Variant interpretation and genomic medicine

Abstract

Despite advances in sequencing technologies and reductions in sequencing costs, linking an individual's genetic variation to their risk of developing disease remains an ongoing clinical medicine challenge. Genetic variants found in an individual are commonly divided into five categories: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign. These classifications aim to reflect the level of confidence supporting an individual variant causing a phenotype in an individual. In the era of precision medicine, improving these classifications is of profound importance for clinical management.