Translational & Interoperable Health Infostructure - The Servant of Three Masters

Transcription

1 Translational & Interoperable Health Infostructure - The Servant of Three Masters Amnon Shabo (Shvo) PhD Haifa research 26th Annual EuroMeeting March 2014 ACV, Vienna Austria

2 Disclaimer The views and opinions expressed in the following PowerPoint slides are those of the individual presenter and should not be attributed to Drug Information Association, Inc. ( DIA ), its directors, officers, employees, volunteers, members, chapters, councils, Special Interest Area Communities or affiliates, or any organization with which the presenter is employed or affiliated. These PowerPoint slides are the intellectual property of the individual presenter and are protected under the copyright laws of the United States of America and other countries. Used by permission. All rights reserved. Drug Information Association, DIA and DIA logo are registered trademarks or trademarks of Drug Information Association Inc. All other trademarks are the property of their respective owners.

3 Agenda Challenges Translational Health Info-structure (THIS) Translational Health Information Language Clinical Genomics Statement Interoperable THIS systems Independent Health Record Banks

4 Challenges Trial & error Case-based (tacit) knowledge Humans DATA Individual s Data Fragmentation KNOWLEDGE We don t know much more than we know Decision making Is hard! Machines Health Record Banking Sustainability The case is the lifetime EHR Case-based reasoning 4

5 Translational Health Info-structure (THIS) P r i v a c y & S e c u r i t y Biomedical Analytics New knowledge, preferably standardized Data mining Images (e.g., DICOM) Study Analysis Mass & Raw Data Enrich & Export Health Data Warehouse Common formats in optimized storage (cloud-enabled) Omics (e.g., VCF) Ontologies (e.g., HPO*) Information Marts (e.g., transmart) Sensors (e.g., IEEE) Load reference THIL* Encapsulate BI Analysis CGS*-based iehr* Clinical Data Templates (e.g., C-CDA*) HEALTHCARE Patient/subject data, preferably standardized Knowledge Analytics Hub Annotate Standards-based Data Transform Data Staging Repository (rules, guidelines, functions, algorithms, literature, evidences, insights, etc. ) (Curation, normalization, de-identification, standardization and integration) 5 Existing sources of knowledge * iehr Interoperable electronic health record * C-CDA Consolidated CDA common templates of clinical documents * DtC Direct-to-Consumer testings and monitoring, etc. * CGS Clinical Genomics Statement standard representation 5 * HPO Human Phenotype Ontology * THIL Translational Health Information Language Patient generated data and DtC* output data

6 *Glossary : next slide Towards a Translational Health Information Language (THIL) KNOWLEDGE Scientific Knowledge: Nanopublication Medical Terminologies: UMLS, epsos TAS & SemanticHealthNet Decision Support: Health edecisions (HeD) Raw & mass or research DATA provenance Research Metadata: ISA findings Omics Data: ipop Image Data: DICOM Device Data: Continua & IEEE Bubbleup Key Data Encapsulated or referenced reasoning reasoning Bridge Standards: (e.g., GTR, DIR, PHMR) utilization Point of Care DATA Compositional Syntax: HL7 Clinical Statement & CDA; openehr Clinical Data: SemanticHealthNet Constraining Syntax: 6 ADL; UML+OCL (MDHT) Profiling: IHE; openehr

7 THIL* Glossary Nano-publication structuring the narrative articles using a nanopublication format, which is the smallest unit of publication: a single assertion, associating two concepts by means of a predicate in machine-readable format with proper metadata on provenance and context ( HeD = The US ONC S&I Framework Health edecisions Initiative (HeD), developing CDS Services standards and CDS content for use as knowledge artifacts ( UMLS = Unified Medical Language System ( epsos TAS = Terminology Access Service ( ISA = Investigation Study Assay ( ipop = Integrative Personal Omics Profile ( GTR = Genetic Testing Report, developed by HL7 Clinical Genomics ( DIR = Diagnostic Imaging Report ( PHMR = Personal Healthcare Monitoring Report ( SemanticHealthNet = EC FP7 project, harmonizing major standards in health ( CDA = Clinical Document Architecture ( openehr = Open source for EHR, based on CEN EN13606 spec for EHR ( ADL = Archetype Definition Language ( UML = Unified Modeling Language ( OCL = Object Constraining Language ( IHE = Integrating the Healthcare Enterprise ( MDHT = Model-Driven Health Tool (open source, see ) * Translational Health Information Language (THIL) is discussed at the Translational Health Informatics Working Group of the European Federation of Medical Informatics (EFMI) 7

8 Clinical Genomics Statement Clinical Genomic Statement Indications Performers Omics Observation Specimen Associated Observations Genomic Source encapsulation Interpreted Key omics data Phenotypes Observed reference Raw omics data Specialize HL7 Clinical Statement model Aligned with HL7 Clinical Genomics* specs Used by the Genetic Testing Report (GTR) spec Note: GTR is based on constraining the HL7 Clinical Document Architecture (CDA) base standard * These specs are developed by the HL7 Clinical Genomics Work Group, with cooperation of the Structured Documents Work Group. 8

9 The THIS Landscape THIS Information Marts Analytics toolset over Workflow engine Clinical Decision Support THIS iehr (Extract) THIS Health Data Warehouse THIS Mass Raw Mass & Raw Mass & Raw Data Data Data reference Encapsulate Clinical & Environmental Data individuals iehr (Extract) ipop iehr independent systems EHR Summary Marts Biomedical Research Patient Data Warehouse Key raw data, encapsulated & traceable Clinical & Environmental Data 9 Healthcare Practice

10 Patient-Centric Health Record From medicine to health content Medical records time Longitudinal, possibly life long Longitudinal (possibly lifetime) EHR A single computerized entity that continuously aggregates and summarizes the medical and health records of individuals throughout their lifetime Genetic data Medical record Every authenticated recording of medical care (e.g., clinical documents, patient chart, lab results, medical imaging, personal genetics, etc.) Cross-institutional 10 Health record Any data items related to the individual s health (including data such as genetic, selfdocumentation, preferences, occupational, environmental, life style, nutrition, exercise, risk assessment data, physiologic and biochemical parameter tracking, etc.)

11 Meaningful Use of Health Record Topical data Genetic diseases Nonredundant data Sensitivities Diagnoses Medications etc. Summative Info Evidence Personal genetic variations, expression & translation Ongoing extraction and summarization Temporal Data Medical records: charts, documents, lab results, imaging, etc. 11

12 e.g., UK Centrality in EHR Sustainability Models e.g., Israel Government Centric Provider Centric Big brother e.g., USA HIEs Non-Centric: Independent EHR Banks (IHRB*) Partial data e.g., MS HealthVault Regional Centric Consumer Centric Non-reliable Limited Data * * IHRB is discussed in the IMIA (International Medical Informatics Association) Working Group on HRB 12

13 The Conceptual Transition Operational IT Systems Provider Archive- Medical Records Patient Operational IT Systems Provider Individual Operational IT Systems Provider Archive- Medical Records Standard-based Communications Independent Health Records Bank Provider Independent Health Records Bank Standard-based Communications Provider Operational IT Systems Archive- Medical Records New Legislation 13 Operational IT Systems Current constellation New constellation

14 The EHR Main Production Cycle Also for clinical trials! 1. Healthcare Provider receives the current EHR from the patient s IHRB Healthcare Providers Provides care to the patient 3. Sends medical records back to the patient s IHRB 4. EHR is updated Clinical & genomic Data 3 Health Consumers 4 Independent Health Records Banks Current EHR 14

15 Main Principles of IHRB The medico-legal copy of a medical record resides solely in an IHRB An IHRB must be independent of healthcare providers, health insurers, government agencies, or any entity that may present a conflict of interests An IHRB must function as an objective entity, serving all stakeholders An IHRB is the custodian of its customers EHRs, thus avoiding the need for the sensitive definition of EHR ownership Allow for multiple independent IHRBs, regulated by national (or international) regulators A consumer s EHR is identified by its IHRB account number, so there is no need for unique IDs at any level (regional, national or international) Authorized access to all parties; only ethical committees can limit patient access A consumer can move from one IHRB to another Holding multiple accounts is not recommended, however any attested medical record must reside in only one IHRB account 15

16 Main Benefits of IHRB Healthcare providers cut costs of long-term archiving for medical records Healthcare providers have a complete medical history of any patient requesting care Healthcare providers have EHR summative information that facilitates the intake of new patients The EHR might also include moderated self documentation and other sources of health data Multiple competing IHRBs will provide better services to all parties No need for unique IDs that might harm individual privacy Privacy is better protected as it is in the core of the IHRB activity; mitigates the unavoidable tension of privacy versus availability Based on proper patient consent, truly anonymized data could be made available to public health agencies, clinical research institutes, and pharma 16

17 IHRB Macroeconomics Healthcare Providers Archiving costs IHRB Healthcare Consumer Pay per amount of storage, transactions and services IHRB Health Insurers Health plans cover IHRB account charges Healthcare Consumer 17

18 The End Thanks for your attention! Questions? Comments: My roles: Chair, EFMI Work Group on Translational Health Informatics Chair, IMIA Work Group on Health Record Banking Co-Chair & Facilitator, HL7 Clinical Genomics Work Group Co-Editor, CDA (Clinical Document Architecture) R2 Standard Co-Editor, CCD (Continuity of Care Document) Standard Co-Editor, HL7 Pedigree (Family History) Standard Primary Editor, CDA GTR (Genetic Testing Report) 18