Introduc on: In Germany, there is currently no consistent analy c structure within genomic diagnos cs in oncological diseases. Within the framework of the project GENeALYSE, a standardized and interoperable specifi ca on for associated uses cases shall be developed. Intended Methods: Through process analysis and interface modeling, problems of the actual processes will be depicted between the involved actors. In the next step, the workfl ows and relevant fi ndings will be displayed and adapted. In par cular, the heterogeneous workfl ows in genome diagnos cs will be represented by seman c annota on in an interna onal terminology. The results of the seman c annota on build the basement for the crea on of an implementa on guide for standardized genome analy cs, referring to HL7 Clinical Document Architecture (HL7 CDA). Discussion: The problems of heterogeneous genomic diagnos cs as well as unstructured fi ndings in oncology leave the actors face comparable challenges on a regional and suprana onal level. Interfaces, ambiguous seman cs and manual ac vi es inhibit interoperability, promote errors and lead to risks for pa ents and their suffi cient medical treatment. A major challenge will be consistency between the heterogeneous terms to be found in genome analysis. The problem shall be addressed via using interna onal terminologies as well as appropriate mapping techniques. Conclusions: The aim of the project is to create an implementa on guide for standardized digital documenta on and communica on solu ons between diagnos cs, medical therapy and research in the fi eld of genome analysis. GENeALYSE is intended to op mize the coordina on between the diagnos c genome laboratory and the clinical therapy decision in order to increase the safety and success of medical treatment, as well as to improve the health-related quality of life of the aff ected pa ents.
Modern diagnostic methods (next-generation sequencing) are one of the current hopes with regard to a personalised medicine. By applying detailed genetic analysis, it is possible to not only improve the prediction of potential risks (as, e.g., concerning hereditary breast cancer) but also the precision of therapy by targeting it to a specific genetic variant. However, there is no international standard for creating, structuring and/or transferring the results of a genetic test report. This type of test report often contains large amounts of complex information, and a standardised and consistent structure would offer potential benefits to all. These include reduced expenditure of time (due to the elimination of information-conversion steps), improved safety (due to a reduction in the occurrence of transmission errors, misunderstanding or misinterpretation of content) and improved clinical information gathering (by the respective linkage to scientific data and literature). Especially in regard to secondary use, a standardised (electronic) format would improve the suitability of these data in retrospective studies and basic research. In this study, we analysed the format and content of 96 genetic testing reports (germline and somatic) from Germany, Switzerland and Austria. Based on these results, we summarised and discussed potentially critical data that were demonstrated to be reported inconsistently, and propose a baseline structure for reporting that would also ease future electronic conversion.
Objective With almost 30,000 new cases per year, urothelial carcinomas account for a significant proportion of cancer cases in Germany. Respective guidelines serve to help pathologists evaluate tumor material according to international classification standards, but to ensure interoperability, further regulations are required. Therefore, the study presented in this work aimed at improving the informational situation by evaluating the applicability of the international terminologies in the scope of urothelial carcinoma in Germany. Methods Based on the S1-guideline "Urothelkarzinom", a collection of terms recommended for a pathology vocabulary was compiled and mapped to SNOMED CT (Systematic Nomenclature of Medical Terms), LOINC (Logical Observation Identifiers Names and Codes) and ICD-11 (International Classification of Diseases 11th Revision), respectively. Results Of the 168 terms required, 163 (97.02%) could be mapped to SNOMED CT, 66 (39.29%) to LOINC and 70 (41.67%) to ICD-11. However, considering the equivalence of each coding and restricting the mapping accordingly resulted in significantly lower coverage. When aiming at absolute equivalence, even combining all three terminologies resulted in only 138 (82.14%) terms being mappable adequately. Discussion Results prove that currently even combining established terminologies does not cover the terms required for a standardized documentation of urothelial findings completely. They also highlight the importance of SNOMED CT, as within this study it provided the largest proportion of mappable terms. Results also clearly demonstrated that especially SNOMED CT and LOINC require extensive knowledge on the respective terminology itself as well as on the respective medical field to ensure reliable mappings.
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