A Rule-Based Expert System for Automatic Implementation of Somatic Variant Clinical Interpretation Guidelines

Precision oncology aims at integrating molecular data into clinical decision making, in order to provide the most suitable therapy and follow-up according to patient’s specific characteristics. A critical step towards this goal is the interpretation of genomic variants, whose presence can be revealed by next generation sequencing. In particular, cancer variant interpretation defines whether the patient harbors genomic alterations that could be targeted by specific drugs, or that were observed as prognostic biomarkers. To standardize somatic interpretation, in 2017 guidelines have been proposed by a working group of associations, including the American Society of Clinical Oncology (ASCO). Automatic tools implementing such guidelines to ease their actual application in the clinical routine are needed.