In a recent paper published in the Briefings in Bioinformatics, the authors discuss bioinformatics approaches to next-generation sequencing (NGS)-based precision oncology, including variant calling, annotation, interpretation, drug matching and reporting in a molecular tumor board setting. The article describes the workflow of a molecular tumor board and the specific bioinformatics support that it requires, from the primary analysis of raw molecular profiling data to the automatic generation of a clinical report and its delivery to decision-making oncologists.

Such bioinformatics workflows have to various degrees been implemented in many clinical trials, as well as in molecular tumour boards at specialised cancer centres and university hospitals worldwide. The goal is to profile the genetic aberrations of tumors such as single-nucleotide variants, copy number variants, insertions and deletions, structural variants and gene fusions, and to suggest potential molecular-based treatments. These approaches can be organised either as a single institutional molecular tumor board or as a basket trial.

Molecular tumor boards are now widespread in the USA, Europe and Australia with reported patient numbers to date ranging up to 2000 patients per cancer center. Ideally, a biopsy is taken on tumor progression from the last therapy to resemble the current genetic state of the evolved tumor. However, some molecular tumor board approaches also profile biopsies sampled at diagnosis.