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“Translational Biomedical Informatics 2010: Infrastructure and Scaling”Brian  Athey and the NCIBI and CTSA Teamsbleu@mich.edu and NCIBI.org Center for Computational Medicine and Bioinformatics  Michigan Institute for Clinical and Health Research University of Michigan
Vision of  Biomedicine as an Information Science: Key Components ,[object Object]
 Powerful computational methods
 Effective linkages with better environmental, dietary, and behavioral datasets for eco-genetic analyses
 Credible privacy and confidentiality protections in research and clinical care
 Breakthrough tests, vaccines, drugs, behaviors, and regulatory actions to reduce health risks and cost-effectively treat patients globally.Omenn and Athey, 2010
Integrating High-Throughput Measurements with the Phenotype is Key
Disease Specific View: Prostate Cancer ProgressionIntegration Strategy Chris Maher, Jim Cavalcoli, and Gil Omenn
Models we Must Consider (with IT Implications elaborated upon) Eric E. Schadt  “Molecular networks as sensors and drivers of common human diseases”. (2009). Nature 461, 218-223. doi:10.1038/nature08454
Bill Stead, IOM 2007
Bill Stead’s Proposed Solution to Enable Decision Support Bill Stead, IOM 2007
Scope of Applications in CTSA InformaticsWe must focus on the elements in Red **Interoperability with Institutional EHR Systems Clinical transaction systems Clinical Data Repository (CDR) De-identification/Honest Brokering Tools to Facilitate Extracting/Downloading Data  Software tools CTSI Portals, Research Networks, and Resource Directories **Clinical Trial/Study Databases **Genomic, Proteomic, and Metabolomic High-Throughput Data Repositories and Analysis Tools Clinical Imaging Data Repositories and Analysis Tools **An Institutional Specimen Tracking System--Biorepository A CTSA Core Lab LIMS (Laboratory Information Management System)  Population/Public Health Databases & Informatics Needs **Standards to promote Interoperation within and between CTSA sites Informatics Teaching & Training (Interface with CTSA Education Program) Biomedical Informatics Research in Support of C&T Research Faculty, Staff, and Administrative Structure for Biomedical Informatics **Indicates MICHR/CTSA Priorities CTSA Informatics Consortium Operations Committee Bill Hersh (OSHU) and Brian Athey (UMICH), co-chairs. 2007
Motivation: Data Aggregation, Integration, Analysis, and Visualization as a Creativity and Productivity Engine
UMHS Clinical Research Enterprise Landscape—Yours too! Major Missing Piece— Basic and Clinical Research Data Management Software to Support Analysis Billing Compliance CCC CTMS (e.g. RedCap) EMR (e.g. Epic) Enterprise Information Warehouse (Architecture) Inpatient EMR & Ancillary Systems eIRB (Click Commerce) Critical Challenges: ,[object Object]
  Temporality
  DistributionAfter P. Payne, OSUMC
Supporting Personalized Healthcare is Beyond Just an EHR: Translational Biomedical Knowledge Creation ,[object Object]
 Technologies
 Algorithms
 Gender
 Ethnicity
 Age
 Weight
 Diagnosis
 Medical History
 Literature
 Databases

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Translational Biomedical Informatics 2010: Infrastructure and Scaling

  • 1. “Translational Biomedical Informatics 2010: Infrastructure and Scaling”Brian Athey and the NCIBI and CTSA Teamsbleu@mich.edu and NCIBI.org Center for Computational Medicine and Bioinformatics Michigan Institute for Clinical and Health Research University of Michigan
  • 2.
  • 4. Effective linkages with better environmental, dietary, and behavioral datasets for eco-genetic analyses
  • 5. Credible privacy and confidentiality protections in research and clinical care
  • 6. Breakthrough tests, vaccines, drugs, behaviors, and regulatory actions to reduce health risks and cost-effectively treat patients globally.Omenn and Athey, 2010
  • 7. Integrating High-Throughput Measurements with the Phenotype is Key
  • 8. Disease Specific View: Prostate Cancer ProgressionIntegration Strategy Chris Maher, Jim Cavalcoli, and Gil Omenn
  • 9. Models we Must Consider (with IT Implications elaborated upon) Eric E. Schadt “Molecular networks as sensors and drivers of common human diseases”. (2009). Nature 461, 218-223. doi:10.1038/nature08454
  • 11. Bill Stead’s Proposed Solution to Enable Decision Support Bill Stead, IOM 2007
  • 12.
  • 13. Scope of Applications in CTSA InformaticsWe must focus on the elements in Red **Interoperability with Institutional EHR Systems Clinical transaction systems Clinical Data Repository (CDR) De-identification/Honest Brokering Tools to Facilitate Extracting/Downloading Data Software tools CTSI Portals, Research Networks, and Resource Directories **Clinical Trial/Study Databases **Genomic, Proteomic, and Metabolomic High-Throughput Data Repositories and Analysis Tools Clinical Imaging Data Repositories and Analysis Tools **An Institutional Specimen Tracking System--Biorepository A CTSA Core Lab LIMS (Laboratory Information Management System) Population/Public Health Databases & Informatics Needs **Standards to promote Interoperation within and between CTSA sites Informatics Teaching & Training (Interface with CTSA Education Program) Biomedical Informatics Research in Support of C&T Research Faculty, Staff, and Administrative Structure for Biomedical Informatics **Indicates MICHR/CTSA Priorities CTSA Informatics Consortium Operations Committee Bill Hersh (OSHU) and Brian Athey (UMICH), co-chairs. 2007
  • 14. Motivation: Data Aggregation, Integration, Analysis, and Visualization as a Creativity and Productivity Engine
  • 15.
  • 17. DistributionAfter P. Payne, OSUMC
  • 18.
  • 33. ProteinsIntegrated EHR 10/14/2010 After P. Payne, OSUMC
  • 34. Biomedical Informatics View of ITData Warehouse 101 13 Operational Management (Historical. e.g. quality, billing, reporting etc.) Patient Care (Electronic Health Record) Biomedical Research External Organizations External Organizations Population Research Multiple Clinical Systems Trials Research Warehouse -De-Identification -Consents -Identity Management -Vocabulary Mapping Clinical Data Warehouse Clinical Data Repository Quality Reports Comparative Effectiveness Research Administration Systems ‘Omics Repository
  • 35. Data Warehouse 102 Syntax Alignment Collection Aggregation Entity Alignment Source Data Clinical Data Repository HSDW Patient Data Aggregation Operational Reporting systems EMAR EMR Billing Meds - Insulin EMAR Diagnosis – ICD9 Labs Billing Data Warehouse Environment Lab – A1C>9 Mapping/Pointers Claims Patient Diagnosis(part of the patient subject) Labs Ontologies, Coding, Integration Velos Integration Domain Alignment (complete semantic and syntactic alignment)
  • 36. Architecture today Privacy Walls Patient Care Systems Biomedical Research Reporting IRB HSDW HIPAA ICU Systems Financial Reporting Cohort Discovery Registration/ ADT OR Systems Public Reporting Patient Scheduling Hospital EMR Population Research Quality Data Warehouse (New) Departmental Applications Comparative Effectiveness Research Abstraction Transcription Health Services Research Clinical Data Repository (CDR) CPT Billing ICD-9 Non-Cancer Research Claims EMPI CommonRule Patient Health Record Cancer Research Genomic Research Imaging Ambulatory EMR Patient Recruitment Consent Clinical Trial Management System High Throughput ‘Omics LIS Lab Systems Tissue Bank Clinical Reporting Clinical Transactions Research Activities Research Transactions Coding Last Modified 5-14-2010
  • 37. High Level Conceptual Diagram—Future State Research Interface with the Clinical Record Common Specimen Identifier Services Terminology mapping systems Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Epic Legacy Epic Systems (Ambulatory Care, Emerg. Med, etc.) CareLink/ Eclipsys Ambulatory Research EDC Systems Careweb, Carelink - Eclipsys, etc. Research AdministrationSystems Research Adminis-trative Systems Clinical Research Electronic Data Capture Systems Next-Gen Sequencing Laboratory and Shared Facility Data Capture Disease-Specific Disease & Site specific data marts Emergency Med. Patient & Participant Portals, Health Information Exchanges, etc. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Note: Use of specific technologies not implied at this time Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Data Sharing with External Collaborators Health Sciences Library Resources International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 38. High Level Conceptual Diagram Research Interface with the Clinical Record Common Specimen Identifier Services Terminology mapping systems Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Epic Legacy CareLink/ Eclipsys Ambulatory Research EDC Systems Research AdministrationSystems Next-Gen Sequencing Disease-Specific Emergency Med. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Note: Use of specific technologies not implied at this time Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Data Sharing with External Collaborators Health Sciences Library Resources International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 39. High Level Conceptual Diagram Research Interface with the Clinical Record Common Specimen Identifier Services Data from structured clinical research activities, including phase 1, 2, and 3 clinical trials and various domain specific registries is fed via ETL or real time processes to the research data warehouse Terminology mapping systems Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Epic Legacy CareLink/ Eclipsys Ambulatory Research EDC Systems Research AdministrationSystems Next-Gen Sequencing Disease-Specific Emergency Med. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Note: Use of specific technologies not implied at this time Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Health Sciences Library Resources Data Sharing with External Collaborators International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 40. High Level Conceptual Diagram Research Interface with the Clinical Record Common Specimen Identifier Services Terminology mapping systems Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Data capture from biorepository, laboratory, core facility support systems feeds data to the Enterprise Research Data Warehouse. This allows us to capture data about cellular and molecular-scale phenotypes, and to integrate genomics and other ‘omic’-scale data. Epic Legacy CareLink/ Eclipsys Ambulatory Research EDC Systems Research AdministrationSystems Next-Gen Sequencing Disease-Specific Emergency Med. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Note: Use of specific technologies not implied at this time Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Health Sciences Library Resources Data Sharing with External Collaborators International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 41. High Level Conceptual Diagram Research Interface with the Clinical Record Research administration systems provide research billing data to the enterprise data warehouse. Integration of clinical and research billing is now possible at several levels Common Specimen Identifier Services Terminology mapping systems Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Epic Legacy CareLink/ Eclipsys Ambulatory Research EDC Systems Research AdministrationSystems Next-Gen Sequencing Disease-Specific Emergency Med. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Note: Use of specific technologies not implied at this time Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Health Sciences Library Resources Data Sharing with External Collaborators International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 42. High Level Conceptual Diagram Research Interface with the Clinical Record Common Specimen Identifier Services Terminology mapping systems Epic/Clarity clinical data warehouse captures clinical phenotypes and time series care events. Data from Clarity and legacy CDR is fed to Research Data Warehouse for analytic, clinical research, and translation research support. Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Epic Legacy CareLink/ Eclipsys Ambulatory Research EDC Systems Research AdministrationSystems Next-Gen Sequencing Disease-Specific Emergency Med. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Note: Use of specific technologies not implied at this time Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Health Sciences Library Resources Data Sharing with External Collaborators International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 43. High Level Conceptual Diagram Research Interface with the Clinical Record Common Specimen Identifier Services Terminology mapping systems Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Epic Legacy Example Scientific Use case: “Show me all HER2+ Br Ca patients who have received Herceptin, are consented for research use of tissue, and who have banked DNA and needle aspirates” CareLink/ Eclipsys Ambulatory Research EDC Systems Research AdministrationSystems Next-Gen Sequencing Disease-Specific Emergency Med. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Note: Use of specific technologies not implied at this time Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Data Sharing with External Collaborators Health Sciences Library Resources International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 44. Ex: “Show me all HER2+ Br Ca patients who have received Herceptin…” High Level Conceptual Diagram Research Interface with the Clinical Record Common Specimen Identifier Services Terminology mapping systems Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Epic Legacy CareLink/ Eclipsys Ambulatory Research EDC Systems Research AdministrationSystems Next-Gen Sequencing Disease-Specific Emergency Med. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Addressing this use case may require data from all of the systems shown in red… Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Data Sharing with External Collaborators Health Sciences Library Resources International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 45. Ex: “Show me all HER2+ Br Ca patients who have received Herceptin…” High Level Conceptual Diagram Research Interface with the Clinical Record Common Specimen Identifier Services Terminology mapping systems Transactional Research Systems Analytic Research Systems Laboratory Research/ ‘Omics’ Clinical POC systems Patient , Participant & Provider Facing Systems Epic Legacy CareLink/ Eclipsys Ambulatory Research EDC Systems Research AdministrationSystems Next-Gen Sequencing Disease-Specific Emergency Med. Pharmacy Revenue Cycle RedCAP ChIP-Seq Demographics Patient & Participant Portal(s) Assay-Specific ClickCommerce (IRB) Pathology Velos Organ Systems Metabolomics Scheduling Radiology Population-Risks OpenCLinica eThority (billing) Proteomics Nursing Docs Qual/Outcomes Biorepositories Health Information Exchange Epic Clarity Research Data Warehouse CDR Ideally, however, the data has been stored in the enterprise research data warehouse, and only the following systems come into play in real time to answer the investigators query. Honest Broker & Security Infrastructure Messaging Bus & ETL Services Terminology Resources (ICD-10, caDSR, SNOMED, etc.) External Resources (PubMed, GenBank, KEGG, GO, etc.) Data Sharing with External Collaborators Health Sciences Library Resources International Cohort Discovery & Data Mining Genomics data workbench(es) caBIG CTSAs TCGA
  • 46. NCIBI/i2b2 Demo Scenario April 2009 … in patient data… Diagnostic Categories Drag/Drop … in Term Navigator… ICD9 to Gene Plugin (new) … in other contexts… ICD9 to Gene Service (new) NCIBI Databases Related genes
  • 47. NCIBI/i2b2 Tool Integration and Scaling Concept Adding in Cytoscape >Cytoscape!
  • 48. HIT-Enabled Health ReformAchieving Meaningful Use 2009 2011 2013 2015 HIT-Enabled Health Reform Meaningful Use Criteria HITECH Policies 2011 Meaningful Use Criteria (Capture/share data) 2013 Meaningful Use Criteria (Advanced care processes with decision support) 2015 Meaningful Use Criteria (Improved Outcomes) 27
  • 49. The “other” informatics… Consumer Health Informatics Bioinformatics Clinical Informatics Courtesy, Larry An
  • 50. Sweet Spot Science Bioinformatics Consumer Health Informatics Personalized Clinical Trial Recuitment Tailored Biobank Consent Remote Patient Monitoring for Protocol and Medication Adherence Cohort Discovery and Data Collection Cancer Survivorship Comparative-Effectiveness Research Clinical Informatics Courtesy, Larry An
  • 51. Sweet Spot Science Bioinformatics Consumer Health Informatics Personalized Clinical Trial Recruitment Eligibility Analysis (MICHR, Bioinformatics) MCancer Survey (CCOG, Team Leads 1-7) Clinical trial awareness, offers Registry interest Culturally Sensitive Online Clinical Trial Education (Go-Miami, Hawley)Courtesy, Larry An Clinical Informatics
  • 52. Special Thanks NCIBI Program Officer (PO) – Dr. Karen Skinner, NIDA NCIBI Lead Science Officer (LSO) – Dr. Jane Ye, NLM Director of Bioinformatics and Computational Biology Dr. German Cavelier, NIMH; NCIBI Science Officer Dr. Peter Lyster, NIGMS; Center for Bioinformatics and Computational Biology Director, Center for Bioinformatics and Computational Biology, NIGMS; Dr. Karin Remington Elaine Collier, NCRR NIGMS/NIDA U54-DA-0215191 UL-1RR024986/NCRR CTSA