Comprehensive molecular profiling and deep clinical annotation of electronic health records in patients with cancer: Implementation of the Avera/Sema4 oncology and analytics protocol (ASAP) in gynecologic oncology

Precision medicine represents a new era in oncology and population health. Comprehensive molecular profiling and hereditary cancer testing are increasingly important in the routine management of many malignancies, yet may not be widely adopted in many practices. This leads to patients not consistently receiving care recommended by current national guidelines, such as NCCN and ASCO, with a disproportionate burden on patients from underserved communities. In addition, available targeted DNA sequencing panels may be limited to only defined drivers and lack detection in precancerous conditions. Whole exome sequencing (WES) combined with whole transcriptome sequencing (WTS) represents an expanded testing approach that identifies additional genetic changes beyond standard commercial panel tests. Current evidence suggests that WES/WTS is feasible to carry out in routine clinical practice, with improved detection of somatic alterations compared to smaller panels and the promise to enhance access to targeted therapies and clinical trials.