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The eMERGE Network is establishing methods for electronic transmittal of patient genetic test results from laboratories to healthcare providers across organizational boundaries. We surveyed the capabilities and needs of different network participants, established a common transfer format, and implemented transfer mechanisms based on this format. The interfaces we created are examples of the connectivity that must be instantiated before electronic genetic and genomic clinical decision support can be effectively built at the point of care. This work serves as a case example for both standards bodies and other organizations working to build the infrastructure required to provide better electronic clinical decision support for clinicians.

Resistant hypertension is defined as high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes. Despite the important health consequences of resistant hypertension, few studies of resistant hypertension have been conducted. To perform a genome-wide association study for resistant hypertension, we defined and identified cases of resistant hypertension and hypertensives with treated, controlled hypertension among >47,500 adults residing in the US linked to electronic health records (EHRs) and genotyped as part of the electronic MEdical Records & GEnomics (eMERGE) Network. Electronic selection logic using billing codes, laboratory values, text queries, and medication records was used to identify resistant hypertension cases and controls at each site, and a total of 3,006 cases of resistant hypertension and 876 controlled hypertensives were identified among eMERGE Phase I and II sites. After imputation and quality control, a total of 2,530,150 SNPs were tested for an association among 2,830 multi-ethnic cases of resistant hypertension and 876 controlled hypertensives. No test of association was genome-wide significant in the full dataset or in the dataset limited to European American cases (n = 1,719) and controls (n = 708). The most significant finding was CLNK rs13144136 at p = 1.00x10-6 (odds ratio = 0.68; 95% CI = 0.58-0.80) in the full dataset with similar results in the European American only dataset. We also examined whether SNPs known to influence blood pressure or hypertension also influenced resistant hypertension. None was significant after correction for multiple testing. These data highlight both the difficulties and the potential utility of EHR-linked genomic data to study clinically-relevant traits such as resistant hypertension.

PURPOSE - Neurological diseases have a devastating impact on millions of individuals and their families. These diseases will continue to constitute a significant research focus for this century. The search for effective treatments and cures requires multiple teams of experts in clinical neurosciences, neuroradiology, engineering, and industry. Hence, the need to communicate a large amount of information with accuracy and precision is more necessary than ever for this specialty.
METHODS - In this paper, we present a distributed system that supports this vision, which we call the CranialVault Cloud (CranialCloud). It consists in a network of nodes, each with the capability to store and process data, that share the same spatial normalization processes, thus guaranteeing a common reference space. We detail and justify design choices, the architecture and functionality of individual nodes, the way these nodes interact, and how the distributed system can be used to support inter-institutional research.
RESULTS - We discuss the current state of the system that gathers data for more than 1,600 patients and how we envision it to grow.
CONCLUSION - We contend that the fastest way to find and develop promising treatments and cures is to permit teams of researchers to aggregate data, spatially normalize these data, and share them. The CranialVault system is a system that supports this vision.

The Mid-South Clinical Data Research Network (CDRN) encompasses three large health systems: (1) Vanderbilt Health System (VU) with electronic medical records for over 2 million patients, (2) the Vanderbilt Healthcare Affiliated Network (VHAN) which currently includes over 40 hospitals, hundreds of ambulatory practices, and over 3 million patients in the Mid-South, and (3) Greenway Medical Technologies, with access to 24 million patients nationally. Initial goals of the Mid-South CDRN include: (1) expansion of our VU data network to include the VHAN and Greenway systems, (2) developing data integration/interoperability across the three systems, (3) improving our current tools for extracting clinical data, (4) optimization of tools for collection of patient-reported data, and (5) expansion of clinical decision support. By 18 months, we anticipate our CDRN will robustly support projects in comparative effectiveness research, pragmatic clinical trials, and other key research areas and have the capacity to share data and health information technology tools nationally.
Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

BACKGROUND - Genetic studies require precise phenotype definitions, but electronic medical record (EMR) phenotype data are recorded inconsistently and in a variety of formats.
OBJECTIVE - To present lessons learned about validation of EMR-based phenotypes from the Electronic Medical Records and Genomics (eMERGE) studies.
MATERIALS AND METHODS - The eMERGE network created and validated 13 EMR-derived phenotype algorithms. Network sites are Group Health, Marshfield Clinic, Mayo Clinic, Northwestern University, and Vanderbilt University.
RESULTS - By validating EMR-derived phenotypes we learned that: (1) multisite validation improves phenotype algorithm accuracy; (2) targets for validation should be carefully considered and defined; (3) specifying time frames for review of variables eases validation time and improves accuracy; (4) using repeated measures requires defining the relevant time period and specifying the most meaningful value to be studied; (5) patient movement in and out of the health plan (transience) can result in incomplete or fragmented data; (6) the review scope should be defined carefully; (7) particular care is required in combining EMR and research data; (8) medication data can be assessed using claims, medications dispensed, or medications prescribed; (9) algorithm development and validation work best as an iterative process; and (10) validation by content experts or structured chart review can provide accurate results.
CONCLUSIONS - Despite the diverse structure of the five EMRs of the eMERGE sites, we developed, validated, and successfully deployed 13 electronic phenotype algorithms. Validation is a worthwhile process that not only measures phenotype performance but also strengthens phenotype algorithm definitions and enhances their inter-institutional sharing.

BACKGROUND - Current image sharing is carried out by manual transportation of CDs by patients or organization-coordinated sharing networks. The former places a significant burden on patients and providers. The latter faces challenges to patient privacy.
OBJECTIVE - To allow healthcare providers efficient access to medical imaging data acquired at other unaffiliated healthcare facilities while ensuring strong protection of patient privacy and minimizing burden on patients, providers, and the information technology infrastructure.
METHODS - An image sharing framework is described that involves patients as an integral part of, and with full control of, the image sharing process. Central to this framework is the Patient Controlled Access-key REgistry (PCARE) which manages the access keys issued by image source facilities. When digitally signed by patients, the access keys are used by any requesting facility to retrieve the associated imaging data from the source facility. A centralized patient portal, called a PCARE patient control portal, allows patients to manage all the access keys in PCARE.
RESULTS - A prototype of the PCARE framework has been developed by extending open-source technology. The results for feasibility, performance, and user assessments are encouraging and demonstrate the benefits of patient-controlled image sharing.
DISCUSSION - The PCARE framework is effective in many important clinical cases of image sharing and can be used to integrate organization-coordinated sharing networks. The same framework can also be used to realize a longitudinal virtual electronic health record.
CONCLUSION - The PCARE framework allows prior imaging data to be shared among unaffiliated healthcare facilities while protecting patient privacy with minimal burden on patients, providers, and infrastructure. A prototype has been implemented to demonstrate the feasibility and benefits of this approach.

PURPOSE - Computerized clinical decision support systems (CDSSs) for intensive insulin therapy (IIT) are increasingly common. However, recent studies question IIT's safety and mortality benefit. Researchers have identified factors influencing IIT performance, but little is known about how workflow affects computer-based IIT. We used ethnographic methods to evaluate IIT CDSS with respect to other clinical information systems and care processes.
METHODS - We conducted direct observation of and unstructured interviews with nurses using IIT CDSS in the surgical and trauma intensive care units at an academic medical center. We observed 49h of intensive care unit workflow including 49 instances of nurses using IIT CDSS embedded in a provider order entry system. Observations focused on the interaction of people, process, and technology. By analyzing qualitative field note data through an inductive approach, we identified barriers and facilitators to IIT CDSS use.
RESULTS - Barriers included (1) workload tradeoffs between computer system use and direct patient care, especially related to electronic nursing documentation, (2) lack of IIT CDSS protocol reminders, (3) inaccurate user interface design assumptions, and (4) potential for error in operating medical devices. Facilitators included (1) nurse trust in IIT CDSS combined with clinical judgment, (2) nurse resilience, and (3) paper serving as an intermediary between patient bedside and IIT CDSS.
CONCLUSION - This analysis revealed sociotechnical interactions affecting IIT CDSS that previous studies have not addressed. These issues may influence protocol performance at other institutions. Findings have implications for IIT CDSS user interface design and alerts, and may contribute to nascent general CDSS theory.
2011 Elsevier Ireland Ltd. All rights reserved.

In this article, we present the design and implementation of a regional ocular telehealth network for remote assessment and management of diabetic retinopathy (DR), including the design requirements, network topology, protocol design, system work flow, graphics user interfaces, and performance evaluation. The Telemedical Retinal Image Analysis and Diagnosis Network is a computer-aided, image analysis telehealth paradigm for the diagnosis of DR and other retinal diseases using fundus images acquired from primary care end users delivering care to underserved patient populations in the mid-South and southeastern United States.

Health data that appears anonymous, such as DNA records, can be re-identified to named patients via location visit patterns, or trails. This is a realistic privacy concern which continues to exist because data holders do not collaborate prior to making disclosures. In this paper, we present STRANON, a novel computational protocol that enables data holders to work together to determine records that can be disclosed and satisfy a formal privacy protection model. STRANON incorporates a secure encrypted environment, so no data holder reveals information until the trails of disclosed records are provably unlinkable. We evaluate STRANON on real-world datasets with known susceptibilities and demonstrate data holders can release significant quantities of data with zero trail re-identifiability.