2023 Scientific Program


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Cancer Genomics Consortium 14th Annual Meeting 
August 13 - 16, 2023
Hyatt Regency St. Louis at the Arch, St. Louis, Missouri


Download the CGC 2023 Scientific Agenda


Sessions will be recorded and available for later viewing for our participants in different time zones


Sunday, August 13, 2023

Pre-Meeting Workshops

9:00 - 10:30 AM

Bioinformatics Workshop: Exploring the Clinical Interpretation Resource Landscape

Moderator: Alex Wagner, Nationwide Children's Hospital
Beth Pitel, Mayo Clinic
Brendan Reardon, Dana Farber Cancer Center
Moriel Singer-Berk, Broad Institute


10:30 - 10:45 AM

Coffee Break for Workshop Attendees


10:45 AM - 12:15 PM

Case-Based Workshop: Assessment of the Genomic Changes in Clinical Cases: Things to Think About and How We Approached Them

Moderators: Teresa Smolarek, Cincinnati Children's Hospital Medical Center
and Celeste Eno, Cedars-Sinai

Lisa Brailey, Mt. Sinai School of Medicine
Celeste Eno, Cedars-Sinai
Jimbo Fan, University of Virginia
Elena Repnikova, University of Missouri-Columbia
Teresa Smolarek, Cincinnati Children's Hospital Medical Center

Opening of the 14th Annual Cancer Genomics Consortium

1:00 - 1:05 PM

Rashmi Kanagal-Shamanna, MD Anderson Cancer Center


1:05 - 1:15 PM


Presidential Address
Obi Griffith,
Washington University School of Medicine

1:15 - 2:15 PM

John DiPersio, CGC Annual Meeting Keynote Speaker

Keynote Presentation
Introduction: Obi Griffith, Washington University School of Medicine

CAR-T Therapies for T cell Malignancies
John DiPersio, Washington University School of Medicine

2:15 - 3:15 PM

Session 1: Applications of Emerging Technologies in Clinical Genomics

Moderators: Jane Houldsworth, Icahn School of Medicine at Mount Sinai and
Vivek Gupta, Government Institute of Medical Sciences, India

Clinical validation of plasma whole genome sequencing for detection of minimal residual disease from solid tumours
Felix Beaudry, Ontario Institute for Cancer Research

Personalized sequencing assays for cerebrospinal fluid liquid biopsies in children with brain tumors
Katherine Miller,
Nationwide Children's Hospital

Application of optical genome mapping to identify samples with homologous recombination deficiency
Alex Hastie, Bionano Laboratories

Comprehensive next generation cytogenomics improves risk stratification of acute myeloid leukemia
Stephen Eacker, Phase Genomics


3:15 - 4:00 PM


Coffee Break in the Exhibit Hall

Science Cafe Presentations: 

Genome Insight,
Erin Strong

4:00 - 4:30 PM
     Robert Hasserjian CGC 2023 Annual Meeting Invited Speaker

Invited Speaker Presentation
Introduction: Kristin Deeb, Emory University

NPM1 mutation in myeloid malignancies: Advancing precision medicine through molecular testing
Robert Hasserjian, Mass General Brigham

4:30 - 5:30 PM

Session 2: Advances in Cancer Informatics

Moderators: Alex Wagner, Nationwide Children's Hospital and
Brendan Reardon, Dana-Farber Cancer Institute

Technologist Award
Overcoming challenges in semantic alignment of therapeutics knowledge using TheraPy
James Stevenson, Nationwide Children's Hospital

Tracking immunotherapy response with single cell T Cell receptor profiling in canine models of cancer
Obi Griffith, Washington University School of Medicine

AI-Based algorithms for neoplastic metaphase cells boost efficiencies in the cytogenetics laboratory
Bo Hong,
 ARUP Laboratories

Trainee Award
Mapping variants from multiplex assays of variant effect (MAVEs) to human reference sequences
Jeremy Arbesfeld,
The Ohio State University


5:30 - 6:15 PM


CGC Scientific and Program Updates

Moderator: Rashmi Kanagal-Shamanna, MD Anderson Cancer Center

Implementation survey of the ACMG/CGC standards for interpretation of acquired CNAs and CN-LOH in neoplastic disorders
Fady Mikhail, University of Alabama at Birmingham

Current State of Diagnostic Testing in Pediatric Sarcoma: Practical Solutions to Diagnostic Challenges
Kathleen Schieffer, Nationwide Children's Hospital

CGC Early Career Program Updates
Rebecca Smith, Vanderbilt University Medical Center


CGC Education Program Updates
Teresa Smolarek, Cincinnati Children's Hospital Medical Center

6:15 - 6:45 PM


Speed Abstracts Session I: Use of Different Molecular Techniques to Diagnose Cancer

Moderator: Paulo Campregher, Hospital Israelita Albert Einstein
(No CME or CEUs available)

Evaluation of Hi-C versus optical genome mapping for diagnosing constitutional genomic structural variants
He Fang,
University of Washington

Endothelial cells are a key target of IFN-g during response to combined PD-1/CTLA-4 ICB treatment in bladder cancer
Sharon Freshour,
 Washington University School of Medicine

HPV forms chimeric virus-human transcripts that affect host gene expression in cervical tumors
Kay Jayachandran,
 Washington University School of Medicine

Concurrent systemic mastocytosis and T-lymphoblastic lymphoma unified by a novel cryptic JAKMIP2::PDGFRB rearrangement
Kevin Shopsowitz,
University of British Columbia 

Loss of MSH2 and MSH6 is frequently observed in prostate neoplasms with mismatch repair deficiency
Gokce Torunner,
 MD Anderson Cancer Center


6:45 - 7:00 PM


Platinum Vendor Showcase: Pacific BioSciences (PacBio)

A new age in cancer genomics from single cell transcriptomics to liquid biopsy
Jonathan Bibliowicz, Pacific BioSciences 
(No CME or CEUs available)


7:00- 8:30 PM


Welcome Reception 
CGC Exhibit Hall, Grand Ballroom ABCD

Monday, August 14, 2023

8:00 - 9:00 AM

Session 3: Genomic Resources for Variant Curation and Standardization

Moderators: Melissa Cline, UC Santa Cruz Genomics Institute and 
Lisa Lansdon, University of Missouri Kansas City - School of Medicine

ClinGen Cancer Variant Interpretation (CVI) Committee: Pilot guidance for somatic cancer variant curation expert panels
Deborah Ritter, Baylor College of Medicine

Djerba: A modular system to generate clinical genome interpretation reports for cancer
Iain Bancarz, Ontario Institute for Cancer Research

Investigation of pathogenic and truncated variants of RUNX1 and DDX41 in All of Us
Huan Mo, National Human Genome Research Institute

Developing a generalized model for variants in CIViC
Arpad Danos, Washington University School of Medicine

9:00 - 10:00 AM
Olufunmilayo Olapade, CGC 2023 keynote speaker

Keynote Presentation
Introduction: Gordana Raca, Children's Hospital Los Angeles

Heterogeneity of breast cancer genomes: Going beyond therapy to risk assessment and prevention
Olufunmilayo Olopade, University of Chicago


10:00 - 10:45 AM


Coffee Break in the Exhibit Hall

Science Cafe Presentation:


10:45 - 11:45 AM

Session 4: Clinical Utility of Genomic Testing for Identification and Potential for Therapy Selection in Solid Tumors

Moderators: Teresa Smolarek, Cininnati Children's Hospital Medical Center and
Sadif Saba, Cininnati Children's Hospital Medical Center

Comparative analysis of RNA expression identifies druggable targets in difficult-to-treat pediatric solid tumors
Yvonne Vasquez, University of California, Santa Cruz

Comprehensive 'Omic' profiling reveals 'atypical oligodendrogliomas' which challenge CNS diagnostic classification
Adrian Dubuc, Brigham and Women's Hospital

Cell-free DNA genomic and epigenomic analysis to predict survival in mCRPC patients treated with AR-directed therapy
Pradeep Chauhan, Washington University School of Medicine 

Optical genome mapping reveals new insights into ZFTA fusion in supratentorial ependymomas
Jianling Ji,
Children's Hospital Los Angeles, USC

11:45 AM - 12:15 PM

Speed Abstracts Session II

Moderator: Emilie Lalonde, London Health Sciences Center
(No CME or CEUs available)

Clinical utility of optical genome mapping: Comparison with standard cytogenomics work-up for hematological malignancies
Gokce Toruner,
 MD Anderson Cancer Center

High-risk genetic variants underlie unfavorable prognosis of B-lymphoblastic leukemia patients of Hispanic ethnicity
Wengyn Maximillian,
 Children's Hospital Los Angeles

Improving interoperability of therapeutics and their targets for clinical and precision medicine applications
Matthew Cannon,
Nationwide Children's Hospital

Five-year experience of evaluating individuals at-risk for underlying genetic predisposition to hematologic malignancy
Min Fang,
Fred Hutchinson Cancer Center

Analytical validation of an optical genome mapping assay for structural variant detection in hematologic malignancies
Trilochan Sahoo,
 Bionano Laboratories


12:15 - 12:30 PM


Platinum Vendor Showcase: Thermo Fisher Scientific

Using OncoScan to address challenges calling genomic instability in solid tumor samples
Caleb Kidwell, Quantigen Biosciences and
Mary Napier, Thermo Fisher Scientific
(No CME or CEUs available)


12:30 - 1:00 PM


Diamond Vendor Showcase: Bionano Genomics

Unleashing genomic insights that matter with optical genome mapping: An interactive panel discussion
Moderator: Alka Chaubey, Bionano Genomics
Yassmine Akkari, Nationwide Children's Hospital
Ravindra Kolhe, Augusta University
Sachin Jadav, HealthCare Global

(No CME or CEUs available)


1:00 - 2:00 PM


Buffet Lunch in the Exhibit Hall
Exhibit Hall and Foyer


2:00 - 3:00 PM


Session 5: Hematological Malignancies 

Moderators: Gordana Raca, Children's Hospital Los Angeles and
Patricia Hernandez, Washington University in St. Louis

Real-world analysis of cytopenic patients for identification of clonal cytopenia(s) of undetermined significance (CCUS)
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center

Technologist Award
Chromosomal microarray analysis work-up for hypocellular MDS patients with inconclusive cytogenetics
Ha Nguyen, Northwestern Medicine

Prognostic significance of copy number gain of MYC detected by FISH analysis in large B-cell lymphoma
Madina Sukhanova, Northwestern University Feinberg School of Medicine

Trainee Award
Whole transcriptome sequencing as a diagnostic tool for AML
Victória Tomaz, Hospital Israelita Albert Einstein

3:00 - 3:30 PM
Francesc Sole CGC 2023 Invited Speaker

Invited Speaker Presentation
Introduction: Brynn Levy, Columbia University School of Medicine

Cytogentics is still useful in the era of genomics 
Francesc Sole, Josep Carreras Leukaemia Research Institute

3:30 - 4:00 PM

Session 6: Integration of Novel Technologies in the Clinical Cancer Genomics Laboratory for Improving Patient Care

Moderator: Angela M. Lager, University of Chicago

Optical genome mapping identifies additional cytogenetic abnormalities in patients with hematologic malignancies
Sachin Jadhav, HealthCare Global

Comprehensive genomic characterization of infantile cancers reveals high yield of therapeutically targetable alterations
Mariam Mathew, Nationwide Children's Hospital


4:00 - 4:45 PM


Coffee Break in the Exhibit Hall

Science Cafe Presentations: 

Oxford Gene Technology (OGT), Jace Doshier


4:45 - 5:00 PM


Platinum Vendor Showcase: Novartis

The growing role of molecular diagnostics in cancer care
Roger Bishop, Novartis Precision Medicine

(No CME or CEUs available)

5:00 PM - 5:30 PM

Speed Abstracts Session III: Analytic and Post Analytic Improvements in Genomics for Establishment of Efficient Clinical Workflows and Management in Patient Care

Moderator: Meenakshi Mehrota, Mount Sinai Hospital
(No CME or CEUs available)

Evolution of a variant curation procedures in the open-access cancer variant interpretation knowledgebase CIViC
Kilannin Krysiak, Washington University School of Medicine

Gene normalizer: a tool to resolve genetic ambiguity through data harmonization
Anastasia Smith, The Ohio State University

Cell-type-specific genetic-to-epigenetic relationships in the human breast
Axel Hauduc, University of British Columbia 

Assessment of TRG and TRB clonality by NGS of dermatologic specimens is impacted by biopsy type, DNA and amplicon sizes
Jane Houldsworth, Icahn School of Medicine at Mt. Sinai

Genomic microarray analysis reveals heterogeneity in high hyperdiploid B-cell acute lymphoblastic leukemia
Julie Feusier, ARUP Laboratories-Phoenix Children's 

5:30 - 6:00 PM
Rosalind Hastings CGC 2023 Spotlight Symposium Speaker

Spotlight Symposium 
Introduction: Alex Wagner, Nationwide Children's Hospital

ISCN 2024 update including a preview of the new genomic mapping nomenclature
Rosalind Hastings, ISCN Standing Committee Chair & GenQA Consultant; Oxford University Hospitals NHS Foundation Trust

6:00 - 7:00 PM

Poster Viewing Session
Exhibit Hall


7:00 - 8:00 PM


Early Career Social
For attendees in training or recently out of training
Park View Room, Fourth Floor


8:00 - 11:00 PM

CGC Social: Celebrating YOU- The Stars of Genomics
Supported by Bionano

All CGC 2023 attendees are invited to join the festivities on the Hyatt Regency rooftop overlooking St. Louis, the Mississippi River, and the Gateway Arch.

Tuesday, August 15, 2023

8:00 - 9:00 AM

Session 7: Bioinformatics, Artifical Intelligence, AND Machine-Learning

Moderators: Cate Paschal, Seattle Children's Hospital and Jeanine Ruggeri, University of Colorado

Cell-free DNA fragmentation profiling as a method for tumor fraction assessment and treatment monitoring in NSCLC
Zachary Skidmore, Delfi Diagnostics

Resolving ambiguities in copy number variation representation
Kori Kuzma, Nationwide Children's Hospital

Automated deep aberration detection from chromosome karyotype images
Min Fang, Fred Hutchinson Cancer Research Center

Fusion curation interface: An educational tool to explore a unified framework for representing & curating gene fusions
Kathryn Stahl, Nationwide Children's Hospital
Technologist Award

9:00 - 10:00 AM
Guillermo Garcie-Manero CGC 2023 keynote speaker

Keynote Presentation
Introduction: Rashmi Kanagal-Shamanna, MD Anderson Cancer Center

Incorporating genomic information in the treatment of MDS
Guillermo Garcia-Manero, MD Anderson Cancer Center


10:00 - 10:45 AM


Coffee Break in the Exhibit Hall

Science Cafe Presentations: 

nRichDX, Nafiseh Jafari
GT Molecular, Stephanie Barbari

10:45 - 11:45 AM

Session 8: Value of Novel Technologies for the Identification of Clonal Aberrations different from Standard of Care Findings in Hematologic Malignancies

Moderators: Min Fang, Fred Hutchinson Cancer Center and Xiaoyu Qu, Fred Hutchinson Cancer Center

Frequency and etiology of cytogenetically cryptic oncogenic fusions in pediatric AML
Gordana Raca, Children's Hospital Los Angeles

Clonal hematopoiesis in childhood cancer survivors
Irenaeus Chan, Washington University School of Medicine

Integrative cytogenetic and molecular studies unmasks 'Chromosomal Mimicry' in hematologic malignancies
Samuel Brody, Brigham and Women's Hospital

Optical genome mapping in hematological malignancy: Clinical outcomes in a 2-year follow-up retrospective study
Nikhil Sahajpal, Greenwood Genetic Center

11:45 AM - 12:15 PM
Jennelle Hodge

Spotlight Symposium: WHO/IARC Overview and CGC Collaboration
Introduction: Rashmi Kanagal-Shamanna, MD Anderson Cancer Center

Dilani Lokuhetty, International Agency for Research on Cancer (IARC) and
Jennelle Hodge, Indiana University School of Medicine


12:15 - 12:30 PM


Platinum Vendor Showcase: Imagia Canexia Health

Machine learning method for identifying microsatellite instability (MSI) DNA samples without matched normal
Vincent Funari, Imagia Canexia Health

(No CME or CEUs available)


12:30 - 12:45 PM


Platinum Vendor Showcase: Qiagen
(No CME or CEUs available)

12:45 - 2:00 PM

Round Table Discussions with Lunch
Please sign up for table topics during meeting registration.
Hyatt Regency, Fourth Floor Foyer and Mills Meeting Rooms


2:00 - 3:00 PM


Session 9: Applications of Emerging Technologies in Clinical Genomics

Moderators: Patricia Miron, UMass Memorial Center and Barbara Nelson, Vanderbilt University Medical Center

Targeted RNA-Seq on fresh frozen and methanol/acetic acid fixed cells in diagnostic workup of hematologic malignancies
Xiaoyu Qu, Fred Hutchinson Cancer Center

A novel method for detection of loss of heterozygosity using B-allele frequency from optical genome mapping data
Aliz Raksi, Bionano Laboratories

Analysis of Gene Rearrangements in Neoplasms with Hi-C Sequencing Using Fresh-Frozen and FFPE Specimens
Yajuan Liu, University of Washington-Seattle

Rare SRY-positive derivative X chromosome in female fetus with apparently normal development
Casey Brewer, Cincinnati Children's Hospital Medical Center

3:00 - 3:30 PM
Joseph Khoury CGC 2023 Invited Speaker

Invited Speaker Presentation
Introduction: Panieh Terraf, Memorial Sloan Kettering Cancer Center

TP53 alterations in myelodysplastic neoplasms and acute myeloid leukemia
Joseph Khoury, University of Nebraska Medical Center

3:30 - 4:15 PM

Coffee Break in the Exhibit Hall

Science Cafe Presentations: 

Constantium Biosciences, Nicholas Schafer


4:15 - 4:30 PM


Platinum Vendor Showcase: SOPHiA Genetics

Liquid Biopsy - From individual markers to tumor signal
Florian Klemm, SOPHiA Genetics
(No CME or CEUs available)

4:30 - 5:00 PM

Speed Abstracts Session IV

Moderator: Sara Akhavanfard, University Hospitals Cleveland Medical Center
(No CME or CEUs available)

ClinGen Pediatric Cancer Taskforce initiatives to advance pediatric clinical interpretations through expert curation
Jason Saliba, Washington University School of Medicine

Uveal Melanoma - The New Zealand Perspective
Amanda Dixon-McIver, IGENZ

VMD4Kids: A highly sensitive NGS panel to detect low-level mosaic variants in vascular anomalies & overgrowth disorders
Avinash Dharmadhikari, Children's Hospital Los Angeles

Clinical validation and implementation of exome, transcriptome and whole genome sequencing for pediatric cancers
Alexandre Rouette, CHU Sainte-Justine 

Whole-exome sequencing identifies somatic mutations penile squamous cell carcinoma
Kelly Duarte, University of Sao Paulo

5:00 - 5:30 PM
Jeremy Segal CGC 2023 Spotlight Syposium Speaker

Spotlight Symposium: GOAL Consortium
Introduction: Angela Lager, University of Chicago

Jeremy Segal, University of Chicago

5:30 - 9:00 PM
Optional After Hours Social Activities
On-site registration may be available - please check with the meeting registration desk if you are interested  in attending one of the social activities. Participants pick up tickets at the CGC 2023 Registration Desk. 

St. Louis Riverboat Cruise:
Meet at 5:30 PM in the Hyatt Regency Lobby to walk to the river entrance on the far side of the arch. Boat loads at 5:45 PM and departs promptly at 6:00 PM. Cruise is one hour in length.

St. Louis Cardinals vs. Oakland Athletics:
Meet at 6:00 PM in the Hyatt Regency Lobby to walk to the event together or join the group at Busch Stadium. Game starts at 6:45 PM.

Wednesday, August 16, 2023

8:30 - 9:30 AM

Session 10: Understanding Genomic Variants in Clinical Practice

Moderators: Huan Mo, NHGRI and Ngonidzashe Faya, Cincinnati Children's Hospital Medical Center

Curating variants of established clinical significance
Mariam Khanfar, Washington University School of Medicine

Implementing the ClinGen/CGC/VICC Oncogenicity Guidelines in a pediatric variant classification workflow
Wesley Goar, Nationwide Children's Hospital

Oncogenic assessment of FLT3 Variants by the ClinGen FLT3 Somatic Cancer Variant Curation Expert Panel
Jason Saliba, Washington University School of Medicine

Feasibility, Accuracy and usability analysis of MapAML, a first-in-class app for integrated diagnosis in AML
Thais Moyen, Hospital Israelita Albert Einstein

9:30 -10:30 AM
David Beck, CGC 2023 keynote speaker

Keynote Presentation
Introduction: Celeste Eno, Cedars-Sinai Medical Center

Somatic mutations and their contribution to bone marrow failure and inflammation
David Beck, New York University School of Medicine


10:30 - 11:15 AM


Coffee Break in the Exhibit Hall

11:15 AM - 12:15 PM

Session 11: Solid Tumors

Moderators: Thuy Phung, University of South Alabama and
Casey Brewer, Cincinnati Children's Hospital Medical Center

A cell-free DNA 5-hydroxymethylcytosine marker predicts immunotherapy response in lung cancer
Zejuan Li,
Houston Methodist

Profiling PIK3CA Variants - a highlight of C2 domain variants in disorders of Somatic Mosaicism
Yang Cao, Washington University in St. Louis

A female-specific chimeric RNA with differential expression in COVID patients
Xinrui Shi, University of Virgina

Trainee Award

Utilizing rapid molecular testing to reduce disparities in pediatric cancer in Sub-Saharan Africa
Julie Gastier-Foster, Baylor College of Medicine - Texas Children's Hospital


12:15 - 12:45 PM


CGC 2023 Business Meeting