A Review of Precision Oncology Knowledgebases for Determining the Clinical Actionability of Genetic Variants

Affiliations

PMID: 32117976
PMCID: PMC7026022
DOI: 10.3389/fcell.2020.00048

Abstract

The increased availability of tumor genetic testing and targeted cancer therapies contributes to the advancement of precision medicine in the field of oncology. Precision oncology knowledgebases provide a way of organizing clinically relevant genetic information in a way that is easily accessible for both oncologists and patients, facilitating the genetic-based clinical decision making. Many organizations and companies have built precision oncology knowledgebases, intended for multiple users. In general, these knowledgebases offer information on cancer-related genetic variants as well as their associated diagnostic, prognostic, and therapeutic implications, but they often differ in their information curations, designs, and user experiences. It is advisable that oncologists use multiple knowledgebases during their practice to have them complement each other. In the future, convergence toward common standards and formats is needed to ensure that the comprehensive knowledge across all sources can be unified to bring the oncology community closer to the achievement of the goal of precision oncology.

Keywords: actionability; genotype-selective clinical trial; knowledgebase; precision oncology; targeted therapy; tumor genetic testing; variant interpretation.