Storing and interpreting genomic information in widely deployed electronic health record systems

Electronic health record systems are in widespread use but currently have very limited genomic capabilities. Electronic health record systems are a logical place for patient genomic information to be stored and used for decision support and improvement of patient care. Genomic data and their automated interpretation are very challenging for electronic health record software development because they are substantially different than other kinds of electronic health record data and decision support. Those differences, the resulting challenges, and possible solutions are reviewed in this article.Genet Med15 10, 779–785.     

Do integrated record systems lead to integrated services? An observational study of a multi-professional system in a diabetes service

Purpose

There are few opportunities to study the use of integrated electronic health record (EHR) systems, where single patient records are used by a number of health care staff. The purpose of the study was to understand how an integrated electronic health record system was used by health care staff in the treatment and management of diabetes patients. The investigation was focused on the interface between the primary and secondary care services which patients access for their diabetes care.

Methods

Observations of the use of an integrated electronic health record during patients’ consultations with health care staff were conducted over a three month period. Twelve patients were followed through their consultations with a range of health care staff at a secondary care Diabetes Centre and in primary care settings. A thematic analysis of the observation data was undertaken.

Results

The integrated electronic health record system had been implemented across the primary and secondary care interface and was used by many, but not all, clinicians involved in the care of patients with diabetes. In some areas of care it enabled health care staff to access more accurate and detailed information to inform their clinical decision-making. Issues including negotiating rules for accessing patient records and duplication of recording in paper record systems had not been resolved consistently across services.

Conclusions

The findings offer suggestive evidence that a shared electronic health record can support more integrated care. Unresolved issues in implementing the system across all services and settings highlight the governance problems that can arise when systems are developed locally but are then extended across organisational and professional boundaries.     

Ethical,legal, and social implications of incorporating genomic information into electronic health records

The inclusion of genomic data in the electronic health record raises important ethical, legal, and social issues. In this article, we highlight these challenges and discuss potential solutions. We provide a brief background on the current state of electronic health records in the context of genomic medicine, discuss the importance of equitable access to genome-enabled electronic health records, and consider the potential use of electronic health records for improving genomic literacy in patients and providers. We highlight the importance of privacy, access, and security, and of determining which genomic information is included in the electronic health record. Finally, we discuss the challenges of reporting incidental findings, storing and reinterpreting genomic data, and nondocumentation and duty to warn family members at potential genetic risk.Genet Med15 10, 810–816.     

Practical challenges in integrating genomic data into the electronic health record

Genetic testing has had limited impact on routine clinical care. Widespread adoption of electronic health records presents a promising means of disseminating genetic testing into diverse care settings. Practical challenges to integration of genomic data into electronic health records include size and complexity of genetic test results, inadequate use of standards for clinical and genetic data, and limitations in electronic health record capacity to store and analyze genetic data. Related challenges include uncertainty in the interpretation of regulatory requirements for return of results, and privacy concerns specific to genetic testing. Successful integration of genomic data may require significant redesign of existing electronic health record systems.Genet Med15 10, 772–778.     

Are electronic health records ready for genomic medicine?

PurposeThe goal of this project was to assess genetic/genomic content in electronic health records.MethodsSemistructured interviews were conducted with key informants. Questions addressed documentation, organization, display, decision support and security of family history and genetic test information, and challenges and opportunities relating to integrating genetic/genomics content in electronic health records.ResultsThere were 56 participants: 10 electronic health record specialists, 18 primary care clinicians, 16 medical geneticists, and 12 genetic counselors. Few clinicians felt their electronic record met their current genetic/genomic medicine needs. Barriers to integration were mostly related to problems with family history data collection, documentation, and organization. Lack of demand for genetics content and privacy concerns were also mentioned as challenges. Data elements and functionality requirements that clinicians see include: pedigree drawing; clinical decision support for familial risk assessment and genetic testing indications; a patient portal for patient-entered data; and standards for data elements, terminology, structure, interoperability, and clinical decision support rules. Although most said that there is little impact of genetics/genomics on electronic records today, many stated genetics/genomics would be a driver of content in the next 5–10 years.ConclusionsElectronic health records have the potential to enable clinical integration of genetic/genomic medicine and improve delivery of personalized health care; however, structured and standardized data elements and functionality requirements are needed.     

Problem-oriented patient record model as a conceptual foundation for a multi-professional electronic patient record

OBJECTIVE: It is widely accepted that the development of electronic patient records, or even of a common electronic patient record, is one possible way to improve cooperation and data communication between nurses and physicians. Yet, little has been done so far to develop a common conceptual model for both medical and nursing patient records, which is a first challenge that should be met to set up a common electronic patient record. In this paper, we describe a problem-oriented conceptual model and we show how it may suit both nursing and medical perspectives in a hospital setting. METHODS: We started from existing nursing theory and from an initial model previously set up for primary care. In a hospital pilot site, a multi-disciplinary team refined this model using one large and complex clinical case (retrospective study) and nine ongoing cases (prospective study). An internal validation was performed through hospital-wide multi-professional interviews and through discussions around a graphical user interface prototype. To assess the consistency of the model, a computer engineer specified it. Finally, a Belgian expert working group performed an external assessment of the model. RESULTS: As a basis for a common patient record we propose a simple problem-oriented conceptual model with two levels of meta-information. The model is mapped with current nursing theories and it includes the following concepts: "health care element", "health approach", "health agent", "contact", "subcontact" and "service". These concepts, their interrelationships and some practical rules for using the model are illustrated in this paper. Our results are compatible with ongoing standardization work at the Belgian and European levels. CONCLUSIONS: Our conceptual model is potentially a foundation for a multi-professional electronic patient record that is problem-oriented and therefore patient-centred.     

Ethics, professionalism, and humanities at Michigan State University College of Human Medicine.

This article describes the variety of approaches used at Michigan State University's College of Human Medicine for teaching ethics, professionalism, and humanities to undergraduate medical students: courses in ethics and health policy; mentoring programs; selectives in history, literature, and spirituality; structured patient care experiences; and discussions with students in their clinical years on the ethical and professional challenges confronting them in their clinical experiences. Some of these approaches, such as the structured patient-care experience, may be unique to Michigan State. The authors place special emphasis on discussing the challenges that confront this curriculum, including struggles to keep up with the pace of change in the health care system, preserving and highlighting the linkages between the "ethics" and the "professionalism" strands of the curriculum, making optimal use of Web technologies, successfully communicating to students the ultimately practical importance of the medical humanities other than ethics, and solving the problems of geography created by a widely dispersed community campus system.     

Building a robust, scalable and standards-driven infrastructure for secondary use of EHR data: the SHARPn project

The Strategic Health IT Advanced Research Projects (SHARP) Program, established by the Office of the National Coordinator for Health Information Technology in 2010 supports research findings that remove barriers for increased adoption of health IT. The improvements envisioned by the SHARP Area 4 Consortium (SHARPn) will enable the use of the electronic health record (EHR) for secondary purposes, such as care process and outcomes improvement, biomedical research and epidemiologic monitoring of the nation's health. One of the primary informatics problem areas in this endeavor is the standardization of disparate health data from the nation's many health care organizations and providers. The SHARPn team is developing open source services and components to support the ubiquitous exchange, sharing and reuse or 'liquidity' of operational clinical data stored in electronic health records. One year into the design and development of the SHARPn framework, we demonstrated end to end data flow and a prototype SHARPn platform, using thousands of patient electronic records sourced from two large healthcare organizations: Mayo Clinic and Intermountain Healthcare. The platform was deployed to (1) receive source EHR data in several formats, (2) generate structured data from EHR narrative text, and (3) normalize the EHR data using common detailed clinical models and Consolidated Health Informatics standard terminologies, which were (4) accessed by a phenotyping service using normalized data specifications. The architecture of this prototype SHARPn platform is presented. The EHR data throughput demonstration showed success in normalizing native EHR data, both structured and narrative, from two independent organizations and EHR systems. Based on the demonstration, observed challenges for standardization of EHR data for interoperable secondary use are discussed.     

The Malaysian Telehealth Flagship Application: a national approach to health data protection and utilisation and consumer rights

Telehealth refers to the integration of information, telecommunication, human-machine interface technologies and health technologies to deliver health care, to promote the heath status of the people and to create health. The Malaysian Telehealth Application will, on completion, provide every resident of the country an electronic Lifetime Health Record (LHR) and Lifetime Health Plan (LHP). He or she will also hold a smart card that will contain a subset of the data in the Lifetime Health Record. These will be the means by which Malaysians will receive "seamless continuous quality care" across a range of health facilities and health care providers, and by which Malaysia's health goal of a nation of "healthy individuals, families and communities" is achieved. The challenges to security and privacy in providing access to an electronic Lifetime Health Record at private and government health facilities and to the electronic Lifetime Health Plan at homes of consumers require not only technical mechanisms but also national policies and practices addressing threats while facilitating access to health data during health encounters in different care settings. Organisational policies establish the goals that technical mechanisms serve. They should outline appropriate uses and access to information, create mechanisms for preventing and detecting violations, and set sanctions for violations. Some interesting innovations have been used to address these issues against the background of the launching of the multimedia supercorridor (MSC) in Malaysia.     

Representing patient preference-related concepts for inclusion in electronic health records

In recent years shared decision making between patients and their health care providers and the inclusion of patient preferences in patient care have been, in theory, embraced as models for good clinical practice. Patients' experiences, values, and preferences are increasingly acknowledged as important pieces of evidence for appropriate health care decision making. To effectively use information about patient preferences in patient care, this information, which is gathered through a process of preference elicitation, needs to be integrated with other types of information, e.g., diagnoses, treatments, and patient status indicators within the context of a longitudinal electronic health record. This integration requires that patient preference-related concepts be represented nonambiguously and in a manner that renders them suitable for computer rather than human processing. In this article, the authors describe important patient preference-related concepts and illustrate the use of the LOINC semantic structure as a terminology model to create fully specified names for a sample of 15 preference elicitations from 8 published research articles.     

Confidentiality,privacy, and security of genetic and genomic test information in electronic health records: points to consider

As clinical genetics evolves, and we embark down the path toward more personalized and effective health care, the amount, detail, and complexity of genetic/genomic test information within the electronic health record will increase. This information should be appropriately protected to secure the trust of patients and to support interoperable electronic health information exchange. This article discusses characteristics of genetic/genomic test information, including predictive capability, immutability, and uniqueness, which should be considered when developing policies about information protection. Issues related to “genetic exceptionalism”; i.e., whether genetic/genomic test information should be treated differently from other medical information for purposes of data access and permissible use, are also considered. These discussions can help guide policy that will facilitate the biological and clinical resource development to support the introduction of this information into health care.     

Clinical genomics in the world of the electronic health record

The widespread adoption of electronic health records presents a number of benefits to the field of clinical genomics. They include the ability to return results to the practitioner, to use genetic findings in clinical decision support, and to have data collected in the electronic health record that serve as a source of phenotypic information for analysis purposes. Not all electronic health records are created equal, however. They differ in their features, capabilities, and ease of use. Therefore, to understand the potential of the electronic health record, it is first necessary to understand its capabilities and the impact that implementation strategy has on usability. Specifically, we focus on the following areas: (i) how the electronic health record is used to capture data in clinical practice settings; (ii) how the implementation and configuration of the electronic health record affect the quality and availability of data; (iii) the management of clinical genetic test results and the feasibility of electronic health record integration; and (iv) the challenges of implementing an electronic health record in a research-intensive environment. This is followed by a discussion of the minimum functional requirements that an electronic health record must meet to enable the satisfactory integration of genomic results as well as the open issues that remain.Genet Med15 10, 786–791.     

The Wired Patient: Patterns of Electronic Patient Portal Use Among Patients With Cardiac Disease or Diabetes

Background

As providers develop an electronic health record–based infrastructure, patients are increasingly using Web portals to access their health information and participate electronically in the health care process. Little is known about how such portals are actually used.

Objective

In this paper, our goal was to describe the types and patterns of portal users in an integrated delivery system.

Methods

We analyzed 12 months of data from Web server log files on 2282 patients using a Web-based portal to their electronic health record (EHR). We obtained data for patients with cardiovascular disease and/or diabetes who had a Geisinger Clinic primary care provider and were registered “MyGeisinger” Web portal users. Hierarchical cluster analysis was applied to longitudinal data to profile users based on their frequency, intensity, and consistency of use. User types were characterized by basic demographic data from the EHR.

Results

We identified eight distinct portal user groups. The two largest groups (41.98%, 948/2258 and 24.84%, 561/2258) logged into the portal infrequently but had markedly different levels of engagement with their medical record. Other distinct groups were characterized by tracking biometric measures (10.54%, 238/2258), sending electronic messages to their provider (9.25%, 209/2258), preparing for an office visit (5.98%, 135/2258), and tracking laboratory results (4.16%, 94/2258).

Conclusions

There are naturally occurring groups of EHR Web portal users within a population of adult primary care patients with chronic conditions. More than half of the patient cohort exhibited distinct patterns of portal use linked to key features. These patterns of portal access and interaction provide insight into opportunities for electronic patient engagement strategies.     

A model driven approach for the German health telematics architectural framework and security infrastructure

Shared care concepts such as managed care and continuity of care are based on extended communication and cooperation between different health professionals or between them and the patient respectively. Health information systems and their components, which are very different in their structure, behavior, data and their semantics as well as regarding implementation details used in different environments for different purposes, have to provide intelligent interoperability. Therefore, flexibility, portability, and future orientation must be guaranteed using the newest development of model driven architecture. The ongoing work for the German health telematics platform based on an architectural framework and a security infrastructure is described in some detail. This concept of future proof health information networks with virtual electronic health records as core application starts with multifunctional electronic health cards. It fits into developments currently performed by many other developed countries.     

The need to know the history of the use of digital patient data, in particular the EHR

The purpose of this article is to explore the need for the possibility to reconstruct electronic medical data, in particular the electronic health record (EHR) as they have been or could have been presented to a specified health care professional at a specified moment in the past. The approach taken is that first the need for such functionality is discussed with attention to the differences between electronic records and paper records in this respect. Next the architectural and technical consequences of the implementation of the functionality are considered. The article concludes that such functionality is needed for medical audit, self assessment and handling of complaints. It further concludes that it is far from easy to implement the functionality. If the health care community underwrites the need for such functionality this will have a significant impact on the architecture of medical information systems and the (distributed) EHR. It is recommended that the professional associations and the governments, in collaboration with WHO, take a position on the need to be able to reconstruct the contents of the EHR. IMIA could take the lead in that process.     

Survivor and Clinician Assessment of Survivorship Care Plans for Hematopoietic Stem Cell Transplantation Patients: An Engineering,Primary Care,and Oncology Collaborative for Survivorship Health

The long-term care of hematopoietic stem cell transplantation (HSCT) survivors poses special challenges owing to a myriad of possible chronic and/or late complications. Survivorship care plans (SCPs) have been proposed as tools to communicate information on the late effects of treatment and recommended follow-up care to clinicians and survivors. The primary aims of this study were to determine SCP content and format, as well as to assess the preferred timing of SCP provision following HSCT. HSCT survivors and nontransplantation clinicians (oncologists and primary care physicians) were invited to participate in a survey evaluating the usefulness and utility of a sample HSCT-specific SCP with a treatment summary generated by autopopulation from an electronic health record (EHR). All participating HSCT survivors (n = 29) and clinicians (n = 18) indicated a desire to receive an SCP. More than 85% of the participants perceived information about treatments received, recommended follow-up and health maintenance including vaccinations, survivor and clinician resources, and graft-versus-host disease and other late/chronic side effects to be useful. The majority of survivors also believed that care team contact information was useful. In addition, >85% of survivors and clinicians agreed that the SCP increased their understanding of treatments and chronic/late side effects, improved health care provided, and were satisfied with the SCP and found it understandable and easy to use. The majority of survivors indicated that additional information should be added to the SCP, whereas some clinicians deemed the SCP too long. Survivors preferred to receive the SCP as a paper document at the end of a regular follow-up visit and review it with a cancer clinician, whereas clinicians preferred to receive the SCP through the EHR. These findings will help improve the design of future SCPs for use by HSCT survivors and clinicians. Future work will include leveraging the EHR to ease the burden of creating user-centered documents.     

Impacts of mobile tablet computing on provider productivity,communications, and the process of care

ObjectiveHealth information technology investments continue to increase while the value derived from their implementation and use is mixed. Mobile device adoption into practice is a recent trend that has increased dramatically and formal studies are needed to investigate consequent benefits and challenges. The objective of this study is to evaluate practitioner perceptions of improvements in productivity, provider-patient communications, care provision, technology usability and other outcomes following the adoption and use of a tablet computer connected to electronic health information resources.MethodsA pilot program was initiated in June 2013 to evaluate the effect of mobile tablet computers at one health provider organization in the southeast United States. Providers were asked to volunteer for the evaluation and were each given a mobile tablet computer. A total of 42 inpatient and outpatient providers were interviewed in 2015 using a survey style questionnaire that utilized yes/no, Likert-style, and open ended questions. Each had previously used an electronic health record (EHR) system a minimum of one year outside of residency, and were regular users of personal mobile devices. Each used a mobile tablet computer in the context of their practice connected to the health system EHR.ResultsThe survey results indicate that more than half of providers perceive the use of the tablet device as having a positive effect on patient communications, patient education, patient's perception of the provider, time spent interacting with patients, provider productivity, process of care, satisfaction with EHR when used together with the device, and care provision. Providers also reported feeling comfortable using the device (82.9%), would recommend the device to colleagues (69.2%), did not experience increased information security and privacy concerns (95%), and noted significant reductions in EHR login times (64.1%). Less than 25% of participants reported negative impacts on any of these areas as well as on time spent on order submission, note completion time, overall workload, patient satisfaction with care experience and patient outcomes. Gender, number of years in practice, practice type (general practitioner vs. specialist), and service type (inpatient/outpatient) were found to have a significant effect on perceptions of patient satisfaction, care process, and provider productivity.ConclusionsProviders found positive gains from utilizing mobile devices in overall productivity, improved communications with their patients, the process of care, and technology efficiencies when used in combination with EHR and other health information resources. Demographic and health care work environment play a role in how mobile technologies are integrated into practice by providers.