HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.

The HerediGene Population Study is a large research study focused on identifying new genetic biomarkers for disease prevention, diagnosis, prognosis, and development of new therapeutics. A substantial IT infrastructure evolved to reach enrollment targets and return results to participants. More than 170,000 participants have been enrolled in the study to date, with 5.87% of those whole genome sequenced and 0.46% of those genotyped harboring pathogenic variants. Among other purposes, this infrastructure supports: (1) identifying candidates from clinical criteria, (2) monitoring for qualifying clinical events (e.g., blood draw), (3) contacting candidates, (4) obtaining consent electronically, (5) initiating lab orders, (6) integrating consent and lab orders into clinical workflow, (7) de-identifying samples and clinical data, (8) shipping/transmitting samples and clinical data, (9) genotyping/sequencing samples, (10) and re-identifying and returning results for participants where applicable. This study may serve as a model for similar genomic research and precision public health initiatives.

The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health.

The clinical use of genomic analysis has expanded rapidly resulting in an increased availability and utility of genomic information in clinical care. We have developed an infrastructure utilizing informatics tools and clinical processes to facilitate the use of whole genome sequencing data for population health management across the healthcare system. Our resulting framework scaled well to multiple clinical domains in both pediatric and adult care, although there were domain specific challenges that arose. Our infrastructure was complementary to existing clinical processes and well-received by care providers and patients. Informatics solutions were critical to the successful deployment and scaling of this program. Implementation of genomics at the scale of population health utilizes complicated technologies and processes that for many health systems are not supported by current information systems or in existing clinical workflows. To scale such a system requires a substantial clinical framework backed by informatics tools to facilitate the flow and management of data. Our work represents an early model that has been successful in scaling to 29 different genes with associated genetic conditions in four clinical domains. Work is ongoing to optimize informatics tools; and to identify best practices for translation to smaller healthcare systems.

An alert tool to promote lung protective ventilation for possible acute respiratory distress syndrome.

Objective: Computer-aided decision tools may speed recognition of acute respiratory distress syndrome (ARDS) and promote consistent, timely treatment using lung-protective ventilation (LPV). This study evaluated implementation and service (process) outcomes with deployment and use of a clinical decision support (CDS) synchronous alert tool associated with existing computerized ventilator protocols and targeted patients with possible ARDS not receiving LPV. Materials and Methods: We performed an explanatory mixed methods study from December 2019 to November 2020 to evaluate CDS alert implementation outcomes across 13 intensive care units (ICU) in an integrated healthcare system with >4000 mechanically ventilated patients annually. We utilized quantitative methods to measure service outcomes including CDS alert tool utilization, accuracy, and implementation effectiveness. Attitudes regarding the appropriateness and acceptability of the CDS tool were assessed via an electronic field survey of physicians and advanced practice providers. Results: Thirty-eight percent of study encounters had at least one episode of LPV nonadherence. Addition of LPV treatment detection logic prevented an estimated 1812 alert messages (41%) over use of disease detection logic alone. Forty-eight percent of alert recommendations were implemented within 2 h. Alert accuracy was estimated at 63% when compared to gold standard ARDS adjudication, with sensitivity of 85% and positive predictive value of 62%. Fifty-seven percent of survey respondents observed one or more benefits associated with the alert. Conclusion: Introduction of a CDS alert tool based upon ARDS risk factors and integrated with computerized ventilator protocol instructions increased visibility to gaps in LPV use and promoted increased adherence to LPV.

GARDE: a standards-based clinical decision support platform for identifying population health management cohorts.

Population health management (PHM) is an important approach to promote wellness and deliver health care to targeted individuals who meet criteria for preventive measures or treatment. A critical component for any PHM program is a data analytics platform that can target those eligible individuals. OBJECTIVE: The aim of this study was to design and implement a scalable standards-based clinical decision support (CDS) approach to identify patient cohorts for PHM and maximize opportunities for multi-site dissemination. MATERIALS AND METHODS: An architecture was established to support bidirectional data exchanges between heterogeneous electronic health record (EHR) data sources, PHM systems, and CDS components. HL7 Fast Healthcare Interoperability Resources and CDS Hooks were used to facilitate interoperability and dissemination. The approach was validated by deploying the platform at multiple sites to identify patients who meet the criteria for genetic evaluation of familial cancer. RESULTS: The Genetic Cancer Risk Detector (GARDE) platform was created and is comprised of four components: (1) an open-source CDS Hooks server for computing patient eligibility for PHM cohorts, (2) an open-source Population Coordinator that processes GARDE requests and communicates results to a PHM system, (3) an EHR Patient Data Repository, and (4) EHR PHM Tools to manage patients and perform outreach functions. Site-specific deployments were performed on onsite virtual machines and cloud-based Amazon Web Services. DISCUSSION: GARDE's component architecture establishes generalizable standards-based methods for computing PHM cohorts. Replicating deployments using one of the established deployment methods requires minimal local customization. Most of the deployment effort was related to obtaining site-specific information technology governance approvals.

Rapid Implementation of a Complex, Multimodal Technology Response to COVID-19 at an Integrated Community-Based Health Care System.

BACKGROUND: The rapid spread of severe acute respiratory syndrome coronavirus-2 or SARS-CoV-2 necessitated a scaled treatment response to the novel coronavirus disease 2019 (COVID-19). OBJECTIVE: This study aimed to characterize the design and rapid implementation of a complex, multimodal, technology response to COVID-19 led by the Intermountain Healthcare's (Intermountain's) Care Transformation Information Systems (CTIS) organization to build pandemic surge capacity. METHODS: Intermountain has active community-spread cases of COVID-19 that are increasing. We used the Centers for Disease Control and Prevention Pandemic Intervals Framework (the Framework) to characterize CTIS leadership's multimodal technology response to COVID-19 at Intermountain. We provide results on implementation feasibility and sustainability of health information technology (HIT) interventions as of June 30, 2020, characterize lessons learned and identify persistent barriers to sustained deployment. RESULTS: We characterize the CTIS organization's multimodal technology response to COVID-19 in five relevant areas of the Framework enabling (1) incident management, (2) surveillance, (3) laboratory testing, (4) community mitigation, and (5) medical care and countermeasures. We are seeing increased use of traditionally slow-to-adopt technologies that create additional surge capacity while sustaining patient safety and care quality. CTIS leadership recognized early that a multimodal technology intervention could enable additional surge capacity for health care delivery systems with a broad geographic and service scope. A statewide central tracking system to coordinate capacity planning and management response is needed. Order interoperability between health care systems remains a barrier to an integrated response. CONCLUSION: The rate of future pandemics is estimated to increase. The pandemic response of health care systems, like Intermountain, offers a blueprint for the leadership role that HIT organizations can play in mainstream care delivery, enabling a nimbler, virtual health care delivery system that is more responsive to current and future needs.

Enabling health information exchange at a US Poison Control Center.

OBJECTIVE: The objective of this project was to enable poison control center (PCC) participation in standards-based health information exchange (HIE). Previously, PCC participation was not possible due to software noncompliance with HIE standards, lack of informatics infrastructure, and the need to integrate HIE processes into workflow. MATERIALS AND METHODS: We adapted the Health Level Seven Consolidated Clinical Document Architecture (C-CDA) consultation note for the PCC use case. We used rapid prototyping to determine requirements for an HIE dashboard for use by PCCs and developed software called SNOWHITE that enables poison center HIE in tandem with a poisoning information system. RESULTS: We successfully implemented the process and software at the PCC and began sending outbound C-CDAs from the Utah PCC on February 15, 2017; we began receiving inbound C-CDAs on October 30, 2018. DISCUSSION: With the creation of SNOWHITE and initiation of an HIE process for sending outgoing C-CDA consultation notes from the Utah Poison Control Center, we accomplished the first participation of PCCs in standards-based HIE in the US. We faced several challenges that are also likely to be present at PCCs in other states, including the lack of a robust set of patient identifiers to support automated patient identity matching, challenges in emergency department computerized workflow integration, and the need to build HIE software for PCCs. CONCLUSION: As a multi-disciplinary, multi-organizational team, we successfully developed both a process and the informatics tools necessary to enable PCC participation in standards-based HIE and implemented the process at the Utah PCC.

Data standards for interoperability of care team information to support care coordination of complex pediatric patients.

OBJECTIVE: Seamless access to information about the individuals and organizations involved in the care of a specific patient ("care teams") is crucial to effective and efficient care coordination. This is especially true for vulnerable and complex patient populations such as pediatric patients with special needs. Despite wide adoption of electronic health records (EHR), current EHR systems do not adequately support the visualization and management of care teams within and across health care organizations. Electronic health information exchange has the potential to address this issue. In the present study, we assessed the adequacy of available health information exchange data standards to support the information needs related to care coordination of complex pediatric patients. METHODS: We derived data elements from the information needs of clinicians and parents to support patient care teams; and mapped them to data elements in the Health Level Seven (HL7) Consolidated Clinical Document Architecture (C-CDA) standard and in the HL7 Fast Healthcare Interoperability Resources (FHIR) standard. We also identified additional C-CDA data elements and FHIR resources that include patients' care team members. RESULTS: Information about care team members involved in patient care is generally well-represented in the C-CDA and FHIR specifications. However, there are gaps related to patients' non-clinical events and care team actions. In addition, there is no single place to find information about care team members; rather, information about practitioners and organizations may be available in several different types of C-CDA data elements and FHIR resources. CONCLUSION: Through standards-based electronic health information exchange, it appears to be feasible to build patient care team representations irrespective of the location of patient care. In order to gather care team information across disparate systems, exchange of multiple C-CDA documents and/or execution of multiple FHIR queries will be necessary. This approach has the potential to enable comprehensive patient care team views that may help improve care coordination.

Simple Workflow Changes Enable Effective Patient Identity Matching in Poison Control.

BACKGROUND: U.S. poison control centers pose a special case for patient identity matching because they collect only minimal patient identifying information. METHODS: In early 2017, the Utah Poison Control Center (Utah PCC) initiated participation in regional health information exchange by sending Health Level Seven Consolidated Clinical Document Architecture (C-CDA) documents to the Utah Health Information Network and Intermountain Healthcare. To increase the documentation of patient identifiers by the Utah PCC, we (1) adapted documentation practices to enable more complete and consistent documentation, and (2) implemented staff training to improve collection of identifiers. RESULTS: Compared with the same time period in 2016, the Utah PCC showed an increase of 27% (p < 0.001) in collection of birth date for cases referred to a health care facility, while improvements in the collection of other identifiers ranged from 0 to 8%. Automated patient identity matching was successful for 77% (100 of 130) of the C-CDAs. CONCLUSION: Historical processes and procedures for matching patient identities require adaptation or added functionality to adequately support the PCC use case.

Information needs of physicians, care coordinators, and families to support care coordination of children and youth with special health care needs (CYSHCN).

OBJECTIVES: Identify and describe information needs and associated goals of physicians, care coordinators, and families related to coordinating care for medically complex children and youth with special health care needs (CYSHCN). MATERIALS AND METHODS: We conducted 19 in-depth interviews with physicians, care coordinators, and parents of CYSHCN following the Critical Decision Method technique. We analyzed the interviews for information needs posed as questions using a systematic content analysis approach and categorized the questions into information need goal types and subtypes. RESULTS: The Critical Decision Method interviews resulted in an average of 80 information needs per interview. We categorized them into 6 information need goal types: (1) situation understanding, (2) care networking, (3) planning, (4) tracking/monitoring, (5) navigating the health care system, and (6) learning, and 32 subtypes. DISCUSSION AND CONCLUSION: Caring for CYSHCN generates a large amount of information needs that require significant effort from physicians, care coordinators, parents, and various other individuals. CYSHCN are often chronically ill and face developmental challenges that translate into intense demands on time, effort, and resources. Care coordination for CYCHSN involves multiple information systems, specialized resources, and complex decision-making. Solutions currently offered by health information technology fall short in providing support to meet the information needs to perform the complex care coordination tasks. Our findings present significant opportunities to improve coordination of care through multifaceted and fully integrated informatics solutions.

Formative Evaluation of Care Nexus: a Tool for the Visualization and Management of Care Teams of Complex Pediatric Patients.

Complex and chronic conditions in pediatric patients with special needs often result in large and diverse patient care teams. Having a comprehensive view of the care teams is crucial to achieving effective and efficient care coordination for these vulnerable patients. In this study, we iteratively design and develop two alternative user interfaces (graphical and tabular) of a prototype of a tool for visualizing and managing care teams and conduct a formative assessment of the usability, usefulness, and efficiency of the tool. The median time to task completion for the 21 study participants was less than 7 seconds for 19 out of the 22 usability tasks. While both the prototype formats were well-liked in terms of usability and usefulness, the tabular format was rated higher for usefulness (p=0.02). Inclusion of CareNexus-like tools in electronic and personal health records has the potential to facilitate care coordination in complex pediatric patients.

Improving Clinical Data Integrity by using Data Adjudication Techniques for Data Received through a Health Information Exchange (HIE).

Growing participation in Healthcare Information Exchange (HIE) has created opportunities for the seamless integration of external data into an organization's own EHR and clinical workflows. The process of integrating external data has the potential to detect data integrity issues. Lack of critiquing external data before its incorporation can lead to data unfit for use in the clinical setting. HIE data adjudication, by detecting inconsistencies, physiological and temporal incompatibilities, data completeness and timeliness issues in HIE data, facilitates corrective actions and improves clinical data integrity.

Analysis of family health history based risk assessment algorithms: classification and data requirements.

Family Health History (FHH) is a valuable and potentially low-cost tool for risk assessment and diagnosis in patient-centered healthcare. In this study, we identified and analyzed existing FHH-based risk assessment algorithms (RAAs) for cardio-vascular disease (CVD) and colorectal cancer (CRC) to guide implementers of electronic health record (EHR) systems regarding the data requirements for computing risk using these algorithms. We found a core set of data elements that are required by most RAAs. While some of these data are available in EHR systems, the patients can be empowered to contribute the remainder.

Development and early usage patterns of a consumer-facing family health history tool.

Personalized medicine will require detailed clinical patient profiles, and a particular focus on capturing data that is useful in forecasting risk. A detailed family health history is considered a critical component of these profiles, insomuch that it has been coined as 'the best genetic test available'. Despite this, tools aimed at capturing this information for use in electronic health records have been characterized as inadequate. In this manuscript we detail the creation of a patient-facing family health history tool known as OurFamilyHealth, whose long-term emphasis is to facilitate risk assessment and clinical decision support. We present the rationale for such a tool, describe its development and release as a component of Intermountain Healthcare's patient portal, and detail early usage statistics surrounding the application. Data derived from the tool since its release are also compared against family history charting patterns in Intermountain's electronic health records, revealing differences in data availability.