Educating for Best Practices in Clinical Cancer Genetics
13th Annual Meeting of the Cancer Genomics Consortium (CGC)
July 31 – August 3, 2022 in St. Louis, MO
Welcome!
In order to watch the live event, click ▶ on the video player below.
Meeting Agenda
Times, Presenters, Details
All times for the CGC 2022 Scientific Program are in the US Central Time Zone.
Sunday, July 31
1:00 PM – 1:05 PM
Welcome from the 2022 Program Chair
Obi Griffith, Washington University School of Medicine (2022 Program Chair, CGC President-elect)
1:05 PM – 1:15 PM
Presidential Address
Patricia M. Miron, UMass Memorial Medical Center and Quest Diagnostics (CGC President)
1:15 PM – 2:15 PM
Moderator: Jane Houldsworth, Icahn School of Medicine at Mount Sinai, and Panieh Terraf, Memorial Sloan Kettering Cancer Center
Microdeletion 13q12.2 in B Cell Acute Lymphoblastic Leukemia: Little but Important! (Abstract 1)
Daynna Wolff, Medical University of South Carolina
Clinical, Cytogenetic and Genomic Profiling of B-Other Acute Lymphoblastic Leukemia: An Indian Cohort study (Abstract 2)
Dhanlaxmi Shetty, ACTREC, Tata Memorial Centre
Homologous Recombination DNA Repair Deficiency in Hematological Malignancies (Abstract 3)
Ha Nguyen, MD Anderson Cancer Center-School of Health Professions
Integrated Genetic Risk Assessment in De-novo Acute Myeloid Leukemia in Children and Young Adults (Abstract 4)
Betsy Hirsch, University of Minnesota Medical School
Session 1 Q&A
Gold Vendor Showcase: BioCartis
Bringing Rapid Molecular Testing In-House: Our Experience with Idylla (TM)
Thuy Phung, University of South Alabama
2:20 PM – 2:45PM
Platinum Vendor Showcase: SOPHiA Genetics
Overcoming Challenges of Somatic RNA Variant Calling in Solid Tumors
Mikhail Pertziger, Miling Wang, SOPHiA GENETICS
2:45 PM – 3:45 PM
Session 2: Different Approaches to Unraveling the Genomics of Solid Tumors
Moderators: Teresa Smolarek, Cincinnati Children’s Hospital Medical Center and Marilena Melas, New York Genome CenterIDH1 R132H, IDH2 R172K and BRAF V600E Mutation Detection by OncoScan CNV Plus in Brain Tumors (Abstract 5)
Lauren Choate, Mayo Clinic
Technologist Award
The Clinical Implications of Polyploidy in Oligodendrogliomas (Abstract 6)
Ruby (Ching-Hua) Liu, Northwestern Medicine
Overview of Recurrent and Novel Gene Fusions Detected in a Clinical Diagnostic Laboratory (Abstract 7)
Paulo Campregher, Hospital Israelita Albert Einstein
Harnessing the Power of Microarray in the Analysis of Rarer Pediatric Sarcomas (Abstract 8)
Maxine Sutcliffe, Johns Hopkins All Children’s Hospital, University of South Florida
Session 2 Q & A
Gold Vendor Showcase: GT Molecular
Multiplex digital PCR Panels for Ultrasensitive and Specific Detection of Actionable KRAS and EGFR Mutations in Liquid Biopsies
Stephanie Barbari, GT Molecular
3:50 PM – 4:30 PM
Attendee Break
4:30 PM – 5:15PM
Diamond Vendor Showcase: Illumina
Clinical Validation of Whole Genome Methylation Profiling Classifier for Central Nervous System Tumor
Lucas Santana dos Santos, Northwestern University
Gold Vendor Showcase: QIAGEN
Faster, Simpler, More Efficient: The Latest Improvements in Complete NGS Workflows for Targeted DNA Sequencing
Krishna Amin, QIAGEN
5:20 PM – 5:50 PM
Session 3: Advances in Immunogenomics and Immune Therapies in the Treatment of Cancer
Moderator: Patrick Gonzales, University of Kansas Medical Center
The Dual PI3K Inhibitor Duvelisib Potently Inhibits Cytokine Release Syndrome while Maintaining CAR-T Function (Abstract 9)
Parmeshwar Amatya, Washington University School of Medicine
Trainee Award
HLA Class II Immunogenic Mutation Burden Predicts Response to Immune Checkpoint Blockade (Abstract 10)
Xiaoshan Shao, Johns Hopkins University
Session 3 Q&A
5:50 PM – 6:20 PM
Moderator: Gordana Raca, Children‘s Hospital Los Angeles
Federated Analysis for Germline Variant Interpretation
Melissa Cline, University of California, Santa Cruz
Gold Vendor Showcase: Imagia Canexia Health
David Huntsman, Imagia Canexia Health
6:25 PM – 7:00 PM
Session 4: Lightning Talks – Data Systems for Cancer Genome Interpretation
Moderator:Trevor Pugh, University of TorontoThe Complex Nature of Variant Interactions in Cancer Requires Updates to Variant Interpretation Resources (Abstract 11)
Kilannin Krysiak, Washington University School of Medicine
Expanding Clinical Actionability in Individual Patient Profiles with the Molecular Oncology Almanac (Abstract 12)
Brendan Reardon, Dana-Farber Cancer Institute
Implementation of New ClinGen/CGC/VICC Recommendations for Classification of Oncogenicity of Somatic Variants Using AI (Abstract 13)
Yaron Einhorn, Genoox
Providing More Answers for Patients with Supplemental RNA Analysis (Abstract 14)
Laure Fresard, Invitae
ClinGen Somatic Cancer Expert Curation Panel for FGFR Genes in Genitourinary Cancer (Abstract 15)
Ian King, University Health Network and University of Toronto
Sunday Afternoon Evaluation Form
7:00 PM – 9:00 PM
Sunday, Main Event
Opening Reception and Poster ViewingOn-Site Location: Exhibit Hall (Majestic A-D)
Monday, August 1
8:00 AM – 9:00 AM
Moderator: Rebecca Smith, Genetics Associates, Inc.
International Working Group Recommendations for the Implementation of Optical Genome Mapping in Hematologic Malignancies (Abstract 16)
Adam Smith, University Health Network
Deconvolution of Genetic Heterogeneity in Glioblastoma Using Multi-Region Sampling (Abstract 17)
Aaron Gillmor, University of Calgary
Cell-Free DNA 5-hydroxymethylcytosine is an Emerging Marker of Acute Myeloid Leukemia (Abstract 18)
Zejuan Li, Houston Methodist
Personalized ctDNA Micro-Panels Monitor and Predict Clinical Outcomes for Patients with Triple-Negative Breast Cancer (Abstract 19)
Erica K. Barnell, Washington University School of Medicine
Session 5 Q&A
9:00 AM – 10:00 AM
Introduction: Patrick Gonzales, University of Kansas Medical Center
Advances In Diagnosis and Treatment of Neurofibromatosis 1
Bruce Korf, University of Alabama
Gold Vendor Showcase: MRC Holland
SALSA (R) digitalMLPA: Where MLPA meets NGS
Suvi Savola, MRC Holland
10:05 AM – 10:30AM
Platinum Vendor Showcase: Oxford Gene Technology
Beyond CNVs: Leveraging SNP Arrays in Cancer
Stephen Moore, Oregon Health and Science University
Gold Vendor Showcase: Geneoscopy
Geneoscopy: Applications of seRNA to Non-invasively Assess GI Disease
Erica K. Barnell, Geneoscopy
10:35 AM – 11:15 AM
Attendee Break
11:15 AM – 12:00PM
Moderators: Yang Cao, Washington University School of Medicine and
Ying-Chen (Claire) Hou, Washington University School of Medicine
A Unified Framework for Gene Fusion Representation (Abstract 20)
Alex Wagner, Nationwide Children’s Hospital and The Ohio State University
Technologist Award
Translating Human Readable Variation Descriptions to Unique Computable Variations with the Variation Normalizer (Abstract 21)
Kori Kuzma, Nationwide Children’s Hospital
Reimagining and Enhancing the Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group (Abstract 22)
Jason Saliba, Washington University School of Medicine
Session 6 Q&A
Gold Vendor Showcase: Global Alliance for Genomics and Health
GA4GH Cancer Community
Peter Goodhand, GA4GH
(No CME or CEUs available)
12:05 PM – 12:50PM
Diamond Vendor Showcase: Agilent
High-Resolution Target-Capture DNA Analysis for Suspect Clonal Hematopoiesis
Terra Lasho, Mayo Clinic(No CME or CEUs available)
12:50 PM – 1:45 PM
Lunch with Exhibitors
Exhibit Hall
1:45 PM – 2:15 PM
Clinical Laboratory Staff Shortage Crisis! Engaging the CGC Community for Solutions
Yassmine Akkari, Nationwide Children‘s Hospital
Brynn Levy, Columbia University Medical Center and New York Presbyterian Hospital
Liz Spiteri, Stanford University
Gold Vendor Showcase: BioDot
Don’t Simply Automate your FISH and Karyotyping Slide-Dropping Workflow. Improve it with BioDot’s CellWriter
Erica Phillips, BioDot
(No CME or CEUs available)
2:20 PM – 3:20 PM
Moderators: Avinash Dharmadhikari, Children‘s Hospital Los Angeles and Bahareh Adhami Mojarad, Washington University School of Medicine
Paired Exome Analysis in Mosaic Disease Yields Expanded Genotype-Phenotype Associations (Abstract 23)
Catherine Cottrell, Nationwide Children’s Hospital
Tissue-Based Sequencing for Laboratory Diagnosis of Somatic Mosaic Disorders (Abstract 24)
Runjun Kumar, Baylor College of Medicine
Genetic Spectrum of RAS alterations – A Highlight of In-Frame Insertion Variants in Association with Vascular Anomalies (Abstract 25)
Yang Cao, Washington University in St. Louis School of Medicine
Identification of Novel Genomic Structural Variations in Angiosarcoma by Optical Genome Mapping (Abstract 26)
Thuy Phung, University of South Alabama
Session 7 Q&A
Gold Vendor Showcase: Tempus
Gold Vendor Showcase: TwinStrand Biosciences
Reveal New Insights with the Advanced Sensitivity of Duplex Sequencing
Jesse Salk, TwinStrand Biosciences
3:30 PM – 4:00 PM
Moderator: Yang Cao, Washington University in St. Louis School of Medicine
Genome Sequencing in the Diagnosis of Myeloid Malignancies
Molly Schroeder, Washington University in St. Louis
4:00 PM – 4:45 PM
Attendee Break
4:45 PM – 5:15 PM
Moderator: Angela M. Lager, University of Chicago
Review and Comparison of the Oncomine Myeloid Assay GX v2 on Genexus System (Abstract 27)
Celeste Eno, Cedars-Sinai Medical Center
Detection of Small Mutations, Copy Number Alterations and Structural Variations from Targeted cfDNA Sequencing in Cancer (Abstract 28)
Jace Webster, Washington University in St. Louis
Tools for Functional Genomics Dataset Visualization and Analysis (Abstract 29)
Arpad Danos, Washington University in St. Louis
Semi-Automated Approaches for Digital Pathology Analyses Standardize Pathologic Assessment of Clinical Melanoma Biopsies (Abstract 30)
Katie Campbell, University of California, Los Angeles
Automated Fluorescence in Situ Hybridization (FISH) Imaging and Analysis Validation Using BioView Duet-3 System (Abstract 31)
Patrick R. Gonzales, University of Kansas Medical Center
Gold Vendor Showcase: Promega
The Addition of the OncoMate™ MSI Dx Analysis System and LMR MSI Analysis System to the Master Test List of the CAP MSI Proficiency Test
Marty Ensenberger, Promega Corporation
(No CME or CEUs available)
5:20 PM – 5:45 PM
Platinum Vendor Showcase: PGDx / Labcorp
Internalizing a Comprehensive Genomic Profiling Solution with a Path to Reimbursement
Ravindra Kolhe, Medical College of Georgia, Augusta University(No CME or CEUs available)
5:45 PM – 6:15 PM
Moderator: Alex Wagner, Nationwide Children’s Hospital
Next-Generation Curating: When Pathology Meets Bioinformatics
Valérie Barbié, Swiss Institute of Bioinformatics
Monday Afternoon Evaluation Form
6:15 PM – 7:45 PM
Monday, Main Event
Poster Session Viewing
7:45 PM – 9:00 PM
Early Career Social
Tuesday, August 2
8:00 AM – 9:00 AM
Moderators: Kilannin Krysiak, Washington University School of Medicine and
W. Bailey Glen, Medical University of South Carolina
Clin-MSI: A Machine Learning-Based Approach to MSI Detection in Endometrial Cancers (Abstract 32)
Elaine Mardis, Nationwide Children’s Hospital
Trainee Award
Computational Prediction of MHC Anchor Locations Guide Neoantigen Identification and Prioritization (Abstract 33)
Huiming Xia, Washington University in St. Louis
Discovery of Circular RNAs Through Integration of Short- and Long-Read RNA Sequencing (Abstract 34)
Sidi Zhao, Washington University in St. Louis
The Development, Testing, and Validation of an Automatic LIMS Import Method for NGS Myeloid Panel Results (Abstract 35)
Rebecca Smith, Genetics Associates, Inc.
Session 9 Q&A
Gold Vendor Showcase: ADS Biotec
HANABI-Curate: An Automated Solution for Organoid Establishment
Tyler Keeley, ADS Biotec
(No CME or CEUs available)
9:05 AM – 9:30AM
Platinum Vendor Showcase: Boston Gene
Developing Next Generation Biomarkers: A New Approach
Nathan Fowler, MD Anderson Cancer Center
(No CME or CEUs available)
9:30 AM – 10:30 AM
Keynote Presentation (Remote)
Moderator: Trevor Pugh, Princess Margaret Cancer Centre, University of Toronto
Using Genomics to Build Better Cancer Vaccines
Catherine Wu, Dana-Farber Cancer Institute
Gold Vendor Showcase: Genomenon
Comprehensive Analysis of Clinical Evidence for Somatic and Hereditary Cancers Using Mastermind
Dan O’Hara, Genomenon
(No CME or CEUs available)
10:35 AM – 11:15 AM
Attendee Break
11:15 AM – 12:15PM
Session 10: What is New in Genomics of Solid Tumors?
Moderators: Thuy Phung, University of South Alabama and
Meenakshi Mehrotra, Icahn School of Medicine at Mount Sinai
Clinical Utility of Copy Number Alteration Analysis in the Evaluation of Melanocytic Lesions for Diagnosis and Prognosis (Abstract 36)
Cynthia Reyes Barron, Pathology Professional Services
Trainee Award
Epigenetic Reprogramming of Brain Development Pathways During Non-Small Cell Lung Cancer Metastasis to Brain (Abstract 37)
Jennifer Karlow, Dana-Farber Cancer Institute
Technologist Award
Who’s Driving Treatment? Two Co-Occurring Driver Mutations in Primary Lung Adenocarcinoma (Abstract 38)
Danielle Salari, Atrium Health
Associations Between Somatically Altered Genes and Recurrence Outcomes in Estrogen Receptor Positive Breast Cancer(Abstract 39)
Meenakshi Anurag, Baylor College of Medicine
Session 10 Q&A
Gold Vendor Showcase: Pierian
Leading the Way in Genomics with World-Class Knowledge and an Assay Agnostic Technology Platform
Rakesh Nagarajan, Pierian
(No CME or CEUs available)
12:20 PM – 12:50PM
Invited Presentation (Remote)
Moderator: Marilena Melas, New York Genome Center
Long Molecule Footprints of Complex Cancer Genome Structure
Marcin Imielinski, New York Genome Institute
Tuesday Morning Evaluation Form
12:50 PM – 2:00 PM
Round Table Discussions: Topic Preselection Requested During Meeting Registration
If you are participating in virtual roundtable discussions, please reference your pre-event email with instructs to join your roundtable.
2:00 PM – 2:30PM
Moderator: Obi Griffith, Washington University School of Medicine
Genetic Ancestry, Somatic Alteration and Outcome
Jian Carrot-Zhang, Memorial Sloan-Kettering Cancer Center
Gold Vendor Showcase: Applied Spectral Imaging
The implementation of semi-automated FISH analysis of Acute Myeloid Leukemia on ASI’s HiFISH Platform
Jinglan Liu, Thomas Jefferson University
(No CME or CEUs available)
2:35 PM – 3:00PM
Platinum Vendor Showcase: Thermo Fisher Scientific
SNP Array Analysis of Borderline Melanocytic Tumors
Katherine Geiersbach, Mayo Clinic(No CME or CEUs available)
3:00 PM – 4:00 PM
Moderators: Celeste Eno, Cedars-Sinai Medical Center and
Casey Brewer, Cincinnati Children’s Hospital
Clonal Evolution of Cutaneous T Cell Lymphoma (CTCL) Revealed at Single Cell Resolution (Abstract 40)
Jacqueline Payton, Washington University School of Medicine
Characterizing Expression Profiles of Hodgkin and Follicular Lymphoma Using Single Nuclei RNA Sequencing (Abstract 41)
Felicia Gomez, Washington University School of Medicine
Optical Genome Mapping and 523-Gene Sequencing Panel for Comprehensive Genomic Evaluation of Myeloid Cancers (Abstract 42)
Nikhil Sahajpal, Augusta University
Association Between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes (Abstract 43)
Jie Liu, Washington University School of Medicine
Session 11 Q&A
Gold Vendor Showcase: nRICHDx
High Yield cfDNA Extraction Using the nRichDX® Revolution System™
Nafiseh Jafari, nRichDX
(No CME or CEUs available)
Gold Vendor Showcase: The Jackson Laboratory
Navigating Category Variant Relationships in the JAX Clinical Knowledgebase (CKB) to Guide Treatment Decisions
Cara Statz, The Jackson Laboratory
(No CME or CEUs available)
4:06 PM – 4:45 PM
Attendee Break
4:45 PM – 5:30PM
Diamond Vendor Showcase: Bionano
Moderator: Alka Chaubey, Bionano GenomicsOptical Genome Mapping and its integration with NGS for Clinical Research in leukemia and lymphoma
Yassmine Akkari, Nationwide Children’s Hospital
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center
Ravindra Kolhe, Augusta University
Brynn Levy, Columbia University Medical Center and New York Presbyterian Hospital
(No CME or CEUs available)
Gold Vendor Showcase: Genoox
Innovative Approaches for Whole Genome Analysis
Amir Trabelsi, Genoox
(No CME or CEUs available)
5:35 PM – 6:00 PM
Session 12: Lightning Talks – Biomarker Discovery and Reporting
Moderator: Alex Wagner, Nationwide Children’s Hospital
An International Landscape of Cancer NGS Reporting Practices (Abstract 44)
Beth Pitel, Mayo Clinic
Deconstruction of Pancreatic Ductal Adenocarcinoma Identifies Survival-Associated Tumor Microenvironmental Communities (Abstract 45)
Erik Storrs, Washington University School of Medicine
Data Driven Refinement of Gene Signatures for Enrichment Analysis and Cell State Characterization (Abstract 46)
Alexander Wenzel, University of California, San Diego
A Symbolic Regression Approach to Hepatocellular Carcinoma Diagnosis Using Circulating Cell-Free DNA (Abstract 47)
Rushank Goyal, Betsos
Refining the Drug-Gene Interaction Database for Precision Medicine (Abstract 48)
Matthew Cannon, Nationwide Children’s Hospital
Tuesday Afternoon Evaluation Form
6:45 PM – 9:00 PM
Tuesday, Main Event
After Hours Optional Social Activities Including:St. Louis Shakespeare in the Park
St. Louis Cardinals vs. Chicago Cubs
Dinner and Drinks in a Local Neighborhood Pub
Wednesday, August 3
8:30 AM – 9:00 AM
Session 13: Technical Challenges in Genomic Testing
Moderator: Amanda Fortier Sussman, University of Texas MD Anderson Cancer Center
Reduced Performance of Centromere 15 Probe in Association with African Ancestry (Abstract 49)
Linda Baughn, Mayo Clinic
Molecular Profiling of Cytolyt-Fixed FNA Washes to Improve Diagnostic Yield in Lung Cancer (Abstract 50)
Meenakshi Mehrotra, Mount Sinai Health System
Session 13 Q&A
9:00 AM – 9:20 AM
Gold Vendor Showcase: Agena Bioscience
Rethinking Solid Tumor Profiling: How the MassARRAY Compliments NGS to Optimize Testing Throughout the Treatment Journey
Jenni Braught, Agena Bioscience
(No CME or CEUs available)
9:25 AM – 9:50AM
Platinum Vendor Showcase: Invitae
Microsatellite Instability Detection with Anchored Multiplex PCR
Amber Carter, Invitae
(No CME or CEUs available)
9:50 AM – 10:50 AM
Moderator: Malachi Griffith, Washington University School of Medicine
Discovering New Biology and Function in Complete, Telomere-to-Telomere (T2T) Genomes
Karen Miga, University of California, Santa Cruz
Gold Vendor Showcase: Oxford NanoPore Technologies
(No CME or CEUs available)
10:55 AM – 11:35 AM
Attendee Break
11:35 AM – 12:00PM
Platinum Vendor Showcase: Roche Sequencing
Evaluation of the AVENIO Tumor Tissue Comprehensive Genomic Profiling (CGP) Kit
Stephanie Yuang, Roche Sequencing Solutions(No CME or CEUs available)
12:00 PM – 12:30PM
Moderator: Thuy Phung, University of South Alabama
What’s MDUFA got to do with it? Update on the Regulation of LDTs mid 2022
Eric Konnick, University of Washington