In terms of content expressivity and international usability, the potential of SNOMED CT in eHealth applications can be considered more favorable than ICD-11 or ICHI, even considering the original scope of these classifications, diagnoses and procedures. ICHI may even be recommended for specific use cases (e. g. statistics).
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.
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