Educating for Best Practices in Clinical Cancer Genetics
14th Annual Meeting of the Cancer Genomics Consortium (CGC)
August 13 – 16, 2023 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 2023 Scientific Program are in the US Central Time Zone.
Sunday, August 13
1:00 PM – 1:05 PM
Welcome
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center
1:05 PM – 1:15 PM
Presidential Address
Obi Griffith, Washington University School of Medicine
1:15 – 2:15 PM
Keynote Presentation: CAR-T Therapies for T cell Malignancies
John DiPersio, Washington University School of Medicine
2:15 – 2:30 PM
Session 1: Applications of Emerging Technologies in Clinical Genomics
Moderators:
Jane Houldsworth, Icahn School of Medicine at Mount Sinai
Vivek, Gupta, Government Institute of Medical Sciences, IndiaClinical Validation of Plasma Whole Genome Sequencing for Detection of Minimal Residual Disease from Solid Tumours
Felix Beaudry, Ontario Institute for Cancer ResearchPersonalized sequencing assays for cerebrospinal fluid liquid biopsies in children with brain tumors
Katherine Miller, Nationwide Children’s HospitalApplication of optical genome mapping to identify samples with homologous recombination deficiency
Alex Hastie, Bionano LaboratoriesComprehensive next generation cytogenomics improves risk stratification of Acute Myeloid Leukemia
Stephen Eacker, Phase Genomics/Fred Hutchinson Cancer Center
3:15 – 4:00 PM
Coffee Break
4:00 – 4:30 PM
Invited Speaker Presentation: 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
Brendan Reardon, Dana-Farber Cancer InstituteOvercoming challenges in semantic alignment of therapeutics knowledge using Therapy
James Stevenson, Nationwide Children’s Hospital
Technologist AwardTracking Immunotherapy Response with Single Cell T Cell Receptor Profiling in Canine Models of Cancer
Obi Griffith, Washington University School of MedicineAI-Based Algorithms for Neoplastic Metaphase Cells Boost Efficiencies in the Cytogenetics Laboratory
Bo Hong, ARUP LaboratoriesMapping variants from multiplex assays of variant effect (MAVEs) to human reference sequences
Jeremy Arbesfeld, The Ohio State University
Trainee Award
5:30 – 6:15 PM
CGC Scientific and Program Updates
Moderator:
Rashmi Kanagal-Shamanna, MD Anderson Cancer CenterImplementation survey of the ACMG/CGC standards for interpretation of acquired CNAs and CN-LOH in neoplastic disorders
Fady Mikhail, University of Alabama at BirminghamCurrent State of Diagnostic Testing in Pediatric Sarcoma: Practical Solutions to Diagnostic Challenges
Kathleen Schieffer, Nationwide Children’s HospitalCGC Early Career Program Updates
Rebecca Smith, Vanderbilt University Medical CenterCGC 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 Evaluation of Hi-C versus Optical Genome Mapping for Diagnosing Constitutional Genomic Structural Variants
He Fang, University of WashingtonEndothelial 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 MedicineHPV forms chimeric virus-human transcripts that affect host gene expression in cervical tumors
Kay Jayachandran, Washington University School of MedicineConcurrent Systemic Mastocytosis and T-Lymphoblastic Lymphoma Unified by a Novel Cryptic JAKMIP2::PDGFRB Rearrangement
Kevin Shopsowitz, University of British ColumbiaLoss of MSH2 and MSH6 is frequently observed in prostate neoplasms with mismatch repair deficiency
Gokce Toruner, The University of Texas MD Anderson Cancer Center
6:45 – 7:00 PM
Platinum Vendor Showcase: Pacific BioSciences | 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
8:00 – 9:00 AM
Session 3: Genomic Resources for Variant Curation and Standardization
Moderators:
Melissa Cline, UC Santa Cruz Genomics Institute
Kilannin Krysiak, Washington University School of MedicineClinGen Cancer Variant Interpretation (CVI) Committee: Pilot Guidance for Somatic Cancer Variant Curation Expert Panels
Deborah Ritter, Baylor College of MedicineDjerba: A Modular System to Generate Clinical Genome Interpretation Reports for Cancer
Iain Bancarz, Ontario Institute for Cancer ResearchInvestigation of pathogenic and truncated variants of RUNX1 and DDX41 in All of Us
Huan Mo, National Human Genome Research InstituteDeveloping a generalized model for variants in CIViC
Arpad Danos, Washington University in St. Louis
9:00 AM – 10:00 AM
Keynote Presentation: 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
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, Cincinnati Children’s Hospital Medical Center
Sadif Saba, Cincinnati Children’s Hospital MedicalComparative analysis of RNA expression identifies druggable targets in difficult-to-treat pediatric solid tumors
Yvonne Vasquez, University of California, Santa CruzComprehensive ‘Omic’ Profiling Reveals ‘Atypical Oligodendrogliomas’ which Challenge CNS Diagnostic Classification
Adrian Dubuc, Brigham and Women’s HospitalCell-free DNA genomic and epigenomic analysis to predict survival in mCRPC patients treated with AR-directed therapy
Predeep Chauhan, Washington University School of MedicineOptical Genome Mapping Reveals New Insights into ZFTA Fusion in Supratentorial Ependymomas
Jianling Ji, Children’s Hospital Los Angeles, USC
11:45 – 12:15 PM
Speed Abstracts Session II
(No CME or CEUs available)Moderator:
Emilie Lalonde, London Health Sciences CenterClinical Utility of Optical Genome Mapping: Comparison with Standard Cytogenomics Work-up for Hematological Malignancies
Gokce Toruner, The University of Texas MD Anderson Cancer CenterHigh-risk genetic variants underlie unfavorable prognosis of B- lymphoblastic leukemia patients of Hispanic ethnicity
Wengyn Maximilian, Children’s Hospital Los AngelesImproving interoperability of therapeutics and their targets for clinical and precision medicine applications
Matthew Cannon, Nationwide Children’s HospitalFive-year Experience of Evaluating Individuals At-risk for Underlying Genetic Predisposition to Hematologic Malignancy
Min Fang, Fred Hutchinson Cancer CenterAnalytical 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
Panelists:
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
Exhibit Hall and Foyer
2:00 – 3:00 PM
Session 5: Hematological Malignancies
Moderators:
Gordana Raca, Children’s Hospital Los Angeles
Patricia Hernandez, Washington University in St. LouisReal-World Analysis of Cytopenic Patients for Identification of Clonal Cytopenia(s) of Undetermined Significance (CCUS)
Rashmi Kanagal-Shamanna, MD Anderson Cancer CenterChromosomal Microarray Analysis Work-up for Hypocellular MDS Patients with Inconclusive Cytogenetics
Ha Nguyen, Northwestern Medicine
Technologist AwardPrognostic significance of copy number gain of MYC detected by FISH analysis in large B-cell lymphoma
Madina Sukhanova, Northwestern Medicine Feinberg School of MedicineWhole transcriptome sequencing as a diagnostic tool for AML
Victória Tomaz, Hospital Israelita Albert Einstein
Trainee Award
3:00 – 3:30 PM
Invited Speaker Presentation: Cytogenetics 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 ChicagoOptical Genome Mapping identifies additional cytogenetic abnormalities in patients with hematologic malignancies
Sachin Jadhav, Healthcare GlobalComprehensive 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
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 – 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
(No CME or CEUs available)Moderator:
Meenakshi Mehrota, Mount Sinai HospitalEvolution of a variant curation procedures in the open-access cancer variant interpretation knowledgebase CIViC
Kilannin Krysiak, Washington University School of MedicineGene Normalizer: a tool to resolve genetic ambiguity through data harmonization
Anastasia Smith, The Ohio State UniversityCell-type-specific genetic-to-epigenetic relationships in the human breast
Axel Hauduc, University of British ColumbiaAssessment 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 Mount SinaiGenomic microarray analysis reveals heterogeneity in high hyperdiploid B- cell acute lymphoblastic leukemia
Julie Feusier, ARUP Laboratories – Phoenix Children’s
5:30 – 6:00 PM
Spotlight Symposium: 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
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
8:00 – 9:00 AM
Session 7: Bioinformatics, Artifical Intelligence, AND Machine-Learning
Moderators:
Cate Paschal, Seattle Children’s Hospital
Jeanine Ruggeri, University of ColoradoCell-free DNA fragmentation profiling as a method for tumor fraction assessment and treatment monitoring in NSCLC
Zachary Skidmore, Delfi DiagnosticsResolving Ambiguities in Copy Number Variation Representation
Kori Kuzma, Nationwide Children’s HospitalAutomated Deep Aberration Detection from Chromosome Karyotype Images
Min Fang, Fred Hutchinson Cancer Research CenterFusion 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
Keynote Presentation: Incorporating genomic information in the treatment of MDS
Guillermo Garcia-Manero, MD Anderson Cancer Center
10:00 – 10:45 AM
Coffee Break
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
Xiaoyu Qu, Fred Hutchinson Cancer CenterFrequency and Etiology of Cytogenetically Cryptic Oncogenic Fusions in Pediatric AML
Gordana Raca, Children’s Hospital Los AngelesClonal Hematopoiesis in Childhood Cancer Survivors
Irenaeus Chan, Washington University in St. Louis – School of MedicineIntegrative Cytogenetic and Molecular Studies Unmasks ‘Chromosomal Mimicry’ in Hematologic Malignancies
Samuel Brody, Brigham and Women’s HospitalOptical 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
Spotlight Symposium: WHO/IARC Overview and CGC Collaboration
Dilani Lokuhetty, International Agency for Research on Cancer (IARC)
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 conference registration.
2:00 – 3:00 PM
Session 9: Applications of Emerging Technologies in Clinical Genomics
Moderators:
Patricia Miron, UMass Memorial Center
Barbara Nelson, Vanderbilt University Medical CenterTargeted RNA-Seq on fresh frozen and methanol/acetic acid fixed cells in diagnostic workup of hematologic malignancies
Xiaoyu Qu, Fred Hutchinson Cancer CenterA novel method for detection of loss of heterozygosity using B-allele frequency from optical genome mapping data
Aliz Raksi, Bionano LaboratoriesAnalysis of Gene Rearrangements in Neoplasms with Hi-C Sequencing Using Fresh-Frozen and FFPE Specimens
Yajuan Liu, University of Washington-SeattleRare 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
Invited Speaker Presentation: TP53 alterations in myelodysplastic neoplasms and acute myeloid leukemia
Joseph Khoury, University of Nebraska Medical Center
3:30 – 4:15 PM
Coffee Break
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 MedicineUveal Melanoma – The New Zealand Perspective
Amanda Dixon-McIver, IGENZVMD4Kids: A highly sensitive NGS panel to detect low-level mosaic variants in vascular anomalies & overgrowth disorders.
Avinash Dharmadhikari, Children’s Hospital Los AngelesClinical validation and Implementation of exome, transcriptome and whole genome sequencing for pediatric cancers
Alexandre Rouette, CHU Sainte-Justine – Molecular Diagnostic LabWhole-exome sequencing identifies somatic mutations penile squamous cell carcinoma
Kelly Duarte, University of Sao Paulo
5:00 – 5:30 PM
Spotlight Symposium: GOAL Consortium
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
8:30 AM – 9:00 AM
Session 10: Understanding Genomic Variants in Clinical Practice
Moderators:
Huan Mo, NHGRI
Ngonidzashe Faya, Cincinnati Children’s Hospital Medical CenterCurating Variants of Established Clinical Significance
Mariam Khanfar, Washington University School of MedicineImplementing the ClinGen/CGC/VICC Oncogenicity Guidelines in a Pediatric Variant Classification Workflow
Wesley Goar, Nationwide Children’s HospitalOncogenic assessment of FLT3 Variants by the ClinGen FLT3 Somatic Cancer Variant Curation Expert Panel
Jason Saliba, Washinton University School of MedicineFeasibility, Accuracy and usability analysis of MapAML, a first-in-class app for integrated diagnosis in AML
Thais Moyen, Hospital Israelita Albert Einstein
9:00 AM – 9:20 AM
Keynote Presentation: 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
11:15 – 12:15 PM
Session 11: Solid Tumors
Moderators:
Thuy Phung, University of South Alabama and
Casey Brewer, Cincinnati Children’s Hospital Medical CenterA cell-free DNA 5-hydroxymethylcytosine marker predicts immunotherapy response in lung cancer
Zejuan Li, Houston MethodistProfiling PIK3CA Variants – a highlight of C2 domain variants in Disorders of Somatic Mosaicism
Yang Cao, Washington University in St. LouisA female-specific chimeric RNA with differential expression in COVID patients
Xinrui Shi, University of Virginia
Trainee AwardUtilizing Rapid Molecular Testing to Reduce Disparites 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