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Informatics for Scientific Data Bio-informatics and Medical Informatics Week 9 Lecture notes INF 380E: Perspectives on Information Medical Informatics • Hersh: – the field concerned with the management and use of information in health and medicine Primary stakeholders in medical informatics • • • • patients clinicians payers governments Types of information • patient-specific – information generated and used in the care of patients • knowledge-based – the information that comprises the scientific basis of health care Core themes of medical informatics (Hersh) • • • • standards terminology usability demonstrated value Standards • HL7 – a family of standards for the exchange, integration, and retrieval of electronic health information • HL7 Mission: – HL7 empowers global health data interoperability by developing standards and enabling their adoption and implementation Interoperability • HIMSS – interoperability is the ability of different information technology systems and software applications to communicate, exchange data, and use information that has been exchanged Three Levels of Interoperability (HIMSS) 1. foundational • allows data exchange from one information technology system to be received by another • does not require the ability for the receiving information technology system to interpret the data. • System B can “receive” data from System A Three Levels of Interoperability (HIMSS) 2. structural • relies on the syntax of the data exchange. • ensures that data exchanges between information technology systems can be interpreted at the data field level. • system B can “read in” data from system A Three Levels of Interoperability (HIMSS) 3. semantic • ability of two or more systems or elements to exchange information and to use the information that has been exchanged • relies on both the structuring of the data exchange and the codification of the data including vocabulary so that the receiving information technology systems can interpret the data. • system B can “understand” data from system A Electronic Health Records • HL7 provides a set of "functional models and profiles that enable the constructs for management of electronic health records." • The intent is to standardize the objects and functions that represent patient information. Functional models • "A functional model in systems engineering and software engineering is a structured representation of the functions (activities, actions, processes, operations) within the modeled system or subject area." Challenges for medical informatics – discussion • Find a partner or two and discuss – Do Hersh’s core themes (standards, terminology, usability, demonstrated value) cover all of the challenges for medical informatics? • What are some challenges not mentioned by Hersh? • What are some opportunities? • Are there additional themes? Interaction between technology and scientific discipline • MacMullen and Denn – Argue that molecular biology is driven by and highly reliant on – development of techniques and technology to acquire data Types of tools for science (MacMullen and Denn) • physical tools – instruments to capture data from physical things or phenomena • logical tools – mathematical and statistical methods, applied to raw or derived data • information tools – databases, ontologies, metadata applied to data raw data? • primary data: – data derived directly from experimentation • derived data • secondary data • data levels Discussion • Find a partner or two and discuss: – Is the interaction between technology and discipline described by MacMullen and Denn unique to molecular biology and closely related fields? • Can you think of other examples? • Does this change the fundamental nature of a discipline? Knowledge Representation Issues • Sharing and integrating data at a semantic level requires a shared nomenclature – and common usage • So we need techniques to rigorously define our terms and document how we will use them Reference models • A reference model is "an abstract framework or domain-specific ontology consisting of an interlinked set of clearly defined concepts ... to encourage clear communication" (wikipedia) • Typically a "high-level" model, not specifying particular implementations Encoding representations directly • ontologies for information management and modeling encode a representation of a domain to enable computation Data curation • A discipline to help a variety of discipline with their information problems • By defining and developing technical and socio-technical solutions • That take the information life cycle of data and related objects into account The OAIS Reference Model • "This Recommended Practice establishes a common framework of terms and concepts which make up an Open Archival Information System (OAIS). • It allows existing and future archives to be more meaningfully compared and contrasted. • It provides a basis for further standardization within an archival context and it should promote greater vendor awareness of, and support of, archival requirements." The OAIS Reference Model • Originally developed by The Consultative Committee for Space Data Systems (CCSDS) • Has become very influential in digital archiving across domains • Defines components and roles essential for archival information systems • Includes a functional model and an information model. Information models • "An information model in software engineering is a representation of concepts and the relationships, constraints, rules, and operations to specify data semantics for a chosen domain of discourse." • Information models are commonly expressed with ER diagrams or UML • The OpenEHR EHR Information Model Metadata and data independence • Jim Grey argues that metadata can enable data independence • What is data independence? • How does metadata enable greater data independence? Data mining • These applications enable analysis of large amounts of data • Require certain kinds of expertise and rely on a range of technologies. Scientific data centers • NSIDC – provides data – and expertise on the management of data Discussion • Find a partner or two and discuss: – Where are the opportunities for information science research according to MacMullen and Denn? – What do you see as the points of entry for information professionals in scientific data management? • Educational roles? • Development roles? • Implementation roles?