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 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 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 Medical

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
Predeep 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 – 12:15 PM

Speed Abstracts Session II
(No CME or CEUs available)

Moderator:
Emilie Lalonde, London Health Sciences Center

Clinical Utility of Optical Genome Mapping: Comparison with Standard Cytogenomics Work-up for Hematological Malignancies
Gokce Toruner, The University of Texas MD Anderson Cancer Center

High-risk genetic variants underlie unfavorable prognosis of B- lymphoblastic leukemia patients of Hispanic ethnicity
Wengyn Maximilian, 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
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. Louis

Real-World Analysis of Cytopenic Patients for Identification of Clonal Cytopenia(s) of Undetermined Significance (CCUS)
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center

Chromosomal Microarray Analysis Work-up for Hypocellular MDS Patients with Inconclusive Cytogenetics
Ha Nguyen, Northwestern Medicine
Technologist Award

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

Whole 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 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

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 Hospital

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 Mount Sinai

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

8:00 – 9:00 AM

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

Moderators:
Cate Paschal, Seattle Children’s Hospital
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

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 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 in St. Louis – 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

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 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

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 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 – Molecular Diagnostic Lab

Whole-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.

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 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, Washinton 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

9:00 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 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 Virginia
Trainee Award

Utilizing 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