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


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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

Session 1: Integrating Novel Genomic Alterations for Pathologic Classification and Clinical Risk Assessment in Pediatric and Adult Leukemias

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 Center

IDH1 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

Invited Presentation

Moderator: Gordana RacaChildren‘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 Toronto

The 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 Viewing
On-Site Location: Exhibit Hall (Majestic A-D)

Monday, August 1

8:00 AM – 9:00 AM

Session 5: Implementation of New and Emerging Technologies in Oncologic Laboratories for Improving Patient Care

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

Keynote Presentation

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

Session 6: Genomic Resources for Data Curation, Variant Interpretation, and Nomenclature Standardization

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

Panel Discussion

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

Session 7: Application of High-Depth and Novel Genomic Testing Methodologies in the Comprehensive Analyses of Vascular Anomalies and Somatic Mosaic Disorders

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

Invited Presentation

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

Session 8: Lightning Talks – Instrumentation and Software Development for the Discovery and Analysis of Cancer Variants

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

Invited Presentation

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

Session 9: Advancing Cancer Genetic Testing Through Novel Bioinformatic, Machine Learning, and Clinical Informatic Approaches

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

Invited Presentation

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

Session 11: Expanded Horizons in Hematologic Malignancies: Clonal Behaviors and Novel Genomic Approaches

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 Genomics

Optical 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

CGC Program Updates

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

Keynote Presentation

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

Invited Presentation

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

12:30 PM – 1:00 PM

CGC Business Meeting & Closing Remarks

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