Search

The human-induced climate crisis endangers health and the foundations of life for us humans. The professional society GMDS – German Assocation for Medical Informatics, Biometry and Epidemiology – considers itself responsible for the health in society. What does this mean in times of the climate crisis? During a workshop entitled “Climate change, digitalization and health“ at GMDS2023 in Heilbronn, action areas for GMDS as a professional society and for its members were discussed. On the micro level, for example, the necessity, the anticipated benefits for human health, and the climate consequences of planned projects should be reflected upon. On the meso level, GMDS-organized events could be made climate-neutral, for example. On the macro level, GMDS could, for example, influence funding bodies to consider climate consequences in decisions regarding research proposals. We invite everyone interested to actively participate in the planned further discussions. The establishment of a GMDS project group or working group on this topic is planned. Now is the time to take responsibility for the climate. This applies at the professional level for us personally as well as for the professional society GMDS as an institution.

Background : To support clinical decision-making at the point of care, the "best next step" based on Standard Operating Procedures (SOPs) and actual accurate patient data must be provided. To do this, textual SOPs have to be transformed into operable clinical algorithms and linked to the data of the patient being treated. For this linkage, we need to know exactly which data are needed by clinicians at a certain decision point and whether these data are available. These data might be identical to the data used within the SOP or might integrate a broader view. To address these concerns, we examined if the data used by the SOP is also complete from the point of view of physicians for contextual decision-making. Methods : We selected a cohort of 67 patients with stage III melanoma who had undergone adjuvant treatment and mainly had an indication for a sentinel biopsy. First, we performed a step-by-step simulation of the patient treatment along our clinical algorithm, which is based on a hospital-specific SOP, to validate the algorithm with the given Fast Healthcare Interoperability Resources (FHIR)-based data of our cohort. Second, we presented three different decision situations within our algorithm to 10 dermatooncologists, focusing on the concrete patient data used at this decision point. The results were conducted, analyzed, and compared with those of the pure algorithmic simulation. Results : The treatment paths of patients with melanoma could be retrospectively simulated along the clinical algorithm using data from the patients' electronic health records. The subsequent evaluation by dermatooncologists showed that the data used at the three decision points had a completeness between 84.6% and 100.0% compared with the data used by the SOP. At one decision point, data on "patient age (at primary diagnosis)" and "date of first diagnosis" were missing. Conclusion s : The data needed for our decision points are available in the FHIR-based dataset. Furthermore, the data used at decision points by the SOP and hence the clinical algorithm are nearly complete compared with the data required by physicians in clinical practice. This is an important precondition for further research focusing on presenting decision points within a treatment process integrated with the patient data needed.

Introduction: The provision of knowledge through clinical practice guidelines and hospital-specific standard operating procedures (SOPs) is ubiquitous in the medical context and in the treatment of melanoma patients. However, these knowledge sources are only available in unstructured text form and without any contextual link to real patient data. The aim of our project is to give a modeled decision support for the next treatment step based on the actual data and position of a patient., Methods: First, we identified passages for qualified decision-making necessary at the point of care from the SOP for melanoma. Thereby, the patient-specific contextual reference data at decision points was considered in parallel and represented by FHIR (Fast Healthcare Interoperability Resource) resources. The decision algorithm was then formalized using BPMN modeling with FHIR annotations. Validation was provided by medical experts, dermatooncologists from University Hospital Essen., Results: The resulting BPMN model is presented here with the diagnostic procedure of sentinel lymph node excision as the example snippet from the whole algorithm. Each decision point is edited with FHIR resources covering the patient data and preparing the context sensitivity of the model., Conclusion: Modeling guideline-based information into a decision algorithm that can be presented at the point of care with contextual reference, may have the potential to support patient-specific clinical decision-making. For patients from a certain status like in the metastatic setting modeling becomes highly tailored to specific patient cases, alternative and individualized treatment options.

Every year, about 60 000 people in Germany contract colo-rectal carcinoma. Hereditary factors are the cause in approx. 5 % and those affected often fall ill at a young age. Often there are concrete indications of an individual high risk in affected families. The identification of persons at risk enables a targeted early detection and prevention of cancer as an important interdisciplinary medical task. The current AWMF guideline "Colorectal carcinoma" makes concrete statements in this regard., Competing Interests: Die Autoren sind in der Humangenetischen Abteilung des LADR Laborzentrum Recklinghausen tätig, die humangenetische Beratungen und genetische Diagnostik auch für erbliche Krebserkrankungen durchführt., (© Georg Thieme Verlag KG Stuttgart · New York.)

Background: Colorectal cancer is the most commonly occurring cancer in Germany, and the second and third most commonly diagnosed cancer in women and men, respectively. In this context, evidence-based guidelines positively impact the quality of treatment processes for cancer patients. However, evidence of their impact on real-world patient care remains unclear. To ensure the success of clinical guidelines, a fast and clear provision of knowledge at the point of care is essential., Objectives: The objectives of this study are to model machine-readable clinical algorithms for colon carcinoma and rectal carcinoma annotated by Unified Medical Language System (UMLS) based on clinical guidelines and the development of an open-source workflow system for mapping clinical algorithms with patient-specific information to identify patient's position on the treatment algorithm for guideline-based therapy recommendations., Methods: This study qualitatively assesses the therapy decision of clinical algorithms as part of a clinical pathway. The solution uses rule-based clinical algorithms, which were developed based on the corresponding guidelines. These algorithms are executed on a newly developed open-source workflow system and are visualized at the point of care. The aim of this approach is to create clinical algorithms based on an established business process standard, the Business Process Model and Notation (BPMN), which is annotated by UMLS terminologies. The gold standard for the validation process was set by manual extraction of clinical datasets from 86 rectal cancer patients and 89 colon cancer patients., Results: Using this approach, the algorithm achieved a precision value of 87.64% for colon cancer and 84.70% for rectal cancer with recall values of 87.64 and 83.72%, respectively., Conclusion: The results indicate that the automatic positioning of a patient on the decision pathway is possible with tumor stages that have a less complex clinical algorithm with fewer decision points reaching a higher accuracy than complex stages., Competing Interests: None declared., (Georg Thieme Verlag KG Stuttgart · New York.)

Background: Colorectal cancer is the most commonly occurring cancer in Germany, and the second and third most commonly diagnosed cancer in women and men, respectively. The therapy for this disease is based primarily on the tumor stages, which are usually documented in an unstructured form in medical information systems. In order to re-use this knowledge, the information must be extracted and annotated using the correct terminology., Methods: In this study, a natural language processing pipeline is developed to identify specific guideline-based patient information and to annotate it with Unified Medical Language System concepts for manual evaluation by a physician. The gold standard for one-time evaluation is determined using the human abstraction of 2513 German clinical notes from electronic health records., Results: Using this approach to process the narrative clinical notes on colorectal cancer for retrospective evaluation of the therapy recommendation, the algorithm achieves a precision value of 96.64% for tumor stage detection and 97.95% for diagnosis recognition with recall values of 94.89% and 99.54%, respectively. The average precision value across all concepts relevant to treatment decisions for patients with known cancer diagnoses (11 concept groups) achieved a precision value of 82.05% with a recall value of 82.45% and an F1-score of 81.81%, respectively., Conclusions: The identification of guideline-based information from narrative clinical notes has the potential for implementation as clinical decision support tools., (Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.)

Purpose: The purpose of this study is to characterize a novel structural variant, a large duplication involving exons 1-19 of the BRCA1 gene in four independent families, and to provide diagnostically valuable information including the position of the breakpoints as well as clues to its clinical significance., Methods: The duplication of exons 1-19 of the BRCA1 gene was initially detected by routine laboratory testing including MLPA analysis and next generation sequencing. For detailed characterization we performed array-comparative genome hybridization analysis, fluorescent in situ hybridization, next generation mapping, and long-distance PCR for break-point sequencing., Results: Our data revealed a tandem duplication on chromosome 17 that encompassed 357 kb and included exons 1-19 of the BRCA1 gene and the genes NBR2, NBR1, TMEM106A, LOC100130581, ARL4D, MIR2117 up to parts of the DHX8 gene. This structural variant appeared as a tandem duplication with breakpoints in intron 19 of the BRCA1 gene and in intron 3 of the DHX8 gene (HGVS:chr17(hg19):g.41210776_41568516dup). Segregation analysis indicated that this structural rearrangement is phased in trans with a known pathogenic exon deletion of the BRCA1 gene in one family., Conclusions: The copy number variation initially recognized as duplication of exon 1-19 of the BRCA1 gene by MLPA analysis is a structural variation with breakpoints in the BRCA1 and DHX8 genes. Although currently to be classified as a variant of unknown significance, our family data indicates that this duplication may be a benign variation or at least of markedly reduced penetrance since it occurs in trans with another known fully pathogenic variant in the BRCA1 gene.

The PIQ research project ("Pflege im Quartier") aims for optimizing communication and patient-centered care for elderly people by implementing a digital, patient-centered care platform, with particular attention is paid to the consideration of ethical, legal and social issues. In this work, an instrument for the ethical evaluation of social-technical arrangement was used to map features of the platform with ethical concerns. The results include precise ethical questions based on scenarios identified and possible solutions to address them, regarding the ethical and privacy issues. These insights will be continuously integrated in the future system design and implementation as well as research.

Requirements engineering of software products for elderly people faces some special challenges to ensure a maximum of user acceptance. Within the scope of a research project, a web-based platform and a mobile app are approached to enable people to live in their own home as long as possible. This paper is about a developed method of interdisciplinary requirements engineering by a team of social scientists in cooperation with computer scientists.

Clinical guidelines and clinical pathways are accepted and proven instruments for quality assurance and process optimization in the healthcare domain. To derive clinical pathways from clinical guidelines, the imprecise, non-formalized abstract guidelines must be formalized. The transfer of evidence-based knowledge (clinical guidelines) to care processes (clinical pathways) is not straightforward due to different information contents and semantical constructs. A complex step within this formalization process is the mark-up step and annotation of the text passages to terminologies. The Unified Medical Language System (UMLS) provides a common reference terminology as well as the semantic link for combining the clinical pathways to patient-specific information. This paper proposes a semi-automated mark-up and UMLS annotation for clinical guidelines by using natural language processing techniques. The algorithm has been tested and evaluated using a German breast cancer guideline.

Clinical guidelines and clinical pathways are accepted and proven instruments for quality assurance and process optimization. Today, electronic representation of clinical guidelines exists as unstructured text, but is not well-integrated with patient-specific information from electronic health records. Consequently, generic content of the clinical guidelines is accessible, but it is not possible to visualize the position of the patient on the clinical pathway, decision support cannot be provided by personalized guidelines for the next treatment step. The Systematized Nomenclature of Medicine - Clinical Terms (SNOMED CT) provides common reference terminology as well as the semantic link for combining the pathways and the patient-specific information. This paper proposes a model-based approach to support the development of guideline-compliant pathways combined with patient-specific structured and unstructured information using SNOMED CT. To identify SNOMED CT concepts, a software was developed to extract SNOMED CT codes out of structured and unstructured German data to map these with clinical pathways annotated in accordance with the systematized nomenclature.

Automatic information extraction of medical concepts and classification with semantic standards from medical reports is useful for standardization and for clinical research. This paper presents an approach for an UMLS concept extraction with a customized natural language processing pipeline for German clinical notes using Apache cTAKES. The objectives are, to test the natural language processing tool for German language if it is suitable to identify UMLS concepts and map these with SNOMED-CT. The German UMLS database and German OpenNLP models extended the natural language processing pipeline, so the pipeline can normalize to domain ontologies such as SNOMED-CT using the German concepts. For testing, the ShARe/CLEF eHealth 2013 training dataset translated into German was used. The implemented algorithms are tested with a set of 199 German reports, obtaining a result of average 0.36 F1 measure without German stemming, pre- and post-processing of the reports.

An interdisciplinary and intersectoral coordinated therapy management along Clinical Practice Guidelines can ensure that all patients receive adequate diagnostic, treatment, and supportive services that lead most likely to optimal outcomes. Within the research project "Virtual Oncological Networks", guideline-compliant pathways are defined and enacted within a Health Care Management Platform to support treatment planning and ongoing care of oncological diseases.

Interdisciplinary and intersectoral coordinated healthcare management based on Clinical Practice Guidelines is essential to achieve high quality in oncological networks. The objective of our research project is to create a cookbook, which can be used by oncological networks as a template. The cookbook is based on guideline-compliant care processes. To develop these care processes, the three S3-guidelines breast, colon and prostate carcinoma have been formalized. The thus-obtained platform-independent process fragments were transformed into an underlying metamodel, which is based on HL7 and can be used for modeling clinical pathways. Additional, qualitative guided interviews were chosen to capitalize on the experts' (e.g. chief residents, resident specialists) wide knowledge and experience in oncological health care management. One of these use cases (tumor board scheduling) is developed for a healthcare management platform which is linked to a national electronic case record. The projected result of our approach is a cookbook which shows, how the treatment can be controlled by interdisciplinary and intersectoral care processes in an oncological network.

Procurement and supply belong to the crucial supporting processes in hospitals. By providing the right products at the right time in the right quantity in the right place, these processes are of major importance for patient safety and the success of the primary hospital process cure and care. Though of such an importance, the hospital's internal and external procurement and supply processes are still not performed seamlessly by information systems, due to a variety of electronic standards for procurement and supply. These different standards and missing guidelines for electronic procurement and supply in the healthcare domain lead to little or no interoperability between the participating procurement and supply systems. Consequences can be delayed or wrong supply, and increased costs. To overcome this deficiency this work describes the derivation of a common guideline for the implementation of electronically enabled supply processes in the healthcare domain based upon the identification of commonly used electronic standards and detailed specifications of procurement processes in hospital facilities.

Background: Healthcare providers are facing an enormous cost pressure and a scarcity of resources. They need to realign in the tension between economic efficiency and demand-oriented healthcare. Clinical guidelines and clinical pathways are used in German hospitals to improve the quality of care and to reduce costs at the same time. Clinical guidelines provide evident medical knowledge for diagnostic and therapeutic issues, while clinical pathways are a road map of patient management. The consideration of clinical guidelines during pathway development is highly recommended. But the transfer of evident knowledge (clinical guidelines) to care processes (clinical pathways) is not straightforward due to different information contents and structures., Methods: We propose a model-based approach to support the development of guideline-compliant pathways and the generation of ready-to-use pathway models for different hospital information systems. A meta-model merges the structures of clinical guidelines and clinical pathways into one generic model. It is encoded through artefacts of Health Level 7 (HL7) in version 3. The deployment process to integrate the defined guideline-compliant pathways into different target systems is supported by an ontology management approach., Results: We defined a step-by-step instruction for translating the narrative guideline content into formalized care processes. The meta-model provides all necessary structures to capture the pertinent knowledge. The entire process of defining and deploying guideline-compliant pathways is supported by one consistent IT system. The deployment process is designed detached from specific systems so that the defined pathways can be enacted within different hospital information systems (HIS)., Conclusions: The approach enables hospitals to develop guideline-compliant pathways and to integrate them into their HIS without time-consuming manual transformations. That way, best practice advices based on clinical guidelines can be provided at the point of care and therefore improve patient treatment.

Objective: We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in prepubertal short-statured children and analyzed the clinical and radiological signs., Methods: Screening for SHOX deficiency was performed in 449 prepubertal short-statured children (54% females, aged 4-10 years) by direct sequencing and multiplex ligation probe-dependent amplification. Children with SHOX deficiency were compared to 1:2 age- and gender-matched prepubertal children without SHOX deficiency with respect to left-hand radiographs and anthropometrics including different ratios to height and proposed scores., Results: We identified 22 (4.9%) patients with SHOX deficiency (64% point mutations). Children with SHOX deficiency demonstrated a mesomelic shortening of extremities. Lower leg lengths but not forearm length was reduced in children <8 years with SHOX deficiency. 36% of all children and none of the children <8 years with SHOX deficiency demonstrated any typical radiologic sign. Increased sitting height-to-height ratio and decreased extremities-to-trunk ratio demonstrated the best positive and negative predictive values to identify SHOX deficiency., Conclusions: Screening for SHOX deficiency seems rational, especially in children with increased sitting height-to-height ratio or decreased extremities-to-trunk ratio. These criteria were also valid in young children., (© 2013 S. Karger AG, Basel.)

Clinical guidelines and clinical pathways are accepted instruments for quality assurance and process optimization. Defining a standardized patient treatment for a specific disease clinical guidelines provide evident medical knowledge for diagnostic and therapeutic issues in form of narrative recommendations. Clinical pathways offer process-like descriptions defining daily diagnostic and treatment procedures. The use of evident knowledge (in form of clinical guidelines) during pathway development is highly recommended. But the transfer of unstructured recommendations to care processes (clinical pathways) is not straightforward. This article proposes a model-based approach to support the development of guideline-compliant pathways and focuses their deployment into different target systems. Especially HIS (hospital information system) are considered as this is the critical system for managing patient care processes in the hospital. So the results of latest research provided by clinical guidelines are implemented into daily practice and therefore improve patient care.

Healthcare providers are facing an enormous cost pressure, wherefore the assurance of an efficient care on a high level of quality is of decisive importance. Clinical guidelines and clinical pathways have been established for that purpose. Clinical guidelines offer abstract recommendations for diagnostic and therapeutic issues, while clinical pathways are a road map of patient management. The consideration of clinical guidelines during pathway development is highly recommended. But the transfer of evident knowledge (clinical guidelines) to care processes (clinical pathways) is not straightforward due to different information contents and semantical constructs. This article proposes a model-driven approach in conjunction with a developed knowledge acquisition tool to improve the development of guideline-compliant pathways.

Background: Tumor cells that shed into stool are attractive targets for molecular screening and early detection of colon or pancreatic malignancies. We developed a diagnostic test to screen for 10 of the most common mutations of codons 12 and 13 of the K-ras gene by hybridization to a new biochip array., Methods: DNA was isolated from 26 stool samples by column-based extraction from 9 cell lines. Peptide nucleic acid (PNA)-mediated PCR clamping was used for mutant-specific amplification. We used a biochip, consisting of a small plastic support with covalently immobilized 13mer oligonucleotides. The read out of the biochip was done by confocal time-resolved laser scanning. Hybridization, scanning, and data evaluation could be performed in <2 h., Results: Approximately 80 ng of DNA was obtained from 200-mg stool samples. No inhibition of the PCR by remaining impurities from stool was observed. Mutation detection was possible in 1000-fold excess of wild-type sequence. Discrimination ratios between the mutations were >19 as demonstrated by hybridization with tumor cell line DNA. Stool samples (n = 26) were analyzed in parallel with PNA-PCR, restriction assay for K-ras codon 12 mutations, sequencing, and hybridization to the biochip. Nine mutations were found by hybridization, all confirmed by sequencing. PNA-PCR alone leads to an overestimation of mutations because suppression of the wild type is not effective enough with high concentrations of wild-type DNA. The restriction assay found only four mutations., Conclusions: The K-ras biochip is well suited for fast mutation detection from stool in colorectal cancer screening.

The failure to reduce the mortality of patients with solid tumors is mainly a result of the early dissemination of cancer cells to secondary sites, which is usually missed by conventional diagnostic procedures used for tumor staging. PCR was shown to be superior to conventional techniques in detecting circulating tumor cells and micrometastases allowing the identification of one tumor cell in up to 10(7) normal cells in various sources such as blood, bone marrow, lymph nodes, urine or stool. The methods used are based on the detection of either genomic alterations in oncogenes and tumor suppressor genes or on the mRNA expression of tissue-specific and tumor-associated genes. The additional implementation of techniques for cancer cell purification had a significant impact on analytical sensitivity and specificity of MRCC detection. For patients with e.g. melanoma, breast, colorectal or prostate cancer it was demonstrated that the presence of disseminated cancer cells defines a subgroup of patients with reduced time to recurrence. The possibility to use easily accessible body fluids as a source for MRCC detection enables longitudinal observations of the disease. In this review we discuss the potential of molecular characterization of MRCC as a tool to improve prognostication, therapy selection and drug targeting as well as therapy monitoring.