Interpretation Tool for Genomic Sequencing Data in Clinical Environments

1 © Hortonworks Inc. 2011–2018. All rights reserved
Quanam & GenLives Customer
Webinar
Interpretation tool for Genomic Sequencing
Data in Clinical Environments

• Introduction
• Mission: Genlives and Quanam
• Background
• MyATGC Objectives
• MyATGC Challenges
• MyATGC Technology Stack
• Conversational Interface
• MyATGC Business Value (Results and Metrics)
• MyATGC Vision for Future
• Questions and Answers
Webinar Agenda

Healthcare Data Sources in the Connected Digital World…
Actionable Intelligence Makes Healthcare Precise and Personal
Patient
Records
Lab Data
Pharmacy
Data
Patient
Location
Wearables
Cyber Threat
Metadata
Clinical (EMR)
Data
Social Media
Patient
Satisfaction Data
Physician
Notes
Claims
Data
Sensor Data
Intra-
Network
Data
Call
Transcripts
SINGLE VIEW OF PATIENT REAL-TIME VITAL SIGN
MONITORING
BILLING & REIMBURSEMENTS EMR OPTIMIZATION SUPPLY CHAIN
OPTIMIZATION

Technology advances are making it possible for physicians to leverage
data and analytics like never before
Providers can make a health optimization recommendation to you based on…
• The latest clinical trials
• Your genomic makeup and family history
• The local, regional, national & International data about patients just like you
• The real-world health outcomes over time of every patient like you
• the level of your interest and ability to engage in your own care
They can then tell you within a specified range of confidence, which treatment has the
greatest chance of success for you.

To do this requires looking at one’s data sources to understand data
and analytics technologies help overcome data complexities BatchReal-time
Data velocity
Dimensional/Structured Behavioral/Unstructured
Data variety
Semi-structured
Environmental
data Electronic medical
records
Patient monitoring sensors: heart,
oxygen, breathing, brain, etc.
Lab slides
Physicians‘ notes
Lab notes
Medical bills
Physician‘s patient
transcriptions
Wave form processors
(EKG, EEG)
Public health
information
TPA invoices
Industry coding
Admin systems (resource
utilization, HR, etc.)
Insurance claim forms
Forms and
letters
Insurance claim
Financial data (billing, insurer fee
schedules, etc.)
Laboratory results
3rd party data
Lab tests
Source: Hortonworks Innovation and Strategy Team Analysis, Hortonworks Industry Solutions Team Analysis
Possible with EDW Itself
Possible with EDW plus
Surrounding Systems
Possible with Hortonworks’
Connected Data Platforms
Patient ProfilesPopulation data

Lucia Spangenberg
Genlives Director, Posdoc
at Pasteur Institut
Montevideo
- Helped develop telemedicine
platform to enable medical doctors the
use of genomic medicine.
- PhD in Computational Biology, BS and
MS in Bioinformatics
- Urugenomes -Uruguayan genome
project- CTO
Webinar Presenters
Fernando Lopez Bello
Business Analytics/Big Data,
Quanam
-Big Data and Cognitive Computing practice
leader. Applications specialist, having played
management, coaching and senior architect
roles.
-Experience in project implementations across
many different different infrastructures and
development frameworks.
- Bioinformatics master’s degree student.
Diana Yanez-Pastor
Marketing Director,
Customer Programs
Hortonworks
Cindy Maike
VP Industry
Solutions & GM –
Insurance and
Healthcare
Hortonworks

• Incubated at Institut Pasteur de Montevideo since 2015
• Team
• CEO PhD. Lucía Spangenberg
• CSO Dr. Med. Victor Raggio
• CFO Eng. Eduardo Spangenberg
• CTO Eng. Juan Pablo Banchero
• Mission: to democratize access to genomic medicine by promoting preventive and
diagnostics medicine
Genlives
Mission: Genlives and Quanam

• An Information Technology Company with 40 years of Knowledge and Experience
Specializing in consulting and management professional services and world class products.
• 40 years in business
• +400 employees
• 7 offices in Americas
• +600 Customers in 26 countries of America and Europe
• Business Analytics
• +80 consultants
• expertise range from traditional BI through Big Data, including Planning and Data Mining
• projects in the Americas and Europe
• Big Data & Cognitive Computing Team
• Mission: to enable customer business use cases grow in scale and complexity
• Implementations for several industries
Quanam
Mission: Genlives and Quanam

Diagnosis and Prevention
Background

1
0
© Hortonworks Inc. 2011–2018. All rights reserved
• better, faster and cheaper DNA
sequencing since 2005
• is now being applied to many fields,
including human genomics, e.g.
precision medicine
• huge amounts of data are being
generated (~300GB human genome)
• algorithms to handle these data are
currently being developed
Next Generation Sequencing
Background

1
1
Data Analysis
Background
Pathogenic
Probably pathogenic
Probably benign
Benign
Uncertain significance
?

1
2
• Several genetic references databases
• ClinVar, OMIM, dbSNP -to mention a few
• Daily stream of genetics related abstracts
• ~300/day only counting PubMed
• Terminology standardization efforts
• Snomed CT Ontology, localized for several countries
Databases and Literature Sources
Background

1
3
Idea conceived at ICT4V, and supported by ANII
• Develop a tool that assists in the clinical classification of genomic variants
• Assist in the determination of clinical significance using machine learning approaches
and Natural Language Processing tools
• Develop visualizations that allows clinical geneticist to make informed and robust
decisions on pathogenicity of variants.
Objectives
MyATGC

1
4
•The genome of each person has in average of ~4 million mutations. The majority of
them have no clinical relevance. Finding relevant mutations is not a trivial task.
•Millions of academic papers and clinical resources (doubles every year) demand specific
geneticist physician attention.
Challenges
MyATGC

1
5
Technology Stack
MyATGC

1
6
Variant Pathogenicity Calculation

1
7

1
8
Literature Search

1
9

2
0
Conversational Interface

2
1
• ~5 years from symptoms to diagnosis
• 30% children won’t live to see their 5th birthday
• Patients visits ~7 specialists before getting a diagnosis
Rare diseases
MyATGC Business Value (Results/Metrics)
Prevention
• Detect predisposition to diseases to improve prevention
• Save costs to health care system
In Both Cases
• Interpretation of variants: from several days to 1 hour
5 yrs 2 m
2 d 1 hr

2
2
• Now working with first prospects
• Regionalization to Latam
• Leverage new HDP & HDF developments
• Data governance
• Extended data ingestion
MyATGC Vision for Future

2
3
DATAPLANE SERVICE (DPS)
MANAGE, GOVERN, SECURE
DATA
LIFECYCLE
MANAGER
DATA STEWARD
STUDIO*
ISV
SERVICES
*not yet available, coming soon
EXTENSIBLE SERVICES
IBM DSX*CLOUD-
BREAK*
DATA
ANALYTICS
STUDIO*
CONNECTED DATA PLATFORMS
HORTONWORKS
DATA PLATFORM (HDP®) DATA-
AT-REST
HORTONWORKS
DATAFLOW (HDF™)
DATA-IN-MOTION
MODERN DATA USE CASES
HORTONWORKS
CONNECTION
ENTERPRISE SUPPORT
PREMIER SUPPORT
EDUCATIONAL SERVICES
PROFESSIONAL SERVICES
COMMUNITY CONNECTION
HORTONWORKS
PLATFORM SERVICES
OPERATIONAL SERVICES
SMARTSENSE™
Hortonworks Delivers Global Data Management for the Healthcare Industry
DATA
SOURCES
DATA CENTER CLOUD EDGE
Clinical Data
360 View of
Patient
Physician’s
Notes
Public Health
Data
Medical
Research
Patient
Vitals
PATIENT CARE
ELECTROJIC
MEDICAL RECORDS
CLAIMS
MANAGEMENT
POPULATION
HEALTH
PRECISION
MEDICINE

2
4
Question and Answer
Session

2
5
Thank You

Interpretation Tool for Genomic Sequencing Data in Clinical Environments

More Related Content

What's hot

Similar to Interpretation Tool for Genomic Sequencing Data in Clinical Environments

More from Hortonworks

Recently uploaded

Interpretation Tool for Genomic Sequencing Data in Clinical Environments