Program

Short Courses in Informatics

Practical Informatics: Interpretation  

Somatic Variant Interpretation and Reporting - The Informatics Underpinning in the Light of Recent AMP Guidelines  
Somak Roy, MD, Molecular and Genomic Pathology Laboratory UPMC, Pittsburgh, PA, USA

Complexities in the Analysis and Interpretation of NGS Data for Inherited Disorders
Avni B. Santani, PhD, The Children's Hospital of Philadelphia, Philadelphia, PA, USA

Practical Informatics: Pipeline  

Methods for Calling and Prioritzation of Somatic Variants from Panel, Exome and Genome Sequencing   
Dieter Beule, PhD, Berlin Institute of Health, Berlin, Germany

Validation of NGS Bioinformatics Pipelines: The AMP Working Group Guideline
Alexis B. Carter, MD, FCAP, FASCP, Children’s Healthcare of Atlanta, Atlanta, GA, USA

Practical Informatics: Mining Databases    

Linking Whole-Exome Cancer Sequencing Analysis with Therapeutics and Other Datasources
Aik Choon Tan, PhD, University of Colorado Anschutz Medical Campus, Aurora, CO, USA

What Have Public Databases Taught Us about Clinical Variant Classification
Stephen E. Lincoln, Invitae, San Francisco, CA, USA

General Session: Mining Clinical Information from Big Data

Molecular Pathology Informatics – Infrastructures and Toolsets for Distributed and Scalable Cancer Genomics in Clinical Practice   
Mark J. Routbort, MD, PhD, MD Anderson Cancer Center, Houston, TX, USA

ClinGen Allele Registry, Pathogenicity Calculator, and the Emerging Computational Knowledge Resources for Clinical Genomics
Aleksandar Milosavljevic, PhD, Baylor College of Medicine, Houston, TX, USA

General Session: Cancer Diagnostics: Therapeutic Resistance and Minimal Residual Disease

Cancer Evolution as a Therapeutic Target
Mariangela Russo, PhD, University of Torino, Torino, Italy

Molecular Diagnostics in Myeloid Malignancies in the Era of NGS - Changing Paradigms
Christian Thiede, MD, University Hospital Carl Gustav Carus, Dresden, Germany

Breakout Sessions

Profiling ctDNA, CTC and Cell Free DNA

Circulating Tumor DNA in the Real World: Challenges and Opportunities    
Christina Lockwood, PhD, DABCC, DABMGG, University of Washington, Seattle, WA, USA

The Clinical Applications and Validation of Cell-free DNA-based Digital PCR Assays
Maria E. Arcila, MD, Memorial Sloan Kattering Cancer Center, New York, NY, USA

Advanced Diagnostics for Hematopoietic Neoplasms

Next Generation Sequencing and Leukemia Diagnosis
Manja Meggendorfer, MD, MBA, MML Munich Leukemia Laboratory, Munich, Germany

Impact of NGS Data on Lymphoma Classification, Diagnosis and Treatment
Ioannis Anagnostopoulos, MD, PhD, Charité Universitätsmedizin Berlin, Germany

Economic Considerations in Genomic Testing & Panel Design 

Choose Wisely: Comprehensive vs Targeted Genetic Tumor Profiling
Albrecht Stenzinger, MD, University Hospital Heidelberg, Heidelberg, Germany

Syndromic Infectious Disease Testing: Advantages, Challenges and Opportunities   
Melissa B. Miller, PhD, D(ABMM), UNC School of Medicine, Chapel Hill, NC, USA

General Session: Small & Degraded Samples

Circulating Tumor Cells, Cell Free DNA, Liquid Biopsies    
Klaus Pantel, MD, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany

Targeted Sequencing in Small Tissue Biopsy Specimens
Mike Hubank, PhD, The Centre for Molecular Pathology, Royal Marsden Hospital, Surrey, United Kingdom

Breakout Session on Tissue Specimens

Clonal Evolution and Heterogeneity in Solid Tumors   

Molecular Prostate Cancer Heterogeneity
Peter J. Wild, MD, University Hospital Zurich, Zurich, Switzerland

Intratumoral Heterogeneity: Inferring How Human Tumors Grow
Darryl K. Shibata, MD, Keck School of Medicine of University of Southern California, Los Angeles, CA, USA

New Aspects in Immunotherapy & Epigenetics    

Immunotherapy From the Pathologist’s Perspective (PD-L1)   
Janis M. Taube, MD, MSc, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Open Access PERSONAL Genomics and Epigenomics
Stephan Beck, PhD, FMedSci, University College London, London, United Kingdom

Tissue Specimens: Viral Carcinogenesis

HPV-Induced Carcinogenesis and Viral Integration
Magnus von Knebel Doeberitz, MD, Heidelberg University Hospital, Heidelberg, Germany

Viral Carcinogenesis in Polyomavirus-Induced Carcinogenesis and Viral Integration
Axel zur Hausen, MD, PhD, Maastricht UMC+, Maastricht, Netherlands

General Session: New Applications in Clinical Microbiology and Oncology

The Triumph of MALDI-TOF Mass Spectrometry and New Developments in Tandem Mass Spectrometry for Clinical Microbiology   
Haroun N. Shah, PhD, Middlesex University, London, United Kingdom

Chemical Proteomics Reveals the Target Landscape of Clinical Kinase Inhibitors
Bernhard Küster, PhD, Technical University of Munich, Munich, Germany

Short Courses

Updates in Molecular Tumor Pathology   

Updates on the Guidelines for Lung Cancer Testing
Neal I. Lindeman, MD, Brigham & Women's Hospital, Boston, MA, USA

Classification of Brain Tumors by Methylation Analysis   
Andreas von Deimling, MD, University Heidelberg and German Cancer Research Center (DKFZ), Heidelberg, Germany

HER2 in Gastric Cancer    
Josef Rüschoff, MD, Institute of Pathology Nordhessen, Targos Molecular Pathology GmbH, Kassel, Germany

Interface between Infectious Agents and the Human Genome

The Human Gastrointestinal Microbiome and Advances in Metagenomic Medicine
James Versalovic, MD, PhD,  Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA

Update on the Use of Human Gene Expression for the Diagnosis of Infectious Diseases
Gregory A. Storch, MD, Washington University School of Medicine, St. Louis, MO, USA

Liquid Specimens: Prenatal and Urine

NIPT Beyond Aneuploidy Screening
Rossa W.K. Chiu, MBBS, PhD, Chinese University of Hong Kong, Hong Kong

Molecular Testing of Urine for Detection of Cancer
Per Guldberg, PhD, Danish Cancer Society Research Center, Copenhagen, Denmark

General Session: Quality Assurance in Molecular Diagnostics

Quality Assurance in Pathology: The QuiP Experience
Manfred Dietel, University Hospital Charité, Berlin, Germany
    

Good or Bad Sequencing Data?  Setting a Benchmark for the Quality of NGS in the Diagnostic Lab
Simon Patton, PhD, European Molecular Genetics Quality Network (EMQN), Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom