Master of Science

thesisLack of information is a serious concern for clinicians. Information resources can address this problem, leading to improvements in decision making and patient outcomes. Genomics is an information-rich domain where searching for information can be complex. For example, most physicians agree that pharmacogenomics can be used to improve the quality of care, and there is evidence that many patients harbor actionable pharmacogenomic variation. However, surveys have shown that physicians feel their knowledge of pharmacogenomics to be inadequate. This represents an information need. A natural approach to meet this need is to provide context-aware access to the precise information needed. The Health Level 7 Context-Aware Knowledge Retrieval Standard, a.k.a the Infobutton, offers a modality to deliver context-aware knowledge into electronic health record (EHR) systems. OpenInfobutton is a reference implementation of this standard that offers an open-source instantiation. In this thesis, we aimed to provide insight into pharmacogenomics information needs and an automated mechanism for addressing these needs. Such work can aid the design of tools that support clinical decisions in genomics

Developing a Prototype System for Integrating Pharmacogenomics Findings into Clinical Practice

Findings from pharmacogenomics (PGx) studies have the potential to be applied to individualize drug therapy to improve efficacy and reduce adverse drug events. Researchers have identified factors influencing uptake of genomics in medicine, but little is known about the specific technical barriers to incorporating PGx into existing clinical frameworks. We present the design and development of a prototype PGx clinical decision support (CDS) system that builds on existing clinical infrastructure and incorporates semi-active and active CDS. Informing this work, we updated previous evaluations of PGx knowledge characteristics, and of how the CDS capabilities of three local clinical systems align with data and functional requirements for PGx CDS. We summarize characteristics of PGx knowledge and technical needs for implementing PGx CDS within existing clinical frameworks. PGx decision support rules derived from FDA drug labels primarily involve drug metabolizing genes, vary in maturity, and the majority support the post-analytic phase of genetic testing. Computerized provider order entry capabilities are key functional requirements for PGx CDS and were best supported by one of the three systems we evaluated. We identified two technical needs when building on this system, the need for (1) new or existing standards for data exchange to connect clinical data to PGx knowledge, and (2) a method for implementing semi-active CDS. Our analyses enhance our understanding of principles for designing and implementing CDS for drug therapy individualization and our current understanding of PGx characteristics in a clinical context. Characteristics of PGx knowledge and capabilities of current clinical systems can help govern decisions about CDS implementation, and can help guide decisions made by groups that develop and maintain knowledge resources such that delivery of content for clinical care is supported

Standards for Scalable Clinical Decision Support: Need, Current and Emerging Standards, Gaps, and Proposal for Progress

Despite their potential to significantly improve health care, advanced clinical decision support (CDS) capabilities are not widely available in the clinical setting. An important reason for this limited availability of CDS capabilities is the application-specific and institution-specific nature of most current CDS implementations. Thus, a critical need for enabling CDS capabilities on a much larger scale is the development and adoption of standards that enable current and emerging CDS resources to be more effectively leveraged across multiple applications and care settings. Standards required for such effective scaling of CDS include (i) standard terminologies and information models to represent and communicate about health care data; (ii) standard approaches to representing clinical knowledge in both human-readable and machine-executable formats; and (iii) standard approaches for leveraging these knowledge resources to provide CDS capabilities across various applications and care settings. A number of standards do exist or are under development to meet these needs. However, many gaps and challenges remain, including the excessive complexity of many standards; the limited availability of easily accessible knowledge resources implemented using standard approaches; and the lack of tooling and other practical resources to enable the efficient adoption of existing standards. Thus, the future development and widespread adoption of current CDS standards will depend critically on the availability of tooling, knowledge bases, and other resources that make the adoption of CDS standards not only the right approach to take, but the cost-effective path to follow given the alternative of using a traditional, ad hoc approach to implementing CDS

System-Agnostic Clinical Decision Support Services: Benefits and Challenges for Scalable Decision Support

System-agnostic clinical decision support (CDS) services provide patient evaluation capabilities that are independent of specific CDS systems and system implementation contexts. While such system-agnostic CDS services hold great potential for facilitating the widespread implementation of CDS systems, little has been described regarding the benefits and challenges of their use. In this manuscript, the authors address this need by describing potential benefits and challenges of using a system-agnostic CDS service. This analysis is based on the authors’ formal assessments of, and practical experiences with, various approaches to developing, implementing, and maintaining CDS capabilities. In particular, the analysis draws on the authors’ experience developing and leveraging a system-agnostic CDS Web service known as SEBASTIAN. A primary potential benefit of using a system-agnostic CDS service is the relative ease and flexibility with which the service can be leveraged to implement CDS capabilities across applications and care settings. Other important potential benefits include facilitation of centralized knowledge management and knowledge sharing; the potential to support multiple underlying knowledge representations and knowledge resources through a common service interface; improved simplicity and componentization; easier testing and validation; and the enabling of distributed CDS system development. Conversely, important potential challenges include the increased effort required to develop knowledge resources capable of being used in many contexts and the critical need to standardize the service interface. Despite these challenges, our experiences to date indicate that the benefits of using a system-agnostic CDS service generally outweigh the challenges of using this approach to implementing and maintaining CDS systems

System-Agnostic Clinical Decision Support Services: Benefits and Challenges for Scalable Decision Support

System-agnostic clinical decision support (CDS) services provide patient evaluation capabilities that are independent of specific CDS systems and system implementation contexts. While such system-agnostic CDS services hold great potential for facilitating the widespread implementation of CDS systems, little has been described regarding the benefits and challenges of their use. In this manuscript, the authors address this need by describing potential benefits and challenges of using a system-agnostic CDS service. This analysis is based on the authors’ formal assessments of, and practical experiences with, various approaches to developing, implementing, and maintaining CDS capabilities. In particular, the analysis draws on the authors’ experience developing and leveraging a system-agnostic CDS Web service known as SEBASTIAN. A primary potential benefit of using a system-agnostic CDS service is the relative ease and flexibility with which the service can be leveraged to implement CDS capabilities across applications and care settings. Other important potential benefits include facilitation of centralized knowledge management and knowledge sharing; the potential to support multiple underlying knowledge representations and knowledge resources through a common service interface; improved simplicity and componentization; easier testing and validation; and the enabling of distributed CDS system development. Conversely, important potential challenges include the increased effort required to develop knowledge resources capable of being used in many contexts and the critical need to standardize the service interface. Despite these challenges, our experiences to date indicate that the benefits of using a system-agnostic CDS service generally outweigh the challenges of using this approach to implementing and maintaining CDS systems

Information Governance: An Investigation of Interface Errors Between Source and Receiving Systems

The monitoring of interoperability of information in healthcare organizations is of increasing interest due to patient safety, operational and financial considerations. This monitoring is referred to as information governance (IG) and is a complex topic based on several underlying concepts. Interfacing information at the foundational, structural and semantic level is necessary for meaningful use of health information. Issues that arise range from incongruent transfer of information from source systems to receiving systems, discrepancies in the source system and receiving system and failures in interfacing information. This research project examines information governance from the perspective of failures in interfacing information from the perspective of people, process and technology in monitoring interface errors between health information systems. The research design is evaluation and the methodology is case study in order to evaluate the effectiveness of interfaces between source and receiving systems. Particularly 17 Health Level Seven (HL7) interfaces were reviewed within a Critical Access Hospital (CAH) to investigate information governance from a people, process and technology perspective. This case study helped to identify needed information governance within the organization and plan for implementation of an information governance committee in order to address foundational and structural issues and to monitor unintended consequences caused by interface errors in the areas of patient safety, operational and financial impact due to interface errors

Automated Injection of Curated Knowledge Into Real-Time Clinical Systems: CDS Architecture for the 21st Century

abstract: Clinical Decision Support (CDS) is primarily associated with alerts, reminders, order entry, rule-based invocation, diagnostic aids, and on-demand information retrieval. While valuable, these foci have been in production use for decades, and do not provide a broader, interoperable means of plugging structured clinical knowledge into live electronic health record (EHR) ecosystems for purposes of orchestrating the user experiences of patients and clinicians. To date, the gap between knowledge representation and user-facing EHR integration has been considered an “implementation concern” requiring unscalable manual human efforts and governance coordination. Drafting a questionnaire engineered to meet the specifications of the HL7 CDS Knowledge Artifact specification, for example, carries no reasonable expectation that it may be imported and deployed into a live system without significant burdens. Dramatic reduction of the time and effort gap in the research and application cycle could be revolutionary. Doing so, however, requires both a floor-to-ceiling precoordination of functional boundaries in the knowledge management lifecycle, as well as formalization of the human processes by which this occurs. This research introduces ARTAKA: Architecture for Real-Time Application of Knowledge Artifacts, as a concrete floor-to-ceiling technological blueprint for both provider heath IT (HIT) and vendor organizations to incrementally introduce value into existing systems dynamically. This is made possible by service-ization of curated knowledge artifacts, then injected into a highly scalable backend infrastructure by automated orchestration through public marketplaces. Supplementary examples of client app integration are also provided. Compilation of knowledge into platform-specific form has been left flexible, in so far as implementations comply with ARTAKA’s Context Event Service (CES) communication and Health Services Platform (HSP) Marketplace service packaging standards. Towards the goal of interoperable human processes, ARTAKA’s treatment of knowledge artifacts as a specialized form of software allows knowledge engineers to operate as a type of software engineering practice. Thus, nearly a century of software development processes, tools, policies, and lessons offer immediate benefit: in some cases, with remarkable parity. Analyses of experimentation is provided with guidelines in how choice aspects of software development life cycles (SDLCs) apply to knowledge artifact development in an ARTAKA environment. Portions of this culminating document have been further initiated with Standards Developing Organizations (SDOs) intended to ultimately produce normative standards, as have active relationships with other bodies.Dissertation/ThesisDoctoral Dissertation Biomedical Informatics 201

Doctor of Philosophy

dissertationThe widespread use of genomic information to improve clinical care has long been a goal of clinicians, researchers, and policy-makers. With the completion of the Human Genome Project over a decade ago, the feasibility of attaining this goal on a widespread basis is becoming a greater reality. In fact, new genome sequencing technologies are bringing the cost of obtaining a patient's genomic information within reach of the general population. While this is an exciting prospect to health care, many barriers still remain to effectively use genomic information in a clinically meaningful way. These barriers, if not overcome, will limit the ability of genomic information to provide a significant impact on health care. Nevertheless, clinical decision support (CDS), which entails the provision of patient-specific knowledge to clinicians at appropriate times to enhance health care, offers a feasible solution. As such, this body of work represents an effort to develop a functional CDS solution capable of leveraging whole genome sequence information on a widespread basis. Many considerations were made in the design of the CDS solution in order to overcome the complexities of genomic information while aligning with common health information technology approaches and standards. This work represents an important advancement in the capabilities of integrating actionable genomic information within the clinical workflow using health informatics approaches

Doctor of Philosophy

dissertationInadequate care coordination has been identified as a significant problem in patient care, resulting in diminished satisfaction, increased cost, and reduced quality of care. Comprising an estimated 15.6% (approximately 11 million) of the pediatric population, children and youth with special health care needs (CYSHCN) are "those who have or are at increased risk for a chronic physical, developmental, behavioral, or emotional condition and who also require health and related services of a type or amount beyond that required by children generally". Caring for CYSHCN is often highly complex, time-, effort-, and resource-intensive, due to complex healthcare conditions, comorbidities, and age of patients. Current electronic health record (EHR) and personal health record (PHR) systems do not adequately support the needs of care coordination. The reasons for this include lack of appropriate tools to support complex care coordination tasks, poor usability, and gaps in information essential for providing team-based patient care. The issues are further amplified while coordinating care for CYSHCN because their health records tend to be voluminous, involve a large care team, and are distributed over multiple systems typically with little to no interoperability. To develop tools that promote effective and efficient care coordination, designers must first understand what information is needed, who needs it, when they need it, and how it can be made available. Our first study focused on identifying and describing information needs and associated goals related to coordinating care for CYSHCN. We found that a critical information goal for care coordination is care networking, which includes building a patient's care team; knowing team member identities, roles, and contact information; and sharing pertinent information with the team to coordinate care. In our second study, we designed and developed two versions of a patient-, family-, and clinician-facing tool to support care networking. We then conducted a formative evaluation and compared the usability, usefulness, and efficiency of the two versions. To enable such tools to help with management of information critical to care coordination, information for care networking needs to be obtained from all information sources involved in the patient's care. In our third study, we identified and assessed prevalent and emerging national data standards to support electronic exchange and extraction of patient care team related data. The findings and innovations from this research are envisioned to help guide the design and development of next generation clinician- and patient-/family-facing applications to support care coordination of complex pediatric patients