The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases – Background, Conception and Implementation

Rare lung diseases affect 1.5–3 million people in Europe while causing bad prognosis or early deaths for patients. The European Reference Network for Respiratory Diseases (ERN-Lung) is a patient centric network, funded by the European Union (EU). The aims of ERN-LUNG is to increase healthcare and research regarding rare respiratory diseases. An initial need for cross-border healthcare and research is the use of registries and databases. A typical problem in registries for RDs is the data exchange, since the registries use different kind of data with different types or descriptions. Therefore, ERN-Lung decided to create a new Registry Data-Warehouse (RDW) where different existing registries are connected to enable cross-border healthcare within ERN-Lung. This work facilitates the aims, conception and implementation for the RDW, while considering a semantic interoperability approach. We created a common dataset (CDS) to have a common descriptions of respiratory diseases patients within the ERN registries. We further developed the RDW based on Open Source Registry System for Rare Diseases (OSSE), which includes a Metadata Repository with the Samply.MDR to unique describe data for the minimal dataset. Within the RDW, data from existing registries is not stored in a central database. The RDW uses the approach of the “Decentral Search” and can send requests to the connected registries, whereas only aggregated data is returned about how many patients with specific characteristics are available. However, further work is needed to connect the different existing registries to the RDW and to perform first studies.

Accessing the ECG Data of the Apple Watch and Accomplishing Interoperability Through FHIR

Medical data generated by wearables and smartphones can add value to health care and medical research. This also applies to the ECG data that is created with Apple Watch 4 or later. However, Apple currently does not provide an efficient solution for accessing and sharing ECG raw data in a standardized data format. Our method aims to provide a solution that enables patients to share their Apple Watch’s ECG data with any health care institution via an iPhone application. We achieved this by implementing a parser in Swift that converts the Apple Watch’s raw ECG data into a FHIR observation. Furthermore, we added the capability of transmitting these observations to a specified server and equipping it with the patient’s reference number. The result is a user-friendly iPhone application, enabling patients to share their Apple Watch’s ECG data in a widely known health data standard with minimal effort. This allows the personnel involved in the patient’s treatment to use data that was previously difficult to access for further analyses and processing. Our solution can facilitate research for new treatment methods, for example, utilizing the Apple Watch for continuous monitoring of heart activity and early detection of heart conditions.

Quality of Life as an Indicator for Care Delivery in Clinical Oncology Using FHIR

Introduction: Health-related quality of life (HR-QoL) as a parameter for patient well-being is becoming increasingly important.[1] Nevertheless, it is mainly used as an endpoint in studies rather than as an indicator for adjustments in therapy. In this paper we will present an approach to gradually integrate quality of life (QoL) as a control element into the care delivery of oncology. Concept: Acceptance, usability, interoperability and data protection were identified and integrated as key indicators for the development. As an initial approach, a questionnaire tool was developed to provide patients a simplified answering of questionnaires and physicians a clearer presentation of the results. Implementation: As communication standard HL7 FHIR was used and known security concepts like OpenID Concept were integrated. In a usability study, first results were achieved by asking patients in the waiting room to answer a questionnaire, which will be discussed with the physician in the appointment. This study was conducted in 2019 at theSLK Clinics Heilbronn and achieved 86% participation of all respondents with an average age of 67 years. Discussion: Although the evaluation study could prove positive results in usability and acceptance, it is necessary to aim for longitudinal surveys in order to include QoL as a control element in the therapy. However, a longitudinal survey through questionnaires leads to decreasing compliance and increasing response bias. [2] For this reason, the concept needs to be expanded. With sensors a continuous monitoring can be carried out and the data can be mapped to the individual, interpreted by machine learning. Conclusion: Questionnaires are a concept that has been successfully applied in studies for years. However, since care delivery poses different challenges, the integration of new concepts is inevitable. The authors are currently working on an extension of the use of questionnaires with patient generated data through sensors.

Executing Distributed Healthcare and Research Processes – The HiGHmed Data Sharing Framework

Several standards and frameworks have been described in existing literature and technical manuals that contribute to solving the interoperability problem. Their data models usually focus on clinical data and only support healthcare delivery processes. Research processes including cross organizational cohort size estimation, approvals and reviews of research proposals, consent checks, record linkage and pseudonymization need to be supported within the HiGHmed medical informatics consortium. The open source HiGHmed Data Sharing Framework implements a distributed business process engine for executing arbitrary biomedical research and healthcare processes modeled and executed using BPMN 2.0 while exchanging information using FHIR R4 resources. The proposed reference implementation is currently being rolled out to eight university hospitals in Germany as well as a trusted third party and available open source under the Apache 2.0 license.

First Steps to Evaluate an NLP Tool’s Medication Extraction Accuracy from Discharge Letters

Introduction: The aim of this study is to evaluate the use of a natural language processing (NLP) software to extract medication statements from unstructured medical discharge letters. Methods: Ten randomly selected discharge letters were extracted from the data warehouse of the University Hospital Erlangen (UHE) and manually annotated to create a gold standard. The AHD NLP tool, provided by MIRACUM’s industry partner was used to annotate these discharge letters. Annotations by the NLP tool where then compared to the gold standard on two levels: phrase precision (whether or not the whole medication statement has been identified correctly) and token precision (whether or not the medication name has been identified correctly within correctly discovered medication phrases). Results: The NLP tool detected medication related phrases with an overall F-measure of 0.852. The medication name has been identified correctly with an overall F-measure of 0.936. Discussion: This proof-of-concept study is a first step towards an automated scalable evaluation system for MIRACUM’s industry partner’s NLP tool by using a gold standard. Medication phrases and names have been correctly identified in most cases by the NLP system. Future effort needs to be put into extending and validating the gold standard.

Ontological Modelling and Execution of Phenotypic Queries in the Leipzig Health Atlas

Sharing data is of great importance for research in medical sciences. It is the basis for reproducibility and reuse of already generated outcomes in new projects and in new contexts. FAIR data principles are the basics for sharing data. The Leipzig Health Atlas (LHA) platform follows these principles and provides data, describing metadata, and models that have been implemented in novel software tools and are available as demonstrators. LHA reuses and extends three different major components that have been previously developed by other projects. The SEEK management platform is the foundation providing a repository for archiving, presenting and secure sharing a wide range of publication results, such as published reports, (bio)medical data as well as interactive models and tools. The LHA Data Portal manages study metadata and data allowing to search for data of interest. Finally, PhenoMan is an ontological framework for phenotype modelling. This paper describes the interrelation of these three components. In particular, we use the PhenoMan to, firstly, model and represent phenotypes within the LHA platform. Then, secondly, the ontological phenotype representation can be used to generate search queries that are executed by the LHA Data Portal. The PhenoMan generates the queries in a novel domain specific query language (SDQL), which is specific for data management systems based on CDISC ODM standard, such as the LHA Data Portal. Our approach was successfully applied to represent phenotypes in the Leipzig Health Atlas with the possibility to execute corresponding queries within the LHA Data Portal.

ODM Clinical Data Generator: Syntactically Correct Clinical Data Based on Metadata Definition

The Operational Data Model (ODM) is a data standard for interchanging clinical trial data. ODM contains the metadata definition of a study, i.e., case report forms, as well as the clinical data, i.e., the answers of the participants. The portal of medical data models is an infrastructure for creation, exchange, and analysis of medical metadata models. There, over 23000 metadata definitions can be downloaded in ODM format. Due to data protection law and privacy issues, clinical data is not contained in these files. Access to exemplary clinical test data in the desired metadata definition is necessary in order to evaluate systems claiming to support ODM or to evaluate if a planned statistical analysis can be performed with the defined data types. In this work, we present a web application, which generates syntactically correct clinical data in ODM format based on an uploaded ODM metadata definition. Data types and range constraints are taken into account. Data for up to one million participants can be generated in a reasonable amount of time. Thus, in combination with the portal of medical data models, a large number of ODM files including metadata definition and clinical data can be provided for testing of any ODM supporting system. The current version of the application can be tested at https://cdgen.uni-muenster.de and source code is available, under MIT license, at https://imigitlab.uni-muenster.de/published/odm-clinical-data-generator.

Visualization of Similar Patients in a Clinical Decision Support System for Rare Diseases – A Focus Group Study

The diagnosis of patients with rare diseases is often delayed. A Clinical Decision Support System using similarity analysis of patient-based data may have the potential to support the diagnosis of patients with rare diseases. This qualitative study has the objective to investigate how the result of a patient similarity analysis should be presented to a physician to enable diagnosis support. We conducted a focus group with physicians practicing in rare diseases as well as medical informatics researchers. To prepare the focus group, a literature search was performed to check the current state of research regarding visualization of similar patients. We then created software-mockups for the presentation of these visualization methods for the discussion within the focus group. Two persons took independently field notes for data collection of the focus group. A questionnaire was distributed to the participants to rate the visualization methods. The results show that four visualization methods are promising for the visualization of similar patients: “Patient on demand table”, “Criteria selection”, “Time-Series chart” and “Patient timeline. “Patient on demand table” shows a direct comparison of patient characteristics, whereas “Criteria selection” allows the selection of different patient criteria to get deeper insights into the data. The “Time-Series chart” shows the time course of clinical parameters (e.g. blood pressure) whereas a “Patient timeline” indicates which time events exist for a patient (e.g. several symptoms on different dates). In the future, we will develop a software-prototype of the Clinical Decision Support System to include the visualization methods and evaluate the clinical usage.

Preliminary Analysis of Structured Reporting in the HiGHmed Use Case Cardiology: Challenges and Measures

The HiGHmed consortium aims to create a shared information governance framework to integrate clinical routine data. One challenge is the replacement of unstructured reporting (e.g. doctoral letters) with structured reporting in clinical routine. The Heidelberg cardiology department evaluates dynamic PDF forms for structured data reporting of heart failure (HF) patients. In this use case, we aim to identify potential caveats or shortcomings in data processing at an early stage. We employed data mining strategies to detect patterns related to incomplete or false data, which we found to be present among all data types. We then discuss the characteristics of the baseline patient cohort in Heidelberg to find out about specific peculiarities and potential biases, which may be site-specific. Briefly, our patient population is predominantly male (67%), NYHA I & II are the most common severity classes, NYHA IV is missing entirely. Most patients have a dilated cardiomyopathy (DCM) or coronary heart disease (CHD) diagnosed as their cause of HF. Finally, we also analyzed how comorbidities and risk factors relate to specific disease entities of heart failure patients. Family anamnesis was more frequent among cardiomyopathy patients than among CHD patients, who show a more dominating presence of dyslipidemia instead. Generally, the most dominant risk factor was arterial hypertension, while at the other end of the scale alcoholism appears to be underreported.

Use of LOINC and SNOMED CT with FHIR for Microbiology Data

Infectious diseases due to microbial resistance pose a worldwide threat that calls for data sharing and the rapid reuse of medical data from health care to research. The integration of pathogen-related data from different hospitals can yield intelligent infection control systems that detect potentially dangerous germs as early as possible. Within the use case Infection Control of the German HiGHmed Project, eight university hospitals have agreed to share their data to enable analysis of various data sources. Data sharing among different hospitals requires interoperability standards that define the structure and the terminology of the information to be exchanged. This article presents the work performed at the University Hospital Charité and Berlin Institute of Health towards a standard model to exchange microbiology data. Fast Healthcare Interoperability Resources (FHIR) is a standard for fast information exchange that allows to model healthcare information, based on information packets called resources, which can be customized into so-called profiles to match use case- specific needs. We show how we created the specific profiles for microbiology data. The model was implemented using FHIR for the structure definition, and the international standards SNOMED CT and LOINC for the terminology services.