Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience

PurposeThe Electronic Medical Records and Genomics (eMERGE) Consortium integrated biorepository-based research with electronic health records (EHR) to return results from large-scale genetic tests to participants and uploaded those data into the EHR. This article explores the ethical issues investigators encountered in that process.MethodsWe conducted in-depth, semistructured interviews with study personnel of the eMERGE-III Consortium sites that returned results.ResultsWe discuss major ethical issues that arose while attempting to return research results from the eMERGE Consortium to individual participants. These included difficulties recontacting those participants who had not explicitly consented to such and disclosing results to many participants with insufficient infrastructure and staff. Investigators reported being driven by a supererogatory clinical impulse.ConclusionAll these issues ultimately derive from ethical conflicts inherent to translational work being done at the interface of research and clinical care. A critical rethinking of this divide is important, but infrastructural support for such work is necessary for an ethically sound rollout of large-scale genetic testing.     

The RSNA Image Sharing Network

In the era of health information exchanges, there are trade-offs to consider when sharing a patient’s medical record among all providers that a patient might choose. Exchange among in-network partners on the same electronic medical records (EMR) and other integrated information systems is trivial. The patient identifier is common, as are the relevant departmental systems, to all providers. Difficulties arise when patient records including images (and reports) must be shared among different networks and even with the patients themselves. The National Institutes of Health (NIH) challenged Radiological Society of North America (RSNA) to develop a transport method that could supersede the need for physical media (for patients or other providers), replace point-to-point private networks among providers, and enable image exchange on an ad hoc basis between arbitrary health networks without long legal delays. In concert with the evolving US health care paradigm, patient engagement was to be fundamental. With Integrating Healthcare Enterprise’s (IHE’s) help, the challenge has been met with an operational system.     

Data sharing in large research consortia: experiences and recommendations from ENGAGE

Data sharing is essential for the conduct of cutting-edge research and is increasingly required by funders concerned with maximising the scientific yield from research data collections. International research consortia are encouraged to share data intra-consortia, inter-consortia and with the wider scientific community. Little is reported regarding the factors that hinder or facilitate data sharing in these different situations. This paper provides results from a survey conducted in the European Network for Genetic and Genomic Epidemiology (ENGAGE) that collected information from its participating institutions about their data-sharing experiences. The questionnaire queried about potential hurdles to data sharing, concerns about data sharing, lessons learned and recommendations for future collaborations. Overall, the survey results reveal that data sharing functioned well in ENGAGE and highlight areas that posed the most frequent hurdles for data sharing. Further challenges arise for international data sharing beyond the consortium. These challenges are described and steps to help address these are outlined.     

放射治疗中基于DICOM-RT模型的电子病历信息系统

电子病历(EMR)是医疗机构对门诊、住院患者(或保健对象)临床诊疗、指导干预的数字化医疗服务工作记录,是居民个人在医疗机构历次就诊过程中产生和被记录的完整、详细的临床信息资源。放射治疗EMR中包含文字、图像等信息,因此,比一般的EMR更加复杂。本文提出一种基于DICOM-RT标准的EMR信息系统,通过使用DICOM-RT的七个对象来实现放射治疗中不同系统、设备间的信息交换和共享,方便放射治疗患者治疗数据的管理,提高放射治疗的效率。     

Impact of HIPAA’s minimum necessary standard on genomic data sharing

This article provides a brief introduction to the Health Insurance Portability and Accountability Act of 1996 (HIPAA) Privacy Rule’s minimum necessary standard, which applies to sharing of genomic data, particularly clinical data, following 2013 Privacy Rule revisions. This research used the Thomson Reuters Westlaw database and law library resources in its legal analysis of the HIPAA privacy tiers and the impact of the minimum necessary standard on genomic data sharing. We considered relevant example cases of genomic data-sharing needs. In a climate of stepped-up HIPAA enforcement, this standard is of concern to laboratories that generate, use, and share genomic information. How data-sharing activities are characterized—whether for research, public health, or clinical interpretation and medical practice support—affects how the minimum necessary standard applies and its overall impact on data access and use. There is no clear regulatory guidance on how to apply HIPAA’s minimum necessary standard when considering the sharing of information in the data-rich environment of genomic testing. Laboratories that perform genomic testing should engage with policy makers to foster sound, well-informed policies and appropriate characterization of data-sharing activities to minimize adverse impacts on day-to-day workflows.     

电子病历系统与医务结算系统间的数据交换规格CLAIM(CLinical Accounting InforMation)汉化版的制作

CLinical Accounting InforMation(CLAIM)是日本开发的电子病历系统与医务结算系统间的数据交换规格。它使用eXtensible Markup Language(XML)作为标记语言,是不同医疗设施之间医疗数据交换规格Medical Markup Language(MML)的从属规格。CLAIM继承了MML2.x的基本结构,目前的版本2.1包括受理、预约、诊疗行为、结算金额等信息的两个模块和9个数据定义表格。考虑到中国现在还没有一个使用XML结构电子病历系统与医务结算系统之间信息的规格,鉴于CLAIM的柔韧性,我们制作了它的汉化版。由于日本的医务结算系统中采用"点数"制度,而中国的医院中没有此概念,另外,处方的书写形式等也与日本不同,所以我们重新制作了这两个模块,并相应的追加和修改了一些表格。CLAIM汉化版的制作将使中国医院的电子病历系统与医务结算系统之间有效而方便地进行数据交换成为可能。     

IHE XDS电子病历文档注册库的应用

目前医疗卫生信息化遇到的问题是电子病历文档如何安全有效共享,而医疗健康信息集成规范(integrating healthcare enterprise,IHE)的跨医疗机构文档共享(cross-enterprise document sharing,XDS)为此提供了一个安全域内基于电子商务注册信息模型(ebXML registry information model,ebR IM)的电子病历共享的解决方案,它的重点是查找、定位以及获取电子病历文档。本文分析了ebR IM和XDS元数据文档,设计并实现了XDS文档注册库,完成了注册文档集和查询文档服务,可供注册和查询电子病历文档。     

The trends in EMR and CPOE adoption in Japan under the national strategy

PurposeWe evaluate the status of health information system (HIS) adoption (In this paper, “HIS” means electronic medical record system (EMR) and computerized provider order entry system (CPOE)). We also evaluate the affect of the policies of Japanese government.MethodsThe status of HIS adoption in Japan from 2002 to 2011 was investigated using reports from complete surveys of all medical institutions conducted by the Ministry of Health, Labour and Welfare (MHLW). HIS-related budgets invested by the Japanese government from 2000 to 2008 were surveyed mainly using literatures and administrative documents of the Japanese government (MHLW and Ministry of Economy, Trade and Industry).ResultsThe rates of HIS adoption in Japan in 2011 were: 20.9% for the rate of EMR adoption in clinics, 20.1% for the rate of EMR adoption and 36.6% for the rate of CPOE adoption in hospitals. In hospitals, the rate of EMR and CPOE adoption were 51.5% and 78.6% in 822 large hospitals (400 or more beds), 27.3% and 52.1% in 1832 medium hospitals (200–399 beds), and 13.5% and 26.0% in 5951 small hospitals (less than 200 beds), respectively. Japan has a large number of medical institutions (99,547 clinics and 8605 hospitals) with a low rate of EMR adoption in clinics and a high rate of HIS adoption in hospitals. The national budget to expand HIS use was implemented for medium and large hospitals mainly. The policy target of New IT Reform Strategy was not achieved.ConclusionThe rate of HIS adoption in Japanese medium and large hospitals is high compared to small hospitals and clinics, and this is attributable to the fact that the Japanese government placed the target for HIS adoption on key hospitals with a large number of beds and concentrated budget investment in those hospitals. Besides, legal approval of EMR and the introduction of Diagnostic Procedure Combination system facilitated EMR adoption. There is less financial support for small hospitals than medium and large hospitals. The low rate of EMR adoption in clinics stems from the facts that there was little subsidies or incentives in the national remuneration for medical services, lack of cooperation from medical associations, and a failed attempt to mandate computerization of medical accounting (medical billing). Giving financial incentives is an effective means of raising EMR adoption rate. For wide usage of HIS, more financial support and incentive may be necessary for small hospitals and clinics.     

The Electronic Medical Records and Genomics (eMERGE) Network: past,present, and future

The Electronic Medical Records and Genomics Network is a National Human Genome Research Institute–funded consortium engaged in the development of methods and best practices for using the electronic medical record as a tool for genomic research. Now in its sixth year and second funding cycle, and comprising nine research groups and a coordinating center, the network has played a major role in validating the concept that clinical data derived from electronic medical records can be used successfully for genomic research. Current work is advancing knowledge in multiple disciplines at the intersection of genomics and health-care informatics, particularly for electronic phenotyping, genome-wide association studies, genomic medicine implementation, and the ethical and regulatory issues associated with genomics research and returning results to study participants. Here, we describe the evolution, accomplishments, opportunities, and challenges of the network from its inception as a five-group consortium focused on genotype–phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine.Genet Med15 10, 761–771.     

Computerizing medical records in Japan

PURPOSE: The present study reports the current status of computerizing medical records in Japan. In 2001, the Ministry of Health, Labour and Welfare formulated the Grand Design for the Development of Information Systems in the Healthcare and Medical Fields. The Grand Design stated a numerical target for "spreading the use of electronic medical records (EMR) in at least 60% of Japan's hospitals with 400 or more beds by 2006." The objective of this study was to examine the extent to which EMR and order entry systems (OES) have been adopted as of February 2007 and to evaluate the Japanese government's policy regarding the computerization of medical records. METHODS: We conducted a postal survey targeting medical institutions throughout Japan. In February 2007, we mailed self-administered questionnaires to all 1574 hospitals with 300 or more beds, and to a random selection of 1000 hospitals with less than 300 beds in addition to 4000 clinics. Responses were received from 812 (51.6%), 504 (50.5%), and 1769 (44.8%), respectively. We asked questions concerning: (i) the extent to which EMR and OES had been introduced; (ii) the reasons why certain institutions had not introduced EMR and (iii) the subjective evaluation of the efficacy and cost-effectiveness of EMR. RESULTS: The percentage of institutions that had introduced EMR as of February 2007 was 10.0% for hospitals and 10.1% for clinics. Even the percentage for hospitals with 400 or more beds was just 31.2%, illustrating that the government's target had not been reached. The most common reason given for not introducing EMR was: "The cost is high" which was observed in 82.0% of hospitals. It was considered that the introduction of EMR could improve 'inter-hospital networks', and 'time efficiency for physicians' by around 45% and 25% of hospitals, respectively. CONCLUSION: Healthcare information computerization in Japan is behind schedule because the introductory costs are high. For the computerization of healthcare information to be further promoted, prices of EMR systems should be lowered to a level which individual hospitals can afford. Furthermore, the communication between EMR systems should be further standardized to secure functional and semantic interoperability in Japan.     

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.     

Configuration challenges: implementing translational research policies in electronic medical records.

Prospective clinical trials are a key step in translating bench findings into bedside therapies. Electronic medical records (EMRs) are often cited as a significant new tool for advancing clinical trial capabilities into standard clinical practice. However, combining clinical research and clinical care activities into one unified electronic information system requires integrating a substantial body of regulatory requirements and institutional policies. Differing interpretations of external regulations and internal policies need to be reconciled so that the EMR configuration simultaneously conforms to all requirements.The authors describe how they used a detailed clinical vignette to help focus discussions about their institution's current research policies and how regulations and policies might be implemented in a commercial EMR. The vignette highlighted a number of inconsistencies in the institution's policies and in individual interpretations of regulatory intent.Attempts to implement potential policies in the EMR system also revealed a number of limitations and inconsistencies in the commercial system. The authors describe a set of compromises that will be implemented at The Children's Hospital until missing functionality is made available from the commercial vendor. Each institution that implements an EMR will need to resolve similar policy and configuration issues at its own facility. The authors highlight these configuration challenges by presenting a list of questions that must be answered unambiguously before implementing translational research capabilities into an operational EMR.     

A computerized method for identifying incidents associated with adverse drug events in outpatients

INTRODUCTION: In inpatients, computer monitors have been used to improve the detection of adverse drug events (ADEs). However, similar programs have not been available in outpatients. OBJECTIVE: To describe an approach for detecting incidents suggesting that an ADE may have occurred in outpatients by adapting methods from inpatient computer monitoring and developing terminology searches of electronic medical records. METHODS: One year of information from the outpatient electronic medical record (EMR) at one hospital and its clinics was reviewed. Altogether, 23064 patients and 88514 visits were identified. Patient demographics, medical problem lists, ICD-9 claims, patient allergies, medication history and all clinic visit notes were extracted and merged. We then searched for incidents suggesting that an ADE might be present using four methods: ICD-9 claims, new allergies, computer rules linking laboratory data to known medication exposures, and a medical terminology lexicon (M2D2). In this report, we describe how these search methods were developed to allow for ADE identification. CONCLUSION: The ability to carry out such quality-related work is an example of the benefits of the outpatient EMR that may not be apparent to those institutions considering adopting it.     

A computer-based medical record system and personal digital assistants to assess and follow patients with respiratory tract infections visiting a rural Kenyan health centre

Background  

Clinical research can be facilitated by the use of informatics tools. We used an existing electronic medical record (EMR) system and personal data assistants (PDAs) to assess the characteristics and outcomes of patients with acute respiratory illnesses (ARIs) visiting a Kenyan rural health center.     

The genome-enabled electronic medical record

The integration of patient-specific genomic information into the electronic medical record (EMR) will create many opportunities to improve patient care. Key to the successful incorporation of genomic information into the EMR will be the development of laboratory information systems capable of appropriately formatting molecular diagnostic and cytogenetic findings in the EMR. Due to the lack of granular genomics-related content in existing medical vocabularies, the adoption of new standards for describing clinically significant genomic information will be an important step toward recognizing the genome-enabled EMR. Appropriate capture of patient-specific genomic results in the EMR will generate new opportunities to utilize this information in clinical decision support, including automated response to pharmacogenomic-based risks.     

Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network

PurposeAs genomic sequencing becomes more common, medically actionable secondary findings will increasingly be returned to health care providers (HCPs), who will be faced with managing the resulting patient care. These findings are generally unsolicited, ie, unrelated to the sequencing indication and/or ordered by another clinician.MethodsTo understand the impact of receiving unsolicited results, we interviewed HCPs who received genomic results for patients enrolled in the Electronic Medical Records and Genomics (eMERGE) Phase III Network, which returned results on >100 actionable genes to eMERGE participants and HCPs.ResultsIn total, 16 HCPs across 3 eMERGE sites were interviewed about their experience of receiving a positive (likely pathogenic or pathogenic), negative, or variant of uncertain significance result for a patient enrolled in eMERGE Phase III and about managing their patient on the basis of the result. Although unsolicited, HCPs felt responsible for managing the patient’s resulting medical care. HCPs indicated that clinical utility depended on the actionability of results, and whereas comfort levels varied, confidence was improved by the availability of subspecialist consults. HCPs were concerned about patient anxiety, insurability, and missing an actionable result in the electronic health record.ConclusionOur findings help inform best practices for return of unsolicited genomic screening findings in the future.     

Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research

Exome sequencing (ES) and whole genome sequencing (WGS) putatively identify all adverse functional alleles of protein-coding genes. Accordingly, while ES/WGS are transformative new tools for gene discovery in human and medical genetics research, they also generate new manifestations of ethical issues related to the consent process, data sharing, and return of results. These manifestations have yet to be comprehensively framed, due in part to the rapidity with which new technologies for ES/WGS are being applied and because of a lack of empirical data to provide guidance. Accordingly, researchers, funding agencies, and policy makers have largely dealt with these issues intuitively. We explain how use of ES/WGS challenges: (i) models under which informed consent is typically obtained; (ii) how harms associated with data sharing are considered; and (iii) the nature of obligations surrounding unanticipated findings. We provide broad guidance about interim ways to contend with these issues and make broad recommendations for areas for novel resource and policy development.     

基于多特征融合的中文电子病历命名实体识别

目的针对某三级甲等医院电子病历中的非结构化部分(诊断和病情),建立多特征融合的条件随机场模型,自动化识别用自然语言描述的电子病历(electronic medical records,EMR)中的疾病和症状,从而实现电子病历信息的结构化存储,以利于电子病历的信息挖掘和统计分析。方法将手动标注的语料库分为训练集和测试集,借助NLPIR工具分割文本,选择CRF++工具进行实验。针对中文电子病历的数据特点,先选取基本特征和相应的特征模板,通过不同上下文窗口的对比实验确定其大小;再分别添加引导词特征和构词结构特征,对比两种高级特征对实验结果的影响。结果仅选取基本特征,上下文窗口为7时,识别效果最好;添加高级特征后,最终疾病实体F值为92.80%,症状实体F值为94.17%。结论条件随机场模型融合多种有效的特征,可以很好地识别出电子病历中的疾病和症状实体。本研究对电子病历的命名实体识别有重要的意义。     

No paper,but the same routines: a qualitative exploration of experiences in two Norwegian hospitals deprived of the paper based medical record

Background  

It has been shown that implementation of electronic medical records (EMR) and withdrawal of the paper-based medical record is feasible, but represents a drastic change in the information environment of hospital physicians. Previous investigations have revealed considerable inter-hospital variations in EMR system use and user satisfaction. The aim of this study was to further explore changes of clinicians' work after the EMR system implementation process and how they experienced working in a paper-deprived information environment.     

Development and implementation of an electronic medical record module to track genetic testing results

PurposeGenetic testing and results return pose many challenges, even in the era of electronic medical records. Whether results are positive or negative, genetic testing and return of results necessitate patient follow-up, referrals, and coordination between providers. Genetic evaluations typically utilize a variety of testing modalities with differing timetables and/or avenues to return. Therefore, genetic information requires a secondary, unified mechanism for storing and tracking results and communication to facilitate patient care.MethodsWe developed an electronic medical record (EMR) episodes-based module called Pediatric Genetic Tracking to provide a centralized summary of patient tracking information in a single-institution pediatric genetics setting.ResultsWe created episodes for 6,133 patients evaluated in our division over a 3-year period. They highlighted clinical information for 1,901 different diagnoses and 547 genetic tests, and the involvement of 9 providers, 7 genetic counselors, 61 trainees, and 15 students using two modes of follow-up.ConclusionThis Pediatric Genetic Tracking episodes system serves as a “one-stop shop” living document for updated patient genetic information and can be easily expanded to include variant content for broader population level sharing or analysis. These episodes-based modules facilitate communication to support timely and accurate return of genetic test results and follow-up.