Virtual Program

Plasma DNA Based Molecular Diagnostics - From Dream to Reality

The Use of Molecular Tests in the Discovery and Characterization of Emerging Fungal Pathogens

Ilan Schwartz, MD, PhD, University of Alberta, Alberta, Canada

Molecular Methods for Discovery of Novel Pathogens

Lea Starita, PhD, University of Washington Department of Genome Sciences, Seattle, WA, USA

GRCh38/hg38 and Transitioning to hg38

Justin Zook, PhD, National Inst of Standards & Tech, Gaithersburg, MD, USA

Look before you leap: How to systematically move clinical diagnostic testing from hg19 to hg38

Sabah Kadri, PhD, Lurie Children's Hospital of Chicago, Chicago, IL, USA

Integrative Analysis of the Tumor Microenvironment

Thomas Gajewski, MD, PhD, The University of Chicago, Chicago, IL, USA

Immune Cell Characterization via Multiplexed Digital Imaging

Scott Rodig, MD, PhD, Brigham and Women's Hospital, Boston, MA, USA

Molecular Therapies for Cystic Fibrosis

Garry Cutting, MD, Johns Hopkins University, Baltimore, MD, USA

Molecular characterization of Aspergillus fumigatus by next-generation sequencing in neonates diagnosed with invasive fungal dermatitis at a tertiary care hospital – Florida, 2019

Eun a Kim, MSc, IDbyDNA, Draper, UT, USA

SARS-CoV-2 and Cytomegalovirus Co-infection in Patients Over 45: A Case Series

Debbie Walley, MD, Houston Methodist Hospital, Houston, TX, USA

Disseminated Histoplasmosis with Concomitant Mycobacterium haemophilum and Anncaliia algerae Myositis in a Polymyositis Patient: A Diagnostic Approach

William Webster, DO, University of South Carolina School of Medicine-Prisma Health, Columbia, SC, USA

Papillary Thyroid Carcinoma with Hashimoto Thyroiditis: Detecting the Driver Signal in the Inflammatory Noise

Adam Fisch, MD, PhD, Massachusetts General Hospital, Boston, MA, USA

Next Generation Sequencing Catches a Cytopathology Pitfall

Matthew Gayhart, MD, Cedars-Sinai Medical Center, Los Angeles, CA, USA

Triumphs and Challenges Surrounding Implementation of Point-of-care Molecular Assays Outside of the Microbiology Laboratory

Omai Garner, PhD, UCLA, Los Angeles, CA, USA

Implementation of Molecular Infectious Diagnostic Tests at the Point-of- Care

Raquel M. Martinez, MBA, PhD, Geisinger, Danville, PA, USA

Digital Transformation: What Does It Mean for Compliance?

Justin Hammerling, MBA, Kapios Health, Toledo, OH, USA

Josh Deignan, PhD, University of California, Los Angeles, CA, USA

Recurrent Mediastinal Neoplasm of Unknown Origin

Jessica Ziemba, MD, Beth Israel Deaconess Medical Center, West Roxbury, MA, USA

Fortuitous Detection of a NUP214-ABL1 Fusion Through Copy Number Changes

Jonathan Tsai, MD, PhD, Brigham & Women's Hospital, Brookline, MA, USA

Targeted RNA sequencing reveals a cryptic t(9;11) leading to KMT2A-MLLT3 fusion in accelerated phase primary myelofibrosis evolving into acute myeloid leukemia

Audrey Jajosky, MD, PhD, University of Michigan, Cleveland, OH, USA

Undifferentiated Neuroblastoma with Unique Molecular Features

Sara Akhavanfard, MD, PhD, Nationwide Children's Hospital, Beachwood, OH, USA

A Compound EGFR Exon 21 Mutation in a Metastatic Liver Mass

Eric Goold, MD, ARUP/University of Utah, Salt Lake City, UT, USA

Maria Figueroa, MD, Sylvester Comprehensive Cancer Center, University of Miami Health System, Miami, FL, USA

Clonal Heterogeneity and Evolution of Myeloid Neoplasia with Single-Cell Genomics

Koichi Takahashi, MD, PhD, UT MD Anderson Cancer Center, Houston, TX, USA 

G02 - Copy number variant analysis improves the diagnostic yield in a cohort of pediatric patients with previously negative constitutional exome sequencing results

Elan Hahn, MD, University of Toronto, Toronto, Ontario, Canada

G11 - Mosaicism in cancer susceptibility genes in unselected cancer patients

Diana Mandelker, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

G13 - Comparison of Universal Versus Traditional Genetic Testing Models for Cancer Patients

Ozge Ceyhan-Birsoy, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

G23 - High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening

Dale Muzzey, PhD, Myriad Women's Health, San Francisco, CA, USA

H14 - CloneRetriever: An automated algorithm to identify clonal immunoglobulin gene rearrangements by Next-Generation Sequencing

Eitan Halper-Stromberg, MD, PhD, Johns Hopkins University, Baltimore, MD, USA

H21 - Validation of MYD88 L265P ddPCR Assay and Application in Assessment of Primary CNS Lymphoproliferative Disorders

Miguel Cantu, MD, New York Presbyterian-Weill Cornell, New York, NY, USA

H28 - Chromosome Arm Gain or Loss by Next Generation Sequencing

Mia Donna Dabrowski,  MT(ASCP), AdventHealth Orlando, Orlando, FL, USA

H44- Comparison of Whole Genome Sequencing (WGS) with Conventional Cytogenetics in Profiling Genome-Wide Large-Scale Copy Number and Structural Variations in Pediatric and Adolescent AML

Lu Wang, MD, PhD, St. Jude Children's Research Hospital, Memphis, TN, USA

ID07 - Evaluation of an automated rRNA quantitation system for rapid AST in clinical lab diagnostics

Michael Tomasek, GeneFluidics, Huntington Beach, CA, USA

ID27 - Evaluating the Clinical Utility of Next-Generation Sequencing of Nasopharyngeal Specimens for SARS-CoV-2 in the COVID-19 Pandemic

Priya Velu, MD, PhD, New York Presbyterian-Weill Cornell Medicine, New York, NY, USA

ID52 - Design and Optimization of Novel ITS2-28s rRNA Gene Primers for Fungal Species Detection from Formalin-Fixed Paraffin-Embedded Tissues with a Targeted Next-Generation Sequencing Assay

Rossio Kersey, PhD, The Joint Pathology Center, Bethesda, MD, USA

ID53 - Non-invasive Microbial Cell-free DNA Sequencing Detects Invasive Mold Infections in Immunocompromised Patients with Pneumonia

TIm Blauwkamp, PhD, Karius Dx, Redwood City, CA, USA

Panel Discussion

Daniel Diekema, MD, University of Iowa, Iowa City, IA, USA

Neil Anderson, MD, Washington University in St. Louis, St. Louis, MO, USA

Amanda Harrington, PhD, D(ABMM), Loyola University Medical Center, Maywood, IL, USA

D. Jane Hata, PhD, Mayo Clinic Florida, Jacksonville, FL, USA

Cell Atlases as Roadmaps to Understand and Treat Disease

Orit Rozenblatt-Rosen, PhD, Broad Institute, Cambridge, MA, USA

Moving Towards Clinical-grade HGVS Nomenclature

Birgit Funke, PhD, FACMG, Sema4, Newton, MA, USA

HGVS: Principles, Resources, and Community Engagement

Reece Hart, PhD, Launch CTO, San Francisco, CA, USA

Defining the Variability in HGVS Nomenclature Usage: CAP Proficiency Testing, Annotation Software, and Community Responses

Somak Roy, MD, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA

Ryan Schmidt, MD, PhD, Children's Hospital Los Angeles, Los Angeles, CA, USA 

Persistent high levels of donor cells following solid organ transplant confirm diagnosis of graft versus host disease

Kelly Rafferty, PhD, MS, Virginia Commonwealth University Health System, Richmond, VA, USA

Co-Occurrence of Mosaic Turner Syndrome and Mosaic Spinal Muscular Atrophy Carrier Status in an Adult Female

Diana Toledo, PhD, MS, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

A rare occurrence of three Compound heterogeneous mutations of HBB gene leading to B- Thalassemia major in a Pakistani Family

Sjjawal Ahmad, Msc, Aga Khan University Hospital, Karachi, Pakistan

When old meets new: Sophisticated interplay of multiple technologies to diagnose a case of SOPH Syndrome

Marilena Melas, MSc, PhD, Nationwide Children's Hospital, Columbus, OH, USA

Identification of targetable NUP214-ABL1 fusion in T-lymphoblastic leukemia

Won Sok Lee, MD, MPH, Virginia Commonwealth University, Richmond, VA, USA

Targeted Molecular Profiling using NGS Based Assays: A Clinical Journey

Ryma Benayed, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

Amplicon NGS Sequencing – Considerations and Applications

Eric Konnick, MD, MS, University of Washington Department of Laboratory Medicine and Pathology, Seattle, WA, USA

RNA-Based NGS: Technical Considerations for Assay Validation

Kurtis Davies, PhD, University of Colorado Anschutz Medical Campus, Aurora, CO, USA

Nuts and Bolts: Details about NGS that You Need to Know

Dara Aisner, MD, PhD, University of Colorado Hospital, Aurora, CO, USA

Bioinformatics Pipeline Development for NGS Oncology Laboratory Developed Tests

Jeremy Segal, MD, PhD, University of Chicago, Chicago, IL, USA

Panel Discussion

Laura Tafe, MD, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

Somak Roy, MD, Cincinnati Children's Hospital Medical Center, Mason, OH, USA

Mark Routbort, MD, PhD, M. D. Anderson Cancer Center, Houston, TX, USA

High-throughput Functional and Genomic Approaches

Jay Shendure, MD, PhD, University of Washington, Seattle, WA, USA
Collin  Tokheim, PhD, Dana-Farber Cancer Institute, Boston, MA, USA

Panel Discussion

Teresa Karre, MD, Nebraska Methodist Hospital and Children's Hospital and Medical Center, Omaha, NE, USA

Anthony Tran, DrPH, MPH, D(ABMM), District of Columbia Department of Forensic Sciences, Bethesda, MD, USA

Beth Marlowe, PhD, D(ABMM), Quest Diagnsotics, San Juan Capistrano, CA, USA

Michael Bachman, MD, PhD, University of Michigan/Michigan Medicine, Ann Arbor, MI, USA

Panel Discussion

Moderator: Erika Miller, JD, Cavarocchi - Ruscio - Dennis Associates, LLC, Washington, DC, USA

Samuel K. Caughron, MD, MAWD Pathology Group, P.A., Lenexa, KS, USA

Pranil Chandra, DO, FCAP, FASCP, PathGroup, LLC, Nashville, TN, USA

Jay Patel, MD, MBA, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA

Carlos del Rio, MD, Emory School of Medicine, Atlanta, GA, USA

Panel Discussion

Gail Javitt, MD, PhD, Hyman, Phelps & McNamara, P.C., Washington, DC, USA

Matthew Lebo, PhD, Lab for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA

Rakesh Nagarajan, MD, PhD, PierianDx, Creve Coeur, MO, USA

Steve Miller, MD, PhD, University of California, San Francisco, CA, USA

William Muller, MD, PhD, Lurie Children's Hospital of Chicago; Northwestern University Feinberg School of Medicine, Chicago, IL, USA

Stephanie Mitchell, PhD, D(ABMM), University of Pittsburgh, Pittsburgh, PA, USA

Debra Palazzi, MD, MEd, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA

Clonal Hematopoiesis Detected from cfDNA Testing

Pedram Razavi, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

cfDNA to Detect and Characterize Cancer at Early Stages

Victor Velculescu, MD, PhD, John Hopkin's Medicine, Baltimore, MD, USA

Precision Oncology through a Molecular Tumor Board: Hype or Reality?

Marios Giannakis, MD, PhD, Dana-Farber Cancer Institute, Boston, MA, USA

Cancer Clinical Decision Making Tools in the Era of Precision Medicine & Big Data

Mia Levy, MD, PhD, Rush University Medical Center, Chicago, IL, USA

Machine Learning in Genomic Medicine

Stephen Kingsmore, MD, DSc, FRCPath, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA

I08 - Microhaplotype Locus-Based Workflow for Sample Contamination Detection in Multiplexed Next Generation Sequencing (NGS) Assays

Jagadheshwar Balan, Mayo Clinic, Rochester, MN, USA

I14 - ReGe: A Toolkit for Moving Clinical Panels to hg38

Andrew Skol, PhD, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

I23 - Many NGS-based Assays, One Platform: Ensuring a High-quality Case Review and Sign-out Process with NGS Reporter (NGSR)

Andrea Sboner, PhD, Weill Cornell Medicine, New York, NY, USA

I28 - Building a comprehensive teaching repository of whole slide images

Egiebade Iriabho, MSc, The University of Alabama at Birmingham, Birmingham, AL, USA

ST48 - Tumor microbiome in colorectal carcinoma: bacterial enrichment is associated with oncogenic variants within specific signaling pathways

Cameron Beech, MD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

ST50 - Comprehensive Genomic Profiling of Different Subsets of Merkel Cell Carcinoma: Insights on Pathogenetic Pathways

Ryan DeCoste, MD, Nova Scotia Health Authority, Halifax, Nova Scotia, Canada

ST58 - Genomic Profiling Uncovers Mutation Signatures That Differentiate Pediatric Rhabdomyosarcoma (RMS) Subgroups and Predict Clinical Outcomes

Fumin Lin, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA

ST80 - Prospective study using virtual enrollment to assess an RNA-FIT assay for non-invasive detection of colorectal cancer, advanced adenomas, and other precancerous adenomas

Erica Barnell, PhD, Geneoscopy Inc., St. Louis, MO, USA

TT04 - Performance Validation of Magnis BR: a full-automatic capture-based library preparation platform for next-generation sequencing (NGS)

Xiaotian Wang, PhD, Burning Rock Dx, Shanghai, China

TT06 - Concordance of Variant Detection Between the MoCha ctDNA Assay and Matched Tissue Biopsy in Non-Small Cell Lung Cancer

Chris Karlovich, PhD, Frederick National Laboratory for Cancer Research, Frederick, MD, USA

TT10 - Comparative Study of Three Assays: Target Capture Sequencing, MassARRAY and Real-Time qPCR for Testing Somatic Mutations in Plasma Cell-Free Circulation Tumour DNA of Non-Small Cell Lung Cancer

Lei Zhang, University of Alberta, Edmonton, Alberta, Canada

TT34 - Optical mapping enables high-throughput analysis of pathogenic repeats

Ernest Lam, Bionano Genomics, San Diego, CA, USA

True or False: Interpretation Challenges of Blood Culture Identification Panels 

Susan Butler-Wu, PhD, LA County and USC Medical Center, Los Angeles, CA, USA

Pitfalls in Interpretation of Blood Culture Molecular ID Panels

Richard Davis, PhD, D(ABMM), MLS(ASCP)CM, Providence Sacred Heart Medical Center, Spokane, WA, USA

Addressing the Clinical Laboratory Workforce Shortage

Susanne Norris-Zanto

Addressing the Clinical Laboratory Workforce Shortage - Automation and Robotics

Jose Manuel Collados, ABB, Houston, TX, USA

Panel Discussion

Dara Aisner, MD, PhD, University of Colorado Hospital, Aurora, CO, USA

Ryma Benayed, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

Kurt Davies, PhD, University of Colorado Anschutz Medical Campus, Aurora, CO, USA

Eric Konnick, MD, MS, University of Washington Department of Laboratory Medicine and Pathology, Seattle, WA, USA

Jeremy Segal, MD, PhD, University of Chicago, Chicago, IL, USA

Optimal Assay Design for Small Specimens

Christopher Gilbert, DO, MS, Swedish Cancer Institute, Seattle, WA, USA

Best Practices for Tissue Allocation

Sinchita Roy Chowdhuri, MD, PhD, The University of Texas MD Anderson, Houston, TX, USA

Birgit Funke, PhD, FACMG, Sema4, Newton, MA, USA

Annette Leon, PhD, MS, Color, Burlingame, CA, USA

How Do I Manage a Patient with CH?

Kelly Bolton, MD, PhD, Memorial Sloan Kettering Cancer Center, New York NY, USA

How Can I Use Mutation Data to Diagnose MDS in a Patient with Cytopenia and No Morphologic Dysplasia?

Amy Dezern, MD, MHS, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

The Current State of the Field in Pediatric Cancer Genomics and Rare Disorders

Sharon Plon, MD, PhD, Baylor College of Medicine, Houston, TX, USA

Utility of WGS in Molecular Analysis Pediatric Cancers Discussing the Pro’s and Con’s Within the Question of Clinical Utility

Jinghui Zhang, PhD, St. Jude Children's Research Hospital, Memphis, TN, USA

Application of New Methods of Structural Variant Detection in the Clinical Laboratory

Madhuri Hegde, PerkinElmer Genomics, Duluth, GA, USA

Mate Pair Sequencing as a Tool to Increase Diagnostic Yield for Constitutional Genetic Disorders

Nicole Hoppman, PhD, Mayo Clinic, Rochester, MN, USA

Simple and Complex Variants Detected by Short and Long Read Sequencing

Stephen Lincoln, Invitae, Potomac, MD, USA

Panel Discussion

Moderator: Charles Mathews, MPP, ClearView Healthcare Partners, Newton, MA, USA 

Andrea Ferreira-Gonzalez, PhD, VCU Heath, Richmond, VA, USA

Elaine Lyon, PhD, HudsonAlpha Insitutute for Biotechnology, Huntsville, AL, USA

Tina Lockwood, PhD, DABCC, DABMGG, University of Washington Department of Lab Medicine, Seattle, WA, USA

John L. Schmitz, PhD, D(ABHI, ABMLI), F(AAM), UNC School of Medicine, Chapel Hill, NC, USA

Transitioning from Conventional Typing to Whole Genome Sequencing (WGS) for Public Health Epidemiology

William Glover, PhD, State Laboratory of Public Health, Raleigh, NC, USA

Strain Typing in Clinical and Public Health Laboratories: Migration to Whole Genome Sequencing for Epidemiology Purposes

Sanchita Das, MD, D(ABMM), NIH, Bethesda, MD, USA

William Hahn, MD, PhD, Dana-Farber Cancer Institute, Boston, MA, USA

Molecular Updates in Classification of B-cell Lymphomas

Sandeep Dave, MD, Duke University, Durham, NC, USA

Molecular Updates in Classification of T-cell Lymphomas

Javeed Iqbal, MS, PhD, University of Nebraska Medical Center, Omaha, NE, USA

Detection of Resistance-associated Mutations in Cytomegalovirus Through the Use of Next-generation Sequencing

Matthew Binnicker, PhD, Mayo Clinic, Rochester, MN, USA

Clinical Whole-genome Sequencing and Drug Resistance Reporting for Mycobacterium tuberculosis in New York: a 5 year summary

Kimberlee Musser, PhD, Wadsworth Center, Loudonville, NY, USA

Experience from Proactive Whole Genome Sequencing in 400 Newborn Children

Steven Bleyl, MD, PhD, Genome Medical Services, San Francisco, CA, USA

Genetic Testing as an Employee Benefit

Scott Topper, PhD, Color, Burlingame, CA, USA

Translational Research Approaches to Large-scale Population Genomics

James Lu, PhD, Helix, San Mateo, CA, USA

In-silico Modeling of Tumor Evolution

Noam Auslander, PhD, National institute of Biotechnology Information, NIH, Bethesda, MD, USA

Molecular Archeology of Cancer

Peter Van Loo, PhD, The Francis Crick Institute, London, England, United Kingdom

Ahmet Zehir, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

Modern Application Deployment Strategies for NGS testing and Integration with Molecular Pathology Data

Cihan Kaya, PhD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA