An accelerated rate of major advances have occurred in genetics and genomics in recent years. This session focuses on exciting and evolving developments happening in two areas of high interest to the cancer genetics community.
Dr. Heather Parsons will highlight the increasing use of liquid biopsies in cancer detection, characterization, and monitoring. The use of cell free circulating tumor DNA as an analyte offers minimally invasive approaches for molecular tumor profiling in a variety of cancers. The presentation will focus on the technical challenges and opportunities of liquid biopsies in general as well as describe the specific impact in breast cancer diagnostics.
Dr. Elaine Mardis will share how NGS-based DNA and RNA data are being analyzed in the context of immunogenomics. The discussion will include the use of NGS data to characterize tumor mutational burden, to identify neoantigens through publically available pVACtools approaches, and to develop personalized neoantigen vaccines for cancer patients. She will also describe development of a clinical test for patients with endometrial cancer to identify genomic alterations that suggest immunotherapy-based treatments.