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Interpretation Tool for Genomic Sequencing Data in Clinical Environments

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The healthcare industry—with its huge volumes of big data—is ripe for the application of analytics and machine learning. In this webinar, Hortonworks and Quanam present a tool that uses machine learning and natural language processing in the clinical classification of genomic variants to help identify mutations and determine clinical significance.

Watch the webinar: https://hortonworks.com/webinar/interpretation-tool-genomic-sequencing-data-clinical-environments/

Publié dans : Technologie
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Interpretation Tool for Genomic Sequencing Data in Clinical Environments

  1. 1. 1 © Hortonworks Inc. 2011–2018. All rights reserved Quanam & GenLives Customer Webinar Interpretation tool for Genomic Sequencing Data in Clinical Environments
  2. 2. 2 © Hortonworks Inc. 2011–2018. All rights reserved • 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
  3. 3. 3 © Hortonworks Inc. 2011–2018. All rights reserved 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
  4. 4. 4 © Hortonworks Inc. 2011–2018. All rights reserved 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.
  5. 5. 5 © Hortonworks Inc. 2011–2018. All rights reserved 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
  6. 6. 6 © Hortonworks Inc. 2011–2018. All rights reserved 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
  7. 7. 7 © Hortonworks Inc. 2011–2018. All rights reserved • 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
  8. 8. 8 © Hortonworks Inc. 2011–2018. All rights reserved • 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
  9. 9. 9 © Hortonworks Inc. 2011–2018. All rights reserved Diagnosis and Prevention Background
  10. 10. 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
  11. 11. 1 1 © Hortonworks Inc. 2011–2018. All rights reserved Data Analysis Background Pathogenic Probably pathogenic Probably benign Benign Uncertain significance ?
  12. 12. 1 2 © Hortonworks Inc. 2011–2018. All rights reserved • 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
  13. 13. 1 3 © Hortonworks Inc. 2011–2018. All rights reserved 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
  14. 14. 1 4 © Hortonworks Inc. 2011–2018. All rights reserved •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
  15. 15. 1 5 © Hortonworks Inc. 2011–2018. All rights reserved Technology Stack MyATGC
  16. 16. 1 6 © Hortonworks Inc. 2011–2018. All rights reserved Variant Pathogenicity Calculation
  17. 17. 1 7 © Hortonworks Inc. 2011–2018. All rights reserved
  18. 18. 1 8 © Hortonworks Inc. 2011–2018. All rights reserved Literature Search
  19. 19. 1 9 © Hortonworks Inc. 2011–2018. All rights reserved
  20. 20. 2 0 © Hortonworks Inc. 2011–2018. All rights reserved Conversational Interface
  21. 21. 2 1 © Hortonworks Inc. 2011–2018. All rights reserved • ~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
  22. 22. 2 2 © Hortonworks Inc. 2011–2018. All rights reserved • Now working with first prospects • Regionalization to Latam • Leverage new HDP & HDF developments • Data governance • Extended data ingestion MyATGC Vision for Future
  23. 23. 2 3 © Hortonworks Inc. 2011–2018. All rights reserved 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
  24. 24. 2 4 © Hortonworks Inc. 2011–2018. All rights reserved Question and Answer Session
  25. 25. 2 5 © Hortonworks Inc. 2011–2018. All rights reserved Thank You

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