Skip to main content

Hot Topics: Liquid Biopsy Cancer Diagnostics and Application of Immunogenomics to Cancer Therapy


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.


  • Eli Williams, PhD, FACMG.

    I currently serve as the Medical Director of Genomics at the University of Virginia, overseeing clinical activities of the clinical cytogenetics and clinical genomics labs. I also serve as the Thread Leader for Genomic Medicine for the UVA School of Medicine, responsible for coordinating and reviewing all genetic content for UVA medical students. I have been at UVA for 6 years following completion of the ABMGG training program in both clinical cytogenetics and clinical molecular genetics at Emory University. My primary interest is in the effective application of genetic/genomic technology in medicine.

  • Tuya Pal, MD, FACMG.

    Dr. Pal is a board-certified clinical geneticist based at the Vanderbilt University Medical Center and is the Associate Director of Cancer Health Disparities at the Vanderbilt-Ingram Cancer Center. Her research is focused on identification of genetic risk factors that place individuals at a higher risk for cancer, as well as strategies to reduce this risk. These efforts have included a focus on underserved populations, particularly young Black women with breast cancer. She has also led multiple efforts to better understand the provision of clinical cancer genetic services across diverse populations, healthcare settings, and providers, at both the patient and provider level. The focus of her clinical activities has encompassed evaluation of patients referred for genetic risk assessment for inherited cancer predisposition. She has served as a panel member of the NCCN guidelines committee (for hereditary breast/ovarian cancer) since 2009 as well as a member of the NCI Cancer Genetics PDQ.

  • Heather A. Parsons, MD, MPH.

    Dana Farber Cancer Institute, Boston, MA, USA.

  • Elaine Mardis, PhD.

    Elaine Mardis, PhD is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Nationwide Foundation Endowed Chair of Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016. Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016.
    Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting and is the current AACR President. She was elected a Fellow of the AACR Academy in 2019.

March 20, 2020
Fri 9:00 AM CDT

Duration 1H 0M

Already Registered?