SC25: Detection and Characterization of Circulating Biomarkers

Thursday, March 10 | 6:30 – 9:00 pm

Co-Organized with

INSTRUCTORS:

Mathias Ehrich, M.D., Senior Vice President, Research & Development, Sequenom
Sonya Parpart-Li, Ph.D., Associate Scientist, Personal Genome Diagnostics
Nishant Agrawal, M.D., Professor, Surgery; Director, Head and Neck Surgical Oncology, University of Chicago
Chetan Bettegowda, M.D., Ph.D., Assistant Professor, Neurosurgery and Oncology, Johns Hopkins University School of Medicine

DETAILED AGENDA:

6:30pm Dinner Served

6:45 Liquid Biopsy as a Substitute for Tissue Biopsy Using a Comprehensive NGS Panel

Daniel S. Grosu, M.D., M.B.A., CMO, Sequenom, Inc.

Detection and quantitation of circulating tumor DNA promises to revolutionize patient management in Oncology. A rapidly emerging application of this technology is the use of "liquid biopsies" for profiling potentially actionable genomic alterations in cancer patients, when tissue material for genomic analysis is not available. The presentation will review the performance of a novel, comprehensive NGS panel that simultaneously interrogates multiple classes of genomic alterations in a large number of cancer-related genes across a variety of tumor types.

7:15 Emerging Applications and Clinical Impact of Liquid Biopsy Approaches in Cancer

Sonya Parpart-Li, Ph.D., Associate Scientist, Personal Genome Diagnostics

This presentation will focus on the impact of circulating tumor biomarkers on personalized medicine in oncology. In addition to guiding therapeutic decisions, circulating biomarkers cancer can allow for early detection and monitoring of disease.

7:45 Break

8:00 Detection of Somatic Mutations in Bodily Fluids of Patients with Cancer

Nishant Agrawal, M.D., Professor, Surgery; Director, Head and Neck Surgical Oncology, University of Chicago

Mutations are the predominant genetic defects in solid tumor malignancies and are, in part, the seminal difference between cancer and normal tissues. Human tumors harbor mutations that collectively create a unique genetic signature that can be used to identify a tumor with exceedingly high specificity. These mutations can be detected in bodily fluids and blood of cancer patients as DNA fragments that are continuously shed. Non-invasive detection of tumor DNA through identification of somatic mutations in bodily fluids could have an impact on early detection, surveillance, and monitoring of cancer patients.

8:30 pm Plasma Based Detection of Tumor Derived DNA in Human Malignancies

Chetan Bettegowda, M.D., Ph.D., Assistant Professor, Neurosurgery & Oncology, Johns Hopkins University School of Medicine

The development of noninvasive methods to detect and monitor tumors continues to be a major challenge in oncology. We used digital polymerase chain reaction-based technologies to evaluate the ability of circulating tumor DNA (ctDNA) to detect tumors in 640 patients with various cancer types. We found that ctDNA was detectable in >75% of patients with advanced pancreatic, ovarian, colorectal, bladder, gastroesophageal, breast, melanoma, hepatocellular, and head and neck cancers, but in less than 50% of primary brain, renal, prostate, or thyroid cancers. In patients with localized tumors, ctDNA was detected in 73, 57, 48, and 50% of patients with colorectal cancer, gastroesophageal cancer, pancreatic cancer, and breast adenocarcinoma, respectively. ctDNA was often present in patients without detectable circulating tumor cells, suggesting that these two biomarkers are distinct entities. In a separate panel of 206 patients with metastatic colorectal cancers, we showed that the sensitivity of ctDNA for detection of clinically relevant KRAS gene mutations was 87.2% and its specificity was 99.2%. Finally, we assessed whether ctDNA could provide clues into the mechanisms underlying resistance to epidermal growth factor receptor blockade in 24 patients who objectively responded to therapy but subsequently relapsed. Twenty-three (96%) of these patients developed one or more mutations in genes involved in the mitogen-activated protein kinase pathway. Together, these data suggest that ctDNA is a broadly applicable, sensitive, and specific biomarker that can be used for a variety of clinical and research purposes in patients with multiple different types of cancer.

9:00 Close of Course

INSTRUCTOR BIOGRAPHIES:

Mathias Ehrich, M.D., Senior Vice President, Research & Development, Sequenom

Dr. Ehrich is SVP of R&D serving in various scientific and management roles within Sequenom. His contributions include the development of a high throughput quantitative DNA methylation analysis method, as well as the development of the first of its kind, NIPT for fetal chromosomal abnormalities. He received his Doctor of Medicine (MD) degree from the University of Hamburg in Germany.

Sonya Parpart-Li, Ph.D., Associate Scientist, Personal Genome Diagnostics

Sonya Parpart-Li received her Ph.D. in Tumor Biology from Georgetown University as part of a Graduate Partnership Program with the National Institutes of Health. Her dissertation work focused on deciphering heterogeneity among hepatocellular carcinoma (HCC) patients at the molecular level using microarrays, functional assays and bioinformatics analysis to assess gene expression and methylation status. In 2014 she joined Personal Genome Diagnostics (PGDx) as part of their R&D team where she has developed next-generation sequencing based cancer diagnostics to address tumor heterogeneity and to detect clinically actionable genetic mutations in a multitude of cancer types. More recently, she helped launch a comprehensive noninvasive diagnostic test for detection of sequence mutations and structural alterations in circulating tumor DNA shed into the blood

Nishant Agrawal, M.D., Associate Professor, Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine

Nishant Agrawal lives in Baltimore with his wife, Vidushi, and their 2 year old son, Ariv. Nishant grew up in New Jersey and attended Rutgers for college. He graduated from Johns Hopkins University School of Medicine where he stayed to do an Otolaryngology-Head and Neck Surgery residency. He went to Memorial Sloan Kettering Cancer Center for a head and neck surgical oncology fellowship. At Hopkins, his clinical area of focus is head and neck surgical oncology and his research interest is in the genetics of head and neck cancers and circulating tumor DNA as a biomarker. He is an associate professor in the Departments of Otolaryngology-Head and Neck Surgery and Oncology.

Chetan Bettegowda, M.D., Ph.D., Assistant Professor, Neurosurgery & Oncology, Johns Hopkins University School of Medicine

Dr. Chetan Bettegowda offers comprehensive treatments for adult patients with benign and malignant brain tumors, specializing in the treatment of patients with primary brain tumors such as gliomas, meningiomas and pituitary tumors. He performs both open surgery and stereotactic radiosurgery for patients with metastatic tumors to the brain, and also provides stereotactic radiosurgery for other neurological disorders, including spinal tumors, trigeminal neuralgia and skull-base tumors.