5-10-2022

The process of variant classification and its implications for clinical management

Maurizio Genuardi is an academic clinical geneticist, full professor of Medical Genetics at the Catholic University in Rome and head of Medical Genetic Services at the Policlinico Gemelli University Hospital in Rome, Italy. He is currently Vice-President of the European Society of Human Genetics.

The expanding use of genomic tests has led to an exponential increase in the number of identified DNA sequence variants. This webinar will deal with: 1. the datasets used for variant classification according to their pathogenicity; 2. General vs gene-specific criteria for interpretation; 3. Clinical utility and actionability of the genes tested (and of the variants identified): this is especially important since several variants are identified nowadays in genes whose clinical consequences are disputed or not well defined.