Panel Sequencing for Targeted Therapy Selection in Solid Tumors

Key points

Introduction

Over the past 1 to 2 decades, molecular diagnostics has shifted from a focus on single gene or even single mutation target testing toward panel-based testing in many human diseases. In cancer management in particular, panel-based strategies provide a more effective strategy for the identification of the growing number of tumor and germline variants that have diagnostic, prognostic, and predictive usefulness. Within the realm of solid tumors, panel-based testing has gained traction in clinical practice, both owing to an ever-increasing number of therapeutically relevant targets, as well as greater assay accessibility and increasingly streamlined workflows. Next-generation sequencing (NGS) has largely driven this revolution because it permits massively parallel sequencing of a customizable number of genes and gene targets with relatively good analytical sensitivity. For the purposes of this review, panel-based testing is defined as the aggregation of genomic regions of interest into a single assay. This practice is in contrast with the interrogation of single exons and/or genes via standalone tests run in parallel or sequentially. We explore panel-based testing, including its history, current usefulness, and special considerations. We also show examples of the successes and challenges of panel-based sequencing and discuss potential future directions.