Presentation on theme: "Hl7 and the Clinical Genomics Work Group"— Presentation transcript:
1 Hl7 and the Clinical Genomics Work Group Mukesh SharmaWashington University in St. Louis
2 Agenda HL7 introduction Reference Information Model Clinical Genomics Work GroupClinical Genomics Work Group AccomplishmentsGene Expression DAMUpcoming ActivitiesUseful Links
3 Health Level 7HL7 was founded in 1987 and accredited in 1994 by the American National Standards Institute (ANSI).Health Level Seven (HL7), is an all-volunteer, not-for-profit organization involved in development of international healthcare standards.HL7 is also used to refer to some of the specific standards created by the organization (e.g., HL7 v2.x, v3.0, HL7 RIM) standardsSource:
4 What does the name mean?Health Level 7 symbolizes the seventh layer of the International Standards Organization (ISO) Communications Model:1. Physical: Connects the entity to the transmission media2. Data Link: Provides error control between adjacent nodes3. Network: Routes the information in the network4. Transport: Provides end-to-end communication control5. Session: Handles problems that are not communication issues6. Presentation: Converts the information7. Application: Provides different services to the applicationsSource:
5 Health Level 7HL7 and its members provide a framework (and related standards) for the exchange, integration, sharing, and retrieval of electronic health information.v2.x of the standards, which support clinical practice and the management, delivery, and evaluation of health services, are the most commonly used in the worldWork Group Meetings/Balloting Cycles3 times annuallyJanuary, May, September>700 members attend the meetings.Source:
6 Health Level 7HL7 is one of several American National Standards Institute (ANSI) -accredited Standards Developing Organizations (SDOs) operating in the healthcare arena.HL7 has been adopted by several national SDOs outside the U.S.36 countriesThese SDOs are not accredited by ANSI.ISO adopted HL7 as a centre of gravity in international standardization and accredited HL7 as a partnering organization for mutual issuing of standards.The first mutually published standard was ISO/HL :2006 Health informatics—HL7 version 3—Reference information model—Release 1Source:
7 What is the Reference Information Model (RIM)? The Reference Information Model (RIM) is the cornerstone of the HL7 Version 3 development process.It is a shared model between all the domains (clinical data) from which all domains create their messages.The RIM and the vocabulary domains are the bases for the semantic specification of message elements.Current version 2.3.1Available atGraphics in folder rim0231g
8 Infrastructure (communications) RIM v2.3.1EntitiesRolesActsInfrastructure (communications)Partic-ipationgraphics in package rim0231g
9 The HL7 Clinical Genomics (CG) Work Group Established as a SIG in 2003Mission To enable the standard use of patient-related genetic data such as DNA sequence variations and gene expression levels, for healthcare purposes (‘personalized medicine’) as well as for clinical trials & researchWork Products and Contributions to HL7 Processes The Work Group will collect, review, develop and document clinical genomics use cases in order to determine what data needs to be exchanged. The WG will review existing genomics standards formats such as BSML (Bioinformatics Sequence Markup Language), MAGE-ML (Microarray and Gene Expression Markup Language), LSID (Life Science Identifier) and other. This group will recommend enhancements to and/or extensions of HL7's normative standards for exchange of information about clinical genomic orders and observations. In addition, Clinical Genomics will seek to assure that related or supportive standards produced by other HL7 groups are robust enough to accommodate their use in both research and clinical care use. The group will also monitor information interchange standards developed outside HL7, and attempt harmonization of information content and representation of such standards with the HL7 content and representation.
10 CG Work Group Leadership (Co-Chairs) Joyce HernandezMerck & Co. Inc.Kevin Hughes MD Partners HealthCare System, Inc.Amnon Shabo, PhDIBMMollie Ullman-Cullere Partners HealthCare System, Inc.
11 Formal Relationships with Other HL7 Groups CG Work Group coordinates with a large number of other Work Groups in order to accomplish its mission. Strongest relationships are withOrders and ObservationClinical StatementClinical Decision SupportRegulated Clinical Research Information ManagementPatient CareElectronic Health RecordsModeling and MethodologyStructured Documents
12 Accomplishments Focus on V2 and V3 genetic and genomics data models V3 Genetic ModelsSingle Gene (Genetic Locus) Common Message Elements (CMET)Draft Standard for Trial Use – May 2005 (Revised May 2006)Multiple Gene (Genetic Loci) CMETDraft Standard for Trial Use – Jan 2007Unified Full Genetic Variation CMETDraft Standard for Trial Use – Jan 2008Normative – Jan 2010V3 Pedigree Topic - Family HistoryNormative – May, 2007
13 Accomplishments Genetic Variation V2 message Developed for clinical practice to carry findings from a lab to a physician, genetic councilor, etc.Subset of full V3 model, focus on interpretive, not raw (sequence) dataGenetic Variation V3 Reduced CMETCompanion to V2 messageGene Expression ModelIntended for V2 and V3 implementationDomain Analysis Model balloted Sept 2009, currently in Ballot May 2010
22 What does the name mean?Health Level 7 symbolizes the seventh layer of the International Standards Organization (ISO) Communications Model:1. Physical: Connects the entity to the transmission media2. Data Link: Provides error control between adjacent nodes3. Network: Routes the information in the network4. Transport: Provides end-to-end communication control5. Session: Handles problems that are not communication issues6. Presentation: Converts the information7. Application: Provides different services to the applicationsHL7 isn't just Level 7 any more! After years of implementing HL7 v2.x, HL7 standard developers realized it was virtually impossible to develop a comprehensive standard without including other levels of the International Organization for Standardization (ISO) Open Systems Interconnect (OSI) Model. Today, work groups exist for XML, Security, Modeling & Methodology, Arden Syntax, CCOW and Vocabulary (http://www.hl7.org/v3ballot/html/welcome/environment/index.htm)
23 HL7 v3.0HL7 V3, like V2.x, is a standard for exchanging messages among information systems that implement healthcare applications. However, V3 strives to improve the V2 process and its outcomes. The original process for defining HL7 messages was established in 1987 and has served well. The development principles behind HL7 V3 lead to a more robust, fully specified standard.New capabilities offered in Version 3 include:Top-down message development emphasizing reuse across multiple contexts and semantic interoperabilityRepresentation of complex relationshipsFormalisms for vocabulary supportSupport for large scale integrationSolving re-use and interoperability across multiple domain contextsA uniform set of modelsExpanded scope to include community medicine, epidemiology, veterinary medicine, clinical genomics, security, etc.From 1997
24 HL7 Development Framework: HDF The basis for the specification of a messaging standard is a Reference Information Model (RIM) that completely covers the domain being addressed. The RIM and the vocabulary domains are the bases for the semantic specification of message elements. The Domain Information Model (DIM ) defines the information content for a specific area of expertise or interest. The DIM represents one group’s view of the world.A proper subset of the RIM, called Refined Message Information Model (R-MIM) is used to express the information content for one or more related messages. The R-MIM provides one method of controlling optionality.The Hierarchical Message Description (HMD) specifies a set of messages based of one R-MIM. A message type is specified in one HMD.Source:
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