Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future...

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.