Precision genomic medicine is now being delivered to cancer clinics thanks to recent developments. While the bulk of methods focused on profiling panels of chosen genes or hotspot areas, whole-genome and transcriptome sequencing and analysis (WGTA) offered complete data that may be used to match patients with medicines better.

A total of 570 individuals with various forms of advanced or metastatic cancer enrolled in the Personalized OncoGenomics (POG) program and had their samples put through WGTA. To create thorough WGTA profiles, DNA-based information such as mutations, copy numbers, and mutation signatures was merged with RNA-based information such as gene expression and fusions. WGTA profiles were utilized by a multidisciplinary molecular tumor board to detect and rank clinically actionable changes and guide treatment. Researchers gathered patient feedback on therapy informed by the WGTA.

For 83% of patients, clinically actionable targets were found, and 37% of those patients underwent therapies based on the WGTA. In particular, RNA expression data were insightful, leading to 67% of WGTA-informed therapies; just 25% of treatments were based solely on RNA expression. 46% of the 248 WGTA-informed therapies produced clinical benefits. Those on RNA expression that were aligned to clinically helpful therapies were comparable to DNA-based mutation and copy number data. Additionally, platinum, poly-ADP ribose polymerase inhibitors, and immunotherapies were all guided by genome signatures. Patients were able to access WGTA-informed therapies through clinical trials (19%), off-label use (35%), and standard therapies (46%), including those that would not have otherwise been the next treatment option. It illustrated the value of genomic information in directing the use of chemotherapies as well as targeted therapies.

The use of thorough WGTA profiling in clinical cancer care was supported by the integration of RNA expression and genome data, which revealed therapy choices that led to 46% of treated patients enjoying a good therapeutic benefit.

Reference: annalsofoncology.org/article/S0923-7534(22)01723-9/fulltext