Digital data are anticipated to transform medicine. However, most of today’s medical data lack interoperability: hidden in isolated databases, incompatible systems and proprietary software, the data are difficult to exchange, analyze, and interpret. This slows down medical progress, as technologies that rely on these data – artificial intelligence, big data or mobile applications – cannot be used to their full potential. In this article, we argue that interoperability is a prerequisite for the digital innovations envisioned for future medicine. We focus on four areas where interoperable data and IT systems are particularly important: (1) artificial intelligence and big data; (2) medical communication; (3) research; and (4) international cooperation. We discuss how interoperability can facilitate digital transformation in these areas to improve the health and well-being of patients worldwide.

Background Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that investigate, from a general perspective, how machine learning is used in a rare disease context. This scoping review aims to address this gap and explores the use of machine learning in rare diseases, investigating, for example, in which rare diseases machine learning is applied, which types of algorithms and input data are used or which medical applications (e.g., diagnosis, prognosis or treatment) are studied. Methods Using a complex search string including generic search terms and 381 individual disease names, studies from the past 10 years (2010–2019) that applied machine learning in a rare disease context were identified on PubMed. To systematically map the research activity, eligible studies were categorized along different dimensions (e.g., rare disease group, type of algorithm, input data), and the number of studies within these categories was analyzed. Results Two hundred eleven studies from 32 countries investigating 74 different rare diseases were identified. Diseases with a higher prevalence appeared more often in the studies than diseases with a lower prevalence. Moreover, some rare disease groups were investigated more frequently than to be expected (e.g., rare neurologic diseases and rare systemic or rheumatologic diseases), others less frequently (e.g., rare inborn errors of metabolism and rare skin diseases). Ensemble methods (36.0%), support vector machines (32.2%) and artificial neural networks (31.8%) were the algorithms most commonly applied in the studies. Only a small proportion of studies evaluated their algorithms on an external data set (11.8%) or against a human expert (2.4%). As input data, images (32.2%), demographic data (27.0%) and “omics” data (26.5%) were used most frequently. Most studies used machine learning for diagnosis (40.8%) or prognosis (38.4%) whereas studies aiming to improve treatment were relatively scarce (4.7%). Patient numbers in the studies were small, typically ranging from 20 to 99 (35.5%). Conclusion Our review provides an overview of the use of machine learning in rare diseases. Mapping the current research activity, it can guide future work and help to facilitate the successful application of machine learning in rare diseases.

Electronic documentation of medication data is one of the biggest challenges associated with digital clinical documentation. Despite its importance, it has not been consistently implemented in German university hospitals. In this paper we describe the approach of the German Medical Informatics Initiative (MII) towards the modelling of a medication core dataset using FHIR® profiles and standard-compliant terminologies. The FHIR profiles for Medication and MedicationStatement were adapted to the core dataset of the MIl. The terminologies to be used were selected based on the criteria of the ISO-standard for the Identification of Medicinal Products (IDMP). For a first use case with a minimal medication dataset, the entries in the medication chapter of the German Procedure Classification (OPS codes) were analyzed and mapped to IDMP-compliant medication terminology. OPS data are available at all German hospitals as they are mandatory for reimbursement purposes. Reimbursement-relevant encounter data containing OPS medication procedures were used to create a FHIR representation based on the FHIR profiles MedicationStatement and Medication. This minimal solution includes – besides the details on patient and start-/end-dates – the active ingredients identified by the IDMP-compliant codes and – if specified in the OPS code – the route of administration and the range of the amount of substance administered to the patient, using the appropriate unit of measurement code. With FHIR, the medication data can be represented in the data integration centers of the MII to provide a standardized format for data analysis across the MII sites.

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Background The low number of patients suffering from any given rare diseases poses a difficult problem for medical research: With the exception of some specialized biobanks and disease registries, potential study participants’ information are disjoint and distributed over many medical institutions. Whenever some of those facilities are in close proximity, a significant overlap of patients can reasonably be expected, further complicating statistical study feasibility assessments and data gathering. Due to the sensitive nature of medical records and identifying data, data transfer and joint computations are often forbidden by law or associated with prohibitive amounts of effort. To alleviate this problem and to support rare disease research, we developed the Mainzelliste Secure EpiLinker (MainSEL) record linkage framework, a secure Multi-Party Computation based application using trusted-third-party-less cryptographic protocols to perform privacy-preserving record linkage with high security guarantees. In this work, we extend MainSEL to allow the record linkage based calculation of the number of common patients between institutions. This allows privacy-preserving statistical feasibility estimations for further analyses and data consolidation. Additionally, we created easy to deploy software packages using microservice containerization and continuous deployment/continuous integration. We performed tests with medical researchers using MainSEL in real-world medical IT environments, using synthetic patient data. Results We show that MainSEL achieves practical runtimes, performing 10 000 comparisons in approximately 5 minutes. Our approach proved to be feasible in a wide range of network settings and use cases. The “lessons learned” from the real-world testing show the need to explicitly support and document the usage and deployment for both analysis pipeline integration and researcher driven ad-hoc analysis use cases, thus clarifying the wide applicability of our software. MainSEL is freely available under: https://github.com/medicalinformatics/MainSEL Conclusions MainSEL performs well in real-world settings and is a useful tool not only for rare disease research, but medical research in general. It achieves practical runtimes, improved security guarantees compared to existing solutions, and is simple to deploy in strict clinical IT environments. Based on the “lessons learned” from the real-word testing, we hope to enable a wide range of medical researchers to meet their needs and requirements using modern privacy-preserving technologies.