Molecular Methodologies & Technologies

Thursday, November 7, 2019


10:00am - 11:30am


Criminal Investigations & Forensics

Rapid DNA: From Research to Field

Amanda Sozer, PhD, SNA International, Washington, DC, USA

Forensic DNA Testing at the Crossroads of Science, Law, and Policy

Frederick Bieber, PhD, Harvard Medical School, Boston, MA, USA

Basics of Genetic Genealogy and Its Impact on Forensic Investigation

Howard Cash, Gene Codes Corporation, Ann Arbor, MI, USA

CRISPR-CAS: Applications for Diagnostics & Therapeutics of Human Diseases

Getting More from your MiSeq with DASH and FLASH

Emily Crawford, PhD, Chan Zuckerberg Biohub, San Francisco, CA USA

Assessing Unintended Off-Target Mutations Caused by Cas9 and Other Gene Editing Enzymes

Vikram Pattanayak, MD, PhD, Massachusetts General Hospital, Boston, MA, USA

12:45pm - 2:00pm


Diagnostic Stewardship for Molecular Testing

Kimberle Chapin, MD, Brown Biology and Medicine, Providence, RI, USA

The Art of Navigating Molecular Infectious Disease Test Results: From Ordering To Application In the Clinical Setting

Sejal Morjaria, Memorial Sloan Kettering Cancer Center, New York, NY, USA

Biobanking and 3D-Organoid Technology

Perspective on Establishing a Biorepository for Clinical and Research Use

Kristy Crooks, PhD, University of Colorado, Aurora, CO, USA

Profiling the DNA Damage Repair Capacity of High Grade Serous Ovarian Tumors using Patient-Derived Organoids

Sarah Hill, MD, PhD, Dana-Farber Cancer Institute, Boston, MA, USA



Friday, November 8, 2019


8:15am - 9:45am


Emerging Tech for Circulating Tumor Cells, Beyond Counting/ctDNA Alternative Fluids

Advances in Liquid Biopsy: Isolation, Analysis and Expansion of CTCs

Sunitha Nagrath, PhD, University of Michigan, Ann Arbor, MI, USA

Microfluidic Platforms for the Efficient Isolation of Circulating Leukemia Cells and Circulating Plasma Cells

Steven A. Soper, PhD, The University of Kansas, Lawrence, KS, USA

10:45am - 12:15pm


Updates on Emerging Technologies

Nanopore Sequencing Comes of Age

Miten Jain, PhD, University of California Santa Cruz, Santa Cruz, CA, USA

Extreme Molecular Diagnostics

Carl Wittwer, MD, PhD, University of Utah, Salt Lake City, UT, USA



Saturday, November 9, 2019


7:00am - 8:00am


Methylation Analysis Technologies

DNA Methylation and Machine Learning in Molecular Pathology for Diagnosis and Clinical Management

Matija Snuderl, MD, NYU Langone Medical Center, New York, NY, USA

Oncogene Activation by Pan-Cancer DNA Hypermethylation

Wei Li, PhD, Baylor College of Medicine, Houston, TX, USA

Liquid Biopsy in Infection & Cancer

Opportunities and Challenges of Fungal Cell-Free DNA Testing for Diagnosis of Invasive Fungal Infection

Niaz Banaei, MD, Stanford University, Stanford, CA, USA

Detecting HPV Circulating Tumor DNA by Liquid Biopsy

Daniel Higginson, MD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

10:45am - 12:15pm


Whole Genome Sequencing for Bacterial Strain Typing & Genomic Surveillance

Real-time Clinical Applications for Whole Genome Sequencing of Bacteria

Brad Cookson,MD, PhD, University of Washington, Seattle, WA, USA

Bacterial Strain Typing in the Age of Whole Genome Sequencing: Promises and Pitfalls

Richard Goering, PhD, Creighton University School of Medicine, Omaha, NE, USA

1:30pm - 2:45pm


Platform Presentations of Selected Abstracts

Abstracts are selected by the Program Committee

Platform Presentations of Selected Genetics Abstracts

G008 - Germline RAD51B loss-of-function variants confer susceptibility to hereditary breast and ovarian cancers and result in

Diana Mandelker, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

G014 - A framework of critical considerations in interpretation of NGS based tests for germline disorders - On Behalf of CLSI Document Development Committee (DDC) on Nucleic Acid Sequencing (MM09)

Avni Santani, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA

G023 - Integrated Germline and Somatic Analysis Identifies Actionable Cancer Predisposing Germline Mutations in 9,734 Patients with Advanced Cancers

Liying Zhang, MD, PhD, Memorial Slone Kettering Cancer Center, New York, NY, USA

G036 - Significance Associated with Phenotype (SAP) Score – A Method for Ranking Genes and Genomic Regions Based on Sample Phenotype

Jianling Ji, MD, MS, Children's Hospital of Los Angeles, South Pasadena, CA, USA

G010 - A Method to Missense Madness: Improving Clinical Variant Interpretation with a Pathway-Focused Functional Assay

Sarah Brnich, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

Platform Presentations of Selected Infectious Diseases Abstracts

ID019 - Mycoplasma genitalium assay results from high and low risk populations: implications for sexually transmitted infection panel menu

Kimberle Chapin, MD, Brown Biology and Medicine, Providence, RI, USA

ID018 - Cell-free RNA is More Sensitive than DNA for the Detection of Pediatric Bacterial Sepsis via Shotgun Metagenomic Sequencing

Caitlin Dougherty, The Children's Hospital of Philadelphia, Philadelphia, PA, USA

ID020 - Clinical and Histologic Features of Patients Tested Using the BioFire FilmArray Gastrointestinal Panel

Jonathan Mowers, MD, PhD, Michigan Medicine, Ann Arbor, MI, USA

ID043 - Investigation of amplicon sequencing technology in diagnosis of drug resistant tuberculosis by testing FFPE specimens

Nanying Che, PhD, Departement of Pathology, Beijing Chest Hospitial, Medical Capital University, Beijing, China

ID003 - Microbial Cell-free DNA Sequencing for Multiplexed Detection and Quantitation of Cytomegalovirus, Epstein-Barr Virus, and BK Virus

Timothy Blauwkamp, Karius, Inc., Iowa City, CA, USA

Platform Presentations of Selected Informatics Abstracts

I031 - Platform-agnostic deployment of bioinformatics pipelines for clinical NGS assays using containers, infrastructure orchestration, and workflow manager

Sabah Kadri, PhD, Lurie Children's Hospital of Chicago, Chicago, IL, USA

I013 - Benchmarks for Difficult-to-Sequence Genes and Structural Variants

Justin Zook, PhD, National Inst of Standards & Tech, Gaithersburg, MD, USA

I040 - Machine Learning Applications for Patient Testing: Computational Assessment of MSI by NGS in the Clinical Laboratory

Gregory Omerza, PhD, The Jackson Laboratory, Farmington, CT, USA

I020 - Mixed Reality for a Precision Medicine Laboratory: the Future is Now!

Andrea Sboner, PhD, Weill Cornell Medicine, New York, NY, USA

I004 - Impact of Next Generation Sequencing Panel Composition on Tumor Mutation Burden Calculation – In Silico Comparison of Frequently Utilized Panels

Nicholas Bevins, MD, PhD, University of California at San Diego, San Diego, CA, USA

Platform Presentations of Selected Technical Topics Abstracts

TT011 - A Comprehensive Assessment of onco-panel sequencing across multiple laboratories and technologies

Joshua Xu

TT066 - Variants Reported by Tumor-Only Clinical Oncology NGS Testing Are Frequently Found in the Germline of Pediatric Patients

Azhar Saeed, MD, MSc, University of Kansas Medical Center, Kansas City, KS, USA

TT071 - EXaCT-2: Augmented Whole Exome Sequencing Optimized for Clinical Testing in Oncology

Duane Hassane, PhD, Weill Cornell Medicine, New York, NY, USA

TT072 - Dissimilarity score (DisScore): identifying potential discordance between anatomic pathology and mutation landscape in the evaluation of clinical sequencing as part of a molecular tumor board

Grzegorz Gurda, MD, PhD, Gundersen Health System, La Crosse, WI, USA

TT055 - Digital Methylation Specific Multiplex Ligation-Dependent Probe Amplification: A novel MLPA based technique for assessing promoter methylation status in cancer

Jan Smout, MSc, MRC Holland, Amsterdam, Netherlands 

The Future of the AMP v. Myriad Decision: Exploring Potential Impacts on Multigene Panel Testing and Patient Care

(Sponsored by the AMPProfessional Relations Committee)

Panel Discussion

Charles Duan, JD, The R Street Institute, Washington, DC, USA
Robert Nussbaum, MD, Invitae, San Francisco, CA, USA???????
Sandra Park, JD, American Civil Liberties Union, New York, NY, USA
Hans Sauer, JD, Biotechnology Innovation Organization, Washington, DC, USA???????