The demand for predictive cancer biomarkers has increased exponentially as the treatment paradigm has shifted to a more personalized approach. Cambridge Healthtech Institute's Seventh Annual Predictive Cancer Biomarkers event will focus on functionalizing cancer genomics by identifying and prioritizing cancer biomarkers, addressing techniques for interrogating cancer genes, and examining how to use next-generation sequencing to guide treatment. Circulating tumor cells and DNA, the next generation of predictive biomarkers, will also be explored with particular emphasis on their viability as a diagnostic and prognostic tool.
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TUESDAY, AUGUST 19
7:30 am Main Conference Registration & Morning Coffee
8:30 Chairperson’s Opening Remarks
8:40 KEYNOTE PRESENTATION: The Vision and the Reality: One Cancer Center’s Journey toward Genomic Medicine
Jeff Boyd, Ph.D., Senior Vice President, Molecular Medicine; The Robert C. Young, M.D., Chair in Cancer Research; Executive Director, Cancer Genome Institute; Chief, Division of Molecular Pathology; Professor, Cancer Biology Program, Fox Chase Cancer Center
9:10 Clinical Validation Studies of Chemopredictive Gene Expression Profiles in Breast Cancer
W. Fraser Symmans, M.D., Professor & Director, Research Operations, Department of Pathology, UT MD Anderson Cancer Center
This presentation will discuss a method to quantify intratumor heterogeneity of cancers using gene expression data. We compared gene expression heterogeneity between different molecular subtypes of breast cancer and between basal like cancers with or without pathologic complete response (pCR) to neoadjuvant chemotherapy. We concluded that breast cancer subtypes differ in intratumor gene expression heterogeneity. Greater degree of heterogeneity correlate with greater chemotherapy sensitivity. Importantly, among basal-like cancers only the heterogeneity metric differed significantly between cases with pCR or RD but not individual genes expression values or gene signatures.
9:40 Clinical NGS in Oncology: MD Anderson Experience
Rajyalakshmi Luthra, Ph.D., Director, Molecular Diagnostic Laboratory (MDL) and Molecular Genetic Pathology Fellowship Program; Medical Advisor, Molecular Genetic Technology Program, School of Health Professions; Professor, Hematopathology, The University of Texas MD Anderson Cancer Center
Rapid advancements in next generation sequencing technologies are enabling transition of high throughput genotyping of cancer genome from research in to clinical arena. This presentation will discuss the extensive experience gained in clinical NGS-based targeted sequencing of cancer specimens using Ion Torrent PGM (Life Technologies) and MiSeq (Illumina) and challenges associated with data processing, interpretation and reporting.
10:10 Coffee Break in the Exhibit Hall with Poster Viewing
10:55 Chairperson’s Remarks
Rajyalakshmi Luthra, Ph.D.,University of Texas MD Anderson Cancer Center
11:00 “Personalized” Breast Cancer Treatment
Peter J. Tonellato, Ph.D., Director, Laboratory for Personalized Medicine, Center for Biomedical Informatics, Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School
Essential to a future of preventive and predictive medicine is the integration of whole genome technologies into clinical and health practice. We pursue the use of whole genome sequencing in breast cancer care to create a post-genome paradigm shift in health, disease prevention, and personalized medicine. These and parallel efforts though difficult, will catalyze the adoption and widespread implementation of the post-genome competency and thereby promote the era of personalized medicine.
11:30 Development and Implementation of Clinical NGS Testing: Assay Development and Informatic Challenges
Robert D. Daber, Ph.D., Director, Research and Development and Sequencing Operations, Bio-Reference Laboratories
As genomic technologies continue to advance and new bio-markers emerge, rapid NGS assay development becomes critical in the age of Precision Diagnostics. Here we will discuss emerging methods to capture important biological markers and their associated informatic challenges during both the development and implementation phases.
12:00 pm Incorporating NGS Assays in a Routine Molecular Oncology Laboratory
Helen Fernandes, Ph.D., Pathology & Laboratory Medicine, Weill Cornell Medical College
This presentation will address the practical processes that need to be adopted for a NGS based assay to be run in a routine clinical laboratory. Validation and implementation of NGS assays for analysis of cancer-related variants will be discussed. The presentation will focus on the pros and cons of incorporating NGS assays in molecular diagnostics laboratories.
12:30 Biomarker Discovery Through Pathway Analysis - Bringing Together Multiple Data Types for a Better Picture
Melinda Baker, Ph.D., Solution Scientist, IP & Science, Life Science, Thomson Reuters
‘Next Gen Sequencing’ (NGS) technologies produce massive amounts of data which can contain valuable information, connecting genetic variation with clinical phenotypes, and yet represent just one possible layer of biological perturbations. Here we will discuss newly released genomic analysis tools available within MetaCore™ that facilitate functional annotation of human variants and leverage pathway analysis to integrate NGS data with multiple other OMICs data types for biomarker discovery and validation.
1:00 Luncheon Presentation: Introduction to the Response Genetics Tissue of Origin Test
Debbie Corazzelli, Director, Product Marketing, Response Genetics
Response Genetics, a company focused on molecular diagnostic tests that help determine a patient's response to cancer therapy, recently introduced the FDA-cleared Response DX: Tissue of Origin Test. Looking at 2000 genes, it compares the tumor’s gene expression patterns to those of 15 known tissues, with 89% sensitivity. It is the most accurate, most published, and best validated test of its kind. The objective test results can help guide physicians in managing cancer patients.
2:00 Session Break
2:15 Chairperson’s Remarks
Seth D. Crosby, M.D., Washington University School of Medicine
2:20 Clinical NGS of Hematological Malignancies
Jennifer Morrissette, Ph.D., Scientific Director, Clinical Cytogenetics Laboratory; Clinical Director, Center for Personalized Diagnostics (CPD), University of Pennsylvania Perelman School of Medicine
The use of multi-gene testing in hematologic malignancies using NGS reliably detects somatic mutations and provides insights into prognosis and therapeutic choice. We will describe our approach to AML mutation detection, including capture of difficult to sequence regions (e.g. CEBPA and large FLT3-ITDs), and mutation profiles with respect to conventional cytogenetic findings. Finally, the utility of in clinical prognostication and treatment decisions will be discussed.
2:50 Clinical Sequencing in the Pediatric Oncology Clinic: Challenges and Opportunities
Donald “Will” Parsons, M.D., Ph.D., Assistant Professor, Pediatrics, Molecular & Human Genetics, Baylor College of Medicine, Texas Children’s Cancer Center
Current experience with the clinical application of genomic sequencing for childhood cancer patients is limited. This talk will report results of the ongoing BASIC3 study, which aims to determine the clinical impact of incorporating tumor and constitutional whole exome sequencing into the care of children with newly diagnosed solid tumors at Texas Children’s Cancer Center, with a particular focus on the diagnostic yield and limitations of WES in this setting.
3:20 FEATURED POSTER PRESENTATION: CircSarc - Disease Monitoring by Liquid Biopsies in Sarcomas
Heidi Maria Namlos, Ph.D., Norwegian Radium Hospital, Oslo University Hospital
The CircSarc study aims to evaluate the clinical impact of circulating tumour DNA (ctDNA) in sarcomas. At present, mutational profile of solid tumours is obtained from tissue biopsies or surgical specimens. However, it is not always possible to perform and obtain biopsies due to the invasive nature of the procedure, thus less invasive methods are highly needed. Recent advances in technology allows now to use blood plasma as a “liquid biopsy”, examining the naked circulating tumour DNA shed by the tumour cells into peripheral blood. ctDNA in blood plasma carries tumour-specific alterations seen in the primary tumour, and may better represent the genetic heterogeneity of the tumour than small tissue biopsies.
3:50 Refreshment Break in the Exhibit Hall with Poster Viewing
4:30 cfDNA Rare Alleles – How Low Can We Go?
Seth D. Crosby, M.D., Director, Alliances and Partnerships, Genetics, Washington University School of Medicine
This talk will review successful efforts at Washington University to employ novel reagents and informatics to the problem of rare allele detection.
5:00 Circulating microRNAs as Liquid Biopsies in Diagnostics and Therapy
Anton Wellstein, M.D., Ph.D., Professor, Oncology, Pharmacology and Medicine, Georgetown University Medical School; Associate Director, Basic Science, Lombardi Comprehensive Cancer Center
Altered patterns of microRNAs detected in the circulation may indicate the presence of cancer as well as the impact of treatment. It is conceivable that distinct changes of circulating microRNA patterns will indicate different therapeutic interventions that impact different pathways.
5:30 Wine and Cheese Pairing Welcome Reception in the Exhibit Hall with Poster Viewing
6:30 Close of Day
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