CLOUD APPISTRY APPLIANCE

via INTERNET

INSTITUTION

Same access to pipeline analysis algorithms & annotations (Same Science)

Same underlying technology and efficiency

CLOUD WORKFLOW

Integrate within broader Healthcare Perspective

14

Data from Sequencers

ATCGTATCGGC

ACTAATCGCTCGGCTATA

G

Regulatory Compliant

Genomics Cloud

Annotated Results & Visualizations

Ayrris PipelinesYour Science

Appistry Private Cloud

Data from other instruments

Integrated with Medical Data –

EMR, Biller/Payer

Integrated with Research Data

Systems (Genomics, Pharma)

Secured, Integrated Workflows, Data Management

and Analysis

15APPROACHES

Democratization is the solution for “big data” – Appistry is the solution for genetic data

iTunes

“DEMOCRATIZATION” OF DATA

Internet Data

Music Digital Video

Books Genomic Data

16

And, in the future the ability to make decisions from genomic information will be possible for everyone

7 BILLION

Breast cancerOsteoporosisLung cancerHeart disease

AutismLeukemiaADHDGenetic disorders

Decisions for prevention or early treatment

Genomic Information

Thanks for Your Attention

main: 314.450.5720fax: 314.450.5722sultan@appistry.com

appistry.com1141 South 7th St., Suite 300St. Louis, MO 63141