Implementation of a functional genomics strategy for undiagnosed hereditary cancers
The most relevant challenge associated with the use of genomic medicine in the diagnosis of genetic diseases in the context of precision medicine is the identification of variants of unknown significance (VUS), which do not have clinical applicability. Working together with the IMPaCT-Genómica initiative, which has developed the basic workflows to evaluate unsolved cases with a suspected genetic disease, the IMPaCT-VUSCan project aims to implement a comprehensive functional genomics strategy to solve a higher number of unsolved cases with suspected predisposition to cancer, using -omics information, in silico approaches and AI-based clinical decision support tools. In the end, this strategy will improve diagnosis, prediction and treatment of families suffering from hereditary cancer, and will shed light on new pathological mechanisms of cancer.
