Clinical bioinformatics desiderata for molecular tumor boards

Abstract

Clinical Bioinformatics is a knowledge framework required to interpret data of medical interest via computational methods. This area became of dramatic importance in precision oncology, fueled by cancer genomic profiling: most definitions of Molecular Tumor Boards require the presence of bioinformaticians. However, all available literature remained rather vague on what are the specific needs in terms of digital tools and expertise to tackle and interpret genomics data to assign novel targeted or biomarker-driven targeted therapies to cancer patients. To fill this gap, in this article, we present a catalog of software families and human skills required for the tumor board bioinformatician, with specific examples of real-world applications associated with each element presented.

Keywords: biobanking; clinical bioinformatics; clinical informatics; data engineering; decision support tools; molecular tumor board; molecular tumor registry; variant actionability; variant annotation.

Figure 1

High-level representation of software families and the data flows in molecular tumor boards. Colored circles enclosed in boxes indicate the technologies and tools that allow for interaction among different entities. Dashed lines provide more details on entities. Keys indicate the mandatory fields that are required for database queries.

Figure 2

Graphical representation of the required human skillset, following sample processing, analysis, and interpretation. Color coding follows skill clustering as in Table S2.