P740: Impact of gene-disease relationship curation on patient diagnostics and panel design

One of the major challenges for diagnostic laboratories is the evaluation of the clinical impact of genetic variants, with an important step being the establishment of gene-disease relationship (GDR). GDR is not only essential for the accurate interpretation of genetic findings during the analysis of exome and genome data, but also for variant classification and it is an important component in the design of diagnostic gene panels in terms of clinical sensitivity, specificity, and validity. In fact, despite the widely recognized benefits of exome and genome sequencing, gene panels may still be the preferred option in cases where cost-effectiveness and targeted analysis are prioritized while minimizing secondary findings.