German Guidelines for Molecular Genetic Diagnostic Testing Using High-throughput Technology, Such As Next-Generation Sequencing

Abstract

Listen

Translate article

We present, on behalf of the German Society of Human Genetics, guidelines for molecular genetic diagnostics with high throughput technology, for example using Next-Generation Sequencing. This work was put together by a group of experts and included public commenting of the members of the German Society of Human Genetics. While experts appreciated the fundamental work of the EuroGentest guidelines for diagnostic next-generation sequencing, we identified a couple of new as well as country-specific topics that we have included in the document. First of all, a plausibility check of a diagnostic order is introduced to safeguard patient’s interests, test precision, and resources. Moreover, we felt that the criterion of “diagnostic yield” is no longer a primary parameter for defining suitable test formats; rather a concept of ‘clinical diagnostic benefit’ has to be considered. Publicly available gene lists for diagnostic interpretation, and a qualification of core genes which are supposed to be analyzed in highest quality and completeness, have already been put forth be others. For German laboratories, integration of high throughput diagnostics into an economically and medically efficient individual concept is essential to fulfil regulatory standards. While we endorsed almost all technical statements of the EuroGentest guidelines, for reporting, we introduce a model of knowledge integration between the laboratory and the ordering physician, allowing for more specific and better reporting in the individual medical context. Last but not least, a clear demarcation separating diagnostic tests from research analyses has been delineated.