journal of biomedical informatics
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Standardizing the Transmission of Genomic-Related Medical Data for the Optimization of Diagnostics and Research in the Field of Oncological Diseases

Author(s): Elisabeth Pantazoglou, Martin Thoma, Lasse van de Sand, Heike Dewenter, Sylvia Thun

Introduction: In Germany, there is currently no consistent analytic structure within genomic diagnostics in oncological diseases. Within the framework of the project GENeALYSE, a standardized and interoperable specification 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 workflows and relevant findings will be displayed and adapted. In particular, the heterogeneous workflows in genome diagnostics will be represented by semantic annotation in an international terminology. The results of the semantic annotation build the basement for the creation of an implementation guide for standardized genome analytics, referring to HL7 Clinical Document Architecture (HL7 CDA).

Discussion: The problems of heterogeneous genomic diagnostics as well as unstructured findings in oncology leave the actors face comparable challenges on a regional and supranational level. Interfaces, ambiguous semantics and manual activities inhibit interoperability, promote errors and lead to risks for patients and their sufficient 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 international terminologies as well as appropriate mapping techniques.

Conclusions: The aim of the project is to create an implementation guide for standardized digital documentation and communication solutions between diagnostics, medical therapy and research in the field of genome analysis. GENeALYSE is intended to optimize the coordination between the diagnostic 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 affected patients.