On Demand Sessions available January 2022
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On Demand
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PLENARY SESSIONS
At the Intersection of Precision Medicine and Machine Learning
Eliezer Van Allen, MD, Dana Farber Cancer Institute, Brookline, MA, USA
Characterizing Somatic Mutations in Non-Cancerous Cells
Peter J. Park, PhD, Harvard Medical School, Boston, MA, USA
Pathways Towards an HIV Cure? Implications for Molecular Diagnostics
Deborah Persaud, MD, Johns Hopkins University School of Medicine, Baltimore, MD, USA
MRD for Lymphoma Beyond Immunoglobulin
Ash Alizadeh, MD, PhD, Color Health, Stanford, CA, USA
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On Demand
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SYMPOSIA SESSIONS
Applications of Therapeutic Gene Editing
Development and Application of Genome Editing Technologies
Fyodor Urnov, PhD, University of California, Berkeley, CA, USA
Gene Editing for the Treatment of Red Blood Cell Disorders
Haydar Frangoul, MD, Sarah Cannon Center for Blood Cancer, Nashville, TN, USA
Cool New Tech for At-Home Testing
Rapid, Point-of-Care Diagnostics
Nira Pollock
Amplification-free detection of SARS-CoV-2 with CRISPR and a mobile phone
Melanie Ott, MD, PhD, Gladstone Institute of Virology and UCSF, San Francisco, CA, USA
Genetic Healthcare Disparities
Tumor Heterogeneity and Cancer Health Disparities
John Carpten, PhD, University of Southern California, Los Angeles, CA, USA
Diversity reduces health information disparities and enhances the impact of genomic medicine
Lucia Hindorff, PhD, MPH, National Human Genome Research Institute, Bethesda, MD, USA
Lack of Diversity in Genomics and Implications for Clinical Genetics
Alice B. Popejoy, PhD, University of California, Davis, Sacramento, CA, USA
Liquid Biopsy and MRD
Use of Patient Specific Panels for MRD Detection
Viktor Adalsteinsson, PhD, Broad Institute of MIT and Harvard, Wakefield, MA, USA
Low Coverage Whole Genome Sequencing
Using Low Coverage Whole Genome Sequencing to Assess Genome-wide Variation and Polygenic Scores
Julian Homburger, PhD, Color Health, Alamo, CA, USA
New Applications of CAR T-Cells
CAR T-cell therapies for autoimmune diseases
Michael Milone, MD, PhD, University of Pennsylvania, Philadelphia, PA, USA
“Mechanisms of CAR T cells”
Macela Maus, MD, PhD, Massachusetts General Hospital East, Charlestown, MA, USA
New Insights into Cancer Biology from DNA Mutational Signatures
The Repertoire of Mutational Signatures in Human Cancer
Ludmil B. Alexandrov, PhD, University of California San Diego, La Jolla, CA, USA
Ongoing efforts to identify causes of currently unexplained signatures
Serena Nik-Zainal, MD, PhD, University of Cambridge, Cambridge, United Kingdom
Practical Issues with Quantitative Molecular Testing for Infectious Diseases
Current State of HCV Reflex Testing
Rebecca Harris, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA, USA
Challenges in Quantitative CMV Testing and Interpretation
Randall Hayden, MD, St. Jude Children's Research Hospital, Memphis, TN, USA
Practical Considerations to Optimize Algorithmic Testing for the Diagnosis of HIV
Blake W. Buchan, PhD, Medical College of Wisconsin, Milwaukee, WI, USA
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On Demand
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BREAKOUT SESSIONS
Alternative Perspectives to Multi-omics Single-cell Analysis
Alternative Perspectives to Multi-omics Single-cell Analysis
Robert B. Faryabi, PhD, MSc, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Tracking the Global Spread of Mutli-Drug Resistant Organisms
The Genomics, Evolution, and Spread of Drug-resistant Neisseria gonorrhoeae
Yonatan Grad, MD, PhD, Harvard Chan School of Public Health, Boston, MA, USA
Tracking the Global Spread of Mutli-Drug Resistant Organisms
Paul J. Planet, MD, PhD, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA, USA
New Developments in Mitochondrial DNA Variant Identification and Classification
Mitochondrial DNA Variant Classification and MITOMAP
Marni J. Falk, MD, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Mitochondrial DNA Disease and Relationship with Variants
Douglas Wallace, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA
Promises & Pitfalls of EHR-based Variant Reanalysis
Variant Reclassification and Reinterpretation - Challenges and Opportunities in Current and Future EHR Usability and Function
Alexis Carter, MD, Children’s Healthcare of Atlanta, Atlanta, GA, USA
Promises & Pitfalls of EHR-based Variant Reanalysis
Marc Williams, MD, Geisenger Genomic Medicine Institute, Danville, PA, USA
Considerations for the Optimal Detection of Clinically Relevant Fusions in Solid Tumors
Detection of Gene Fusions in Cancer
John Iafrate, MD, PhD, Massachusetts General Hospital, Boston, MA, USA
Clinical Fusion Detection Approaches and Methodologies
Susan Hsiao, MD, PhD, Columbia University Medical Center, New York, NY, USA
Molecular Diagnostics in the Community Hospital: How to Offer Complete and Up to Date Testing
Overview of Provision and Utilization of Molecular Testing in Community Cancer Centers, Ideally from an Individual Involved in the Association of Community Cancer Centers
Tabetha Sundin, PhD, HCLD (ABB), MB (ASCP)CM, AstraZeneca, Middletown, MD, USA
Guide to Implementing Molecular Testing in a Large Hospital System
Michelle Shiller, DO, AP/CP, MGP, Baylor Scott & White Health, Dallas, TX, USA
Novel Insights into Clonal Hematopoiesis
Link Between Cancer Therapy and Clonal Hematopoiesis
Ahmet Zehir, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Rationale for screening stem cell donors for clonal hematopoiesis
Lukasz Gondek, MD, PhD, Johns Hopkins School of Medicine, Ellicott City, MD, USA
Should stem cell donors be screened for clonal hematopoiesis?
Coleman Lindsley, MD, PhD, Dana-Farber Cancer Institute, Boston, MA, USA
Pharmacogenomic Testing Across Populations
Pharmacogenomics Implementation Across Populations in North America
Deepak Voora, MD, Duke University, Durham, NC, USA
Implementation of Pharmacogenetics in Clinical Care: an EU perspective
Ron HN Van Schaik, PhD, Erasmus MC, Rotterdam, Zuid-Holland, Netherlands
Pharmacogenomics in Pediatrics
Laura B. Ramsey, PhD, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
The Changing Landscape of Reimbursement for Pathology Clinical Consultation and Impact on Interpretation of Tumor Genomics
Coding and Reimbursement for Tumor Profiling Interpretation, Clinical Correlation and Consultation
Samuel K. Caughron, MD, MAWD Pathology Group, Lenexa, KS, USA
Demystifying Molecular Diagnostics Coverage and Reimbursement in Medicare: MolDX
Gabriel Bien-Willner, MD, PhD, Palmetto GBA, TX, USA
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On Demand
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TARGETED TOPICS
Utilization of NGS Testing in Cytopathology Samples
Hamza N. Gokozan, MD, Weill Cornell Medicine, New York, NY, USA
Mitochondrial DNA as Clonal Markers to Infer and Track Clonal Mosaicism
Vijay G. Sankaran, MD, PhD, Boston Children's Hospital/ Harvard Medical School, Boston, MA, USA
Difficult to Sequence Regions in the Genome
Benchmarking variants in challenging medically-relevant genes
Justin M. Zook, PhD, NIST, Gaithersburg, MD, USA
Telomere-to-Telomere Chromosome Assemblies: New Insights Into Genome Biology and Structure
Karen Miga, PhD, University of California, Santa Cruz, CA, USA
Advanced Sequencing Applications in the Public Health Laboratory
Molecular Streptococcus Pneumoniae Serotyping
Sara Vetter, PhD, D(ABMM), Minnesota State Public Health Laboratory, St. Paul, MN, USA
How NGS Is Used for Outbreak Detection
Heather Carleton, CDC, Atlanta, GA, USA
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On Demand
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PLATFORM PRESENTATIONS
Platform Presentations of Selected Abstracts
Abstracts are selected by the Program Committee
Platform Presentations of Selected Genetics Abstracts
G04 - A Comparison of Strategies for the Collection and Use of Phenotypic Information in the North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing 2 (NCGENES 2) Study
Shannon McNulty, University of North Carolina at Chapel Hill, Durham, NC, USA
G28 - Implementing a Genomic Population Health Screening Program in Primary Care: Lessons Learned
Robert Wildin, MD, University of Vermont Larner College of Medicine, Burlington, VT, USA
G01 - A Novel Machine Learning Plus Whole Methylome Approach for the Diagnosis of Germline Disorders
Linda Hasadsri, MD, PhD, Mayo Clinic, Rochester, MN, USA
Platform Presentations of Selected Hematopathology Abstracts
H27 - Comprehensive Genomic Profiling Discovers Recurrent Mutations and Copy Number Alterations of T-cell Large granular Lymphocytic Leukemia
Jinjuan Yao, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA
H19 - Clonal cytogenetic abnormalities in donor-derived cells after sex mismatched allogenic stem cell transplantation
Gokce Toruner, MD, PhD, UT MD Anderson Cancer Center, Houston, TX, USA
H22 - Clinicopathologic Features of Acute Myeloid Leukemia with NUP98 Rearrangement
Maria Magallanes Hoyos, Oregon Health and Science University
H20 - AML with germline DDX41 mutations is a distinct clinicopathologically and molecularly defined entity with a sub-acute course and favorable outcome
Margaret C. Williams, MD, University of Utah/ARUP Labs, Salt Lake City, UT, USA
Platform Presentations of Selected Infectious Diseases Abstracts
ID20 - Development and Six-Month Evaluation of SARS-CoV-2 Wastewater Surveillance in a Low-Prevalence Rural Region (The RECOVER Project)
Diana Toledo, PhD, MS, GSC, The Broad Institute of MIT and Harvard, Cambridge, MA, USA
ID06 - Genetic variation in circulating SARS-CoV-2 is detected by RT-PCR/MALDI-TOF diagnostic targets
Matthew Hernandez, MD, PhD, Icahn School of Medicine at Mount Sinai, New York, NY USA
ID24 - Fragment Analysis for Scalable Detection of SARS-CoV-2 Variants of Concern
Jeffrey SoRelle, MD, UT Southwestern University, Dallas, TX, USA
Platform Presentations of Selected Informatics Abstracts
I04 - CNViz: an R/Shiny Application For Interactive Copy Number Variant Visualization in Cancer
Rebecca Greenblatt, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
I08 - CloneSeer: Sequence Alignment-Based Detection and Quantification of Lymphoma Sub-Clones
Eitan Halper-Stromberg, MD, PhD, Johns Hopkins University, Baltimore, MD, USA
I13 - UNISON: A UNIfied SOmatic CalliNg (UNISON) pipeline for identifying Clonal Hematopoiesis of Indeterminate Potential
Eric Klee, Mayo Clinic, Rochester, MN, USA
I02 - Human Leukocyte Antigen Typing of Patients with Myeloid Malignancies by Whole Genome Sequencing
Andrew Hughes, Washington University School of Medicine, St. Louis, MS, USA
Platform Presentations of Selected Solid Tumors Abstracts
ST71 - Targeted next-generation sequencing of biliary tract specimens from patients with primary sclerosing cholangitis improves the early detection of cholangiocarcinoma
Jeffrey Kleinberger, MD, PhD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
ST08 - PurIST Pancreatic Cancer Classifier: A 16-RNA Expression Signature Array Comparable to RNAseq
Margaret Gulley, MD, University of NC, Chapel Hill, NC, USA
ST74 - Optical genome mapping for the chromosomal characterization of solid tumors
Ravindra Kolhe, MD, PhD, FCAP, Augusta University, Augusta, GA, USA
ST57 - Translating Transcriptome Sequencing into Clinical Diagnostics for Pediatric Solid Tumors
Feng Xu, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA
Platform Presentations of Selected Technical Topics Abstracts
TT34 - Qualitative Detection of EGFR mutations (exons 18–21) in Lung cancer using Idylla Platform
Meenakshi Mehrotra, PhD, Icahn School of Medicine, New York, NY, USA
TT25 - Urine-Based Testing for Mitochondrial Diseases: An Alternative to Invasive Muscle Biopsies?
Taylor Ashworth, MLS(ASCP), Mayo Clinic, Apple Valley, MN, USA
TT12 - Validation of Targeted Next-Generation Sequencing of Cell-Free DNA from Stored Cerebrospinal Fluid Specimens for the Detection of Somatic Variants in Cancer Involving the Leptomeninges
Alexander Neil, MD, PhD, Brigham and Women's Hopsital, Boston, MA, USA
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On Demand
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CASE STUDIES
Case Studies in Genetics
Sebaceous Adenoma of the Penis Suspicious for Muir-Torre Syndrome
Blaire Anderson, Geisel School of Medicine at Dartmouth/Dartmouth Hitchcock Medical Center, Quechee, VT, USA
Molecular Diagnosis of a Patient with a Novel Suspected Hereditary Amyloidosis
Lauren Choate, PhD, Mayo Clinic, Rochester, MN, USA
A case of familial cytopenias and cerebral cavernous malformations presenting with seizures and brain abscesses
Runjun Kumar, MD, PhD, Baylor College of Medicine, Houston, TX, USA
Case Studies in Hematopathology
Molecular and histopathologic findings in a case of large B-cell lymphoma with IRF4 rearrangement
Farah El-Sharkway, MD, Hospital of the University of Pennsylvania, Philadelphia, PA, USA
A Genetically Novel Mantle Cell Lymphoma
Ahmed Lazim, Temple University Hospital, Philadelphia, PA, USA
Incidental discovery of acute myeloid leukemia during liquid biopsy of a lung cancer patient
Dingani Nkosi, PhD, University of Rochester Medical Center, Rochester, NY, USA
Inadvertent allogeneic hematopoietic stem cell transplant from a lung allograft
Laura Schultz-Rogers, PhD, University of North Carolina Chapel Hill Hospital, Chapel Hill, NC, USA
Clinical Whole Genome Sequencing Characterizes an Unusual Case of B-lymphoblastic Leukemia/Lymphoma
Brooj Abro, Washington University in St. Louis, St. Louis, MS, USA
Clonally Related Marginal Zone Lymphoma and Classic Hodgkin Lymphoma: A Rare Case Highlighting the Importance of IGK Rearrangement Testing
Bradley Drumheller, MD, Emory University Hospital, Atlanta, GA, USA
Case Studies in Infectious Diseases
Even if it looks like a ductal and walks like a ductal. . .
Jeremy Adler, University of Chicago, Chicago, IL, USA
Case Studies in Solid Tumors
A rare case of CIC-rearranged sarcoma diagnosed with integrated RNA and DNA sequencing
Annie Garcia, MD, Baylor College of Medicine, Houston, TX, USA
Identification of identical BAP1 mutations in a patient’s peritoneal mesothelioma and mucosal melanoma: A precision medicine case study
Paul Zamiara, MD, Dalhousie University, Halifax, Nova Scotia, Canada
Clonal Evolution of Glioblastoma after Therapy
Tasos Gogakos, Mass General/Brigham Womens, Boston, MA, USA
A case series of FGFR3-KLF15 Fusion in Non-Small Cell Lung Cancer
Parsa Hodjat, Houston Methodist Hospital, Houston, TX, USA
Potentially Targetable FGFR2-INA Fusion in Intraductal Tubulopapillary Neoplasm of Pancreas (ITPN)
Irena Manukyan, Columbia University, New York, NY, USA
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