Detailed Scientific Program

This is the preliminary program. Be sure to check back for the updated program information often!

For details on the Pre-Congress Workshops on May 15, please see HERE.

Thursday, May 16, 2019

10:15 AM – 11:45 AM Advances of Genomic Diagnosis in Hemato-oncology & Solid Tumors
General Session
Session Description: Genomic testing in hematologic neoplasms represents a change in the paradigm in the continuum of patient care including establishment of the diagnosis, prognosis and tailoring therapy. Recent advances in large-scale genomic analysis have led to emerging genomic signatures of most categories of lymphoid and myeloid neoplasms.  High through-put sequencing of the IGH and TCR genes is a highly sensitive method for disease detection, disease monitoring in response to targeted therapies and can assess disease relapse and recurrence.  Genomic analyses also have identified pre-neoplastic conditions, mechanisms of clonal evolution and clonal heterogeneity in lymphoid and myeloid neoplasms. The translation of these emerging data and concepts to the clinical setting will be an exciting area for development for the molecular pathology community and will be addressed in this session.
10:15 AM – 11:00 AM
Presentation 1
Genomics Advances for Diagnosis and Therapy Monitoring of B-cell Lymphoproliferative Disorders
Dan Jones (Columbus, USA)
11:00 AM – 11:45 AM
Presentation 2
Next-Generation Diagnostics for Cancer Care: Expanding the Value of NGS through Novel Algorithms and New Assaya
Ahmet Zehir (New York, USA)
12:00 PM – 1:45 PM Advances in Hemato-oncology
Breakout Session
Session Description: Recent advances in genomic analyses of lymphoid malignancies have led to the concept of genomic basis of mature T-cell lymphoma/leukemias. T-cell lymphomas are typically aggressive and mechanisms underlying pathogenesis were poorly understood. This session will address the discovery work highlighting novel revelations implicating recurrent alterations affecting the mutational activation of signaling pathways critical for T-cell signaling, and deregulation of immune escape in adult T-cell leukemia/lymphoma. Additionally, novel therapies such as chimeric antigen receptor-T immunotherapies for many hematologic neoplasms have revolutionized treatment options and impacted patient outcomes. The scientific basis, successful outcome of clinical trials and future challenges of CAR T-cell therapies will be discussed.
12:00 AM – 12:50 AM
Presentation 1
Genetics of Adult T-Cell Leukemia/Lymphoma
Keisuke Kataoka (Tokyo, Japan)
12:50 AM – 1:40 AM
Presentation 2
CAR-T Immunotherapy in Adult ALL
Yu Hu (Wuhan, China)
12:00 PM – 1:45 PM Advances in Solid Tumor
Breakout Session
12:00 PM – 12:50 PM
Presentation 1
Diagnostic and Therapeutic Implication of Molecular Pathology in Soft Tissue Sarcoma
Yoshinao Oda (Fukuoka, Japan)
12:50 PM – 1:40 PM
Presentation 2
Clinical and Practical Aspects of Melecular Testing in head and Neck Tumors
Jennifer L. Hunt (Little Rock, USA)
12:00 PM – 1:45 PM Cancer Predispositions
Breakout Session
12:00 PM – 12:50 PM
Presentation 1
High, Moderate and Low – Genetic Variation and Breast Cancer Risk
Katherine L. Nathanson (Philadelphia, USA)
12:50 PM – 1:40 PM
Presentation 2
Familial Predisposition to Haematological Malignancies: Diagnoses and Clinical Conundrums
Hamish S. Scott (Adelaide, Australia)
2:45 PM – 4:30 PM Industry Symposia
Industry Symposium
4:30 PM – 5:00 PM Coffee Break (Exhibit Hall)
Coffee Break
5:00 PM – 6:30 PM Advances of Molecular Diagnosis in Infectious Diseases.
Clinical Application of Liquid Biopsy: Current Status and Future
General Session
5:00 PM – 5:45 PM
Presentation 1
TBA
5:45 PM – 6:30 PM
Presentation 2
Nasopharyngeal Cancer Screening Among Asymptomatic Volunteers by Circulating Tumor DNA Analysis
Rossa Chiu (Shatin, Hong Kong)
6:30 PM – 8:00 PM Reception in Exhibit Hall
Reception

Friday, May 17, 2019

8:30 AM – 10:00 AM The ACMG/AMP Standards & Guidelines for Germline Variant Interpretation & Updates
Clinical Implementation of the AMP/ASCO/CAP Standards and Guidelines for Somatic Variant Interpretation and Reporting
General Session
Session Description: In 2015 and 2017, AMP partnered with other stakeholders developed and published the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology and Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists, respectively. This session will discussion the evidence used for classification, interpretation, and reporting of germline and somatic variants, and provide practical examples on how to implement the guidelines for laboratories both currently performing germline and somatic NGS testing and those considering bringing the technology into their laboratories.
8:30 AM – 9:15 AM
Presentation 1
ClinVar/ClinGen
Birgit Funke (Danvers, Boston)
9:15 AM – 10:00 AM
Presentation 2
Clinical Implementation of AMP/ASCO/CAP Guidelines for Somatic Variant Interpretation and Reporting in Cancer NGS Testing
Marilyn M. Li (Philadelphia, USA)
10:00 AM – 10:45 AM Coffee Break & Poster Visits (Odd Poster Numbers)
Coffee Break
10:45 AM – 11:45 AM Abstract Session: Cancer Genomics (Solid Tumor)
Abstract Session
Session Description: Oral Presentations from Abstracts
10:45 AM – 11:00 AM
Presentation 1
Clinical Implication of ctDNA Analysis in Advanced Lung Carcinoma Patients Using Different Technologies: Real-Time PCR and MALDI-TOF
Pierre-Jean Lamy (Montpellier, France)
11:00 AM – 11:15 AM
Presentation 2
Adjusting for Variation in Tumor Mutation Burden Using a Cancer-Specific Threshold in Whole Exome Sequencing
Wei Song (New York, USA)
11:15 AM – 11:30 AM
Presentation 3
Integrated Genomic Profiling of 289 Pediatric Brain Tumors Uncovers Genomic Signatures Significantly Impacting Patient Care
Fumin Lin (Philadelphia, USA)
11:30 AM – 11:45 AM
Presentation 4
Biomarker Analysis on Limited Biopsy Lung Cancer Samples in Tertiary Care Cancer Centre in South India Basavatarakam Indo American Cancer Hospital, Hyderabad, India
Surisetti Sudha Murthy (Hyderabad, India)
10:45 AM – 11:45 AM Abstract Session: Cancer Genomics (Hemato-oncology) 
Abstract Session
Session Description: Oral Presentations from Abstracts
10:45 AM – 11:00 AM
Presentation 1
Validation of Immunohistochemistry by a Monoclonal Antibody CAL2 on Trephine Biopsy for CALR Mutation Detection in Myeloproliferative Neoplasms
Man Kin Ng (Hong Kong)
11:00 AM – 11:15 AM
Presentation 2
Comparison of a 640-Gene Next Generation Sequencing Panel to a Virtual 41-Gene Panel for the Diagnostic Utility in Unexplained Cytopenia
Gang Zheng (Baltimore, USA)
11:15 AM – 11:30 AM
Presentation 3
T-Cell Clonality Testing by Next Generation Sequencing Facilitates the Initial Diagnosis and Disease Monitoring of Cutaneous T-Cell Lymphomas
Jinjuan Yao (New York, USA)
11:30 AM – 11:45 AM
Presentation 4
Clinical Implications of Cytogenetic Heterogeneity in BCR-ABL1 Fusion Positive Adult B Cell Acute Lymphoblastic Leukemia
Xinyan Lu (Chicago, USA)
10:45 AM – 11:45 AM Abstract Session: Constitutional Genetics
Abstract Session
Session Description: Oral Presentations from Abstracts
10:45 AM – 11:00 AM
Presentation 1
Prospective Study to Determine the Spectrum of Mutations among Patients with Multiple Endocrine Neoplasia 1 (MEN-1) and to Identify “At Risk”, First-Degree Relatives
Rekha Pai (Vellore, India)
11:00 AM – 11:15 AM
Presentation 2
Five Year Experience of Clinical Next-Generation Sequencing for Somatic Overgrowth and Related Syndromes: Non-PIK3CA Cumulative Findings
Yang Cao (St. Louis, USA)
11:15 AM – 11:30 AM
Presentation 3
An International Interlaboratory Study of Complex Variant Detection by NGS
Stephen Lincoln (San Francisco, USA)
11:30 AM – 11:45 AM
Presentation 4
High-Risk Cytogenetics in Multiple Myeloma: Further Scrutiny of Deletions within the IGH Gene Region Enhances Risk Stratification
Jennifer N. Sanmann (Omaha, USA)
12:00 PM – 12:45 PM Industry Symposia
Industry Symposia
12:45 PM – 1:45 PM Lunch in the Industrial Exhibition
Lunch Break
1:45 PM – 3:15 PM WES/WGS for New Discovery and Clinician Diagnosis of Genetic Diseases
Cancer Predispositions

General Session
1:45 PM – 2:30 PM
Presentation 1
Genome-wide, Comprehensive Structural Variation Detection Using Multiple Technologies
Charles Lee (Farmington, USA)
2:30 PM – 3:15 PM
Presentation 2
Results on Incorparating Genome-Scale Sequencing into Care of Childhood Cancer Patients
Sharon E. Plon (Houston, USA)
3:15 PM – 3:45 PM Coffee Break (Exhibit Hall)
Coffee Break
3:45 PM – 4:45 PM Advances in Infectious Disease
Breakout Session
3:45 PM – 4:15 PM
Presentation 1
Co-Test of HR-HPV with Cytology in Cervical Smear of Liquid Base Cytology: Experiences in a Beijing Hospital
Lan Chen (Beijing, China)
4:15 PM – 4:45 PM
Presentation 2
Metagenomics-Based Testing in Routine Practice, Are We Ready?
Robert Schlaberg (Salt Lake City, USA)
3:45 PM – 4:45 PM Advances in Constitutional Genetics
Breakout Session
Session Description: Population screening for inherited disorders has been taking place for many years. Screening includes newborns, children and adults. The results of screening individuals (children and adults) for thalassemias in Southern China and implementation of treatment will be discussed. Nextgeneration sequencing adds a new layer of testing for babies with abnormal newborn screening tests. Carriers for pathogenic variants will be able to be distinguished from affected babies with two pathogenic variants in a gene.
3:45 PM – 4:15 PM
Presentation 1
Mutation Characterization and Precise Molecular Diagnosis of Inherited Disorders of Hemoglobin
Xiangmin Xu (Guangzhou, China)
4:15 PM – 4:45 PM
Presentation 2
Newborn Screening to Whole Genome Sequencing
Madhuri Hegde (Waltham, USA)
3:45 PM – 4:45 PM Liquid Biopsy: Clinical Validity and Clinical Utility
Breakout Session
3:45 PM – 4:15 PM
Presentation 1
Use of Circulation Tumor DNA in Patient Management: Data from Lung, Colorectal, Bladder and Breast Cancer
Jimmy Lin (San Carlos, USA)
4:15 PM – 4:45 PM
Presentation 2
Longitudinal Liquid Biopsy in the Lorlatinib Trial for Patients with Refractory/Resistant Aslk-driven Neuroblastoma
Yael P. Mosse (Philadelphia, USA)
5:00 PM – 6:00 PM Roundtable Discussion: Molecular Diagnosis of Infectious Diseases
Roundtable Discussion
Session Description: The entire spectrum of knowledge acquisition to application to molecular diagnostic laboratory testing to clinical implementation is rapidly evolving. Thus, the utilization of molecular diagnostics is dependent on resources for lab implementation, clinical implementation and availability of targeted therapies. These factors contribute to variable utilization in underserved areas. This roundtable session will focus on barriers, potential solutions and opportunities for collaborations to address the discrepancies in the utilization of molecular diagnosis in resource-scarce regions.
5:00 PM – 6:00 PM
Presentation 1
Roundtable Discussion: Molecular Diagnosis of Infectious Diseases
David R. Hillyard, MD (Salt Lake City, USA)
5:00 PM – 6:00 PM Roundtable Discussion: Molecular Diagnosis in Underserved Areas
Roundtable Discussion
5:00 PM – 6:00 PM
Presentation 1
Roundtable Discussion: Molecular Diagnosis in Underserved Areas
Megan S. Lim (Philadelphia, USA)
5:00 PM – 6:00 PM Roundtable Discussion: Implementation of the Germline and Somatic Guidelines
Roundtable Discussion
5:00 PM – 6:00 PM
Presentation 1
Roundtable Discussion: Implementation of the Germline and Somatic Guidelines
Elaine B. Spector (Aurora, USA)

Saturday, May 18, 2019

8:00 AM – 9:00 AM Abstract Session: Infectious Diseases
Abstract Session
Session Description: Oral Presentations from Abstracts
08:00 AM – 08:15 AM
Presentation 1
Comparative Whole-Genome Analysis between Pregnant Women-Colonizing and Neonate-Infecting Group B Streptococcus Isolates
Lijuan Wu (Shenzhen, China)
08:15 AM – 08:30 AM
Presentation 2
Suppressor of Cytokine Signaling (SOCS)-3 Downregulation Is Associated with Increased Proinflammatory Responses in Diabetic Individuals with M. Tuberculosis Infection
Kiran Iqbal (Karachi, Pakistan)
08:30 AM – 08:45 AM
Presentation 3
High Prevalence of NDM-1-Producing Enterobacter Cloacae from Three Tertiary Hospitals in China
Bin Huang (Grangzhou, China)
08:45 AM – 09:00 AM
Presentation 4
Incidental Detection of Malignancies in Metagenomics Cell-Free DNA Testing
Wei Gu (Menlo Park, United States)
8:00 AM – 9:00 AM Abstract Session: Bioinformatics
Abstract Session
Session Description: Oral Presentations from Abstracts
08:00 AM – 08:15 AM
Presentation 1
Identifying True Somatic Variants in Cancer Using Machine Learning
Chao Wu (Philadelphia, USA)
08:15 AM – 08:30 AM
Presentation 2
Development and Clinical Validation of a Bioinformatics Pipeline for CNV Detection on Cancer NGS Panels
Kajia Cao (Philadelphia, USA)
08:30 AM – 08:45 AM
Presentation 3
Pan-Cancer Repository of Validated Natural and Cryptic mRNA Splicing Mutations
Peter Rogan (London, Canada)
08:45 AM – 09:00 AM
Presentation 4
Error Rate Normalization to Establish Position-Specific Limits of Detection in Next Generation Sequencing Assays
Julian D’Angelo (San Diego, USA)
8:00 AM – 9:00 AM Abstract Session: Technology and Education
Abstract Session
Session Description: Oral Presentations from Abstracts
08:00 AM – 08:15 AM
Presentation 1
The Clinical Utility of Tumour Mutational Signatures for Identifying Hereditary Colorectal Cancer and Polyposis Syndromes
Daniel Buchanan (Melbourne, Australia)
08:15 AM – 08:30 AM
Presentation 2
A Noise-Cancelling Method Based on Information Theory for ctDNA Variant Calling
Hao Chen (Shenzhen, China)
08:30 AM – 08:45 AM
Presentation 3
Application of a Multiplex PCR to Detect Intestinal Parasite Infections in Antenatal Anemia
Vivek Gupta (Wardha, India)
08:45 AM – 09:00 AM
Presentation 4
Oncologists’ Review of ctDNA EGFR Mutation Testing Reports
Zandra Deans (Edinburgh, United Kingdom)
9:00 AM – 10:00 AM Practical Clinical Bioinformatics: From Automation to Validation 
Breakout Session
Session Description: This session will discuss the implementation of bioinformatics tools and pipelines for clinical testing. This session will highlight a method for automating analysis by applying deep learning to interpret digital histopathological images and the construction of a bioinformatics pipeline to process Illumina-based NGS assay. A case study for the validation of an NGS-based assay for a myeloid neoplasm test in accordance with AMP/CAP bioinformatics validation published guidelines will be presented.
9:00 AM – 9:30 AM
Presentation 1
Developing Large Scale Histopathological Image Retrieval System Using Deep Texture Representations
Shumpei Ishikawa (Tokyo, Japan)
9:30 AM – 10:00 AM
Presentation 2
Best Practices for Bioinformatics Pipeline Validation: The AMP/CAP Guidelines With A Clinical Implementation Example
Somak Roy (Pittsburgh, USA)
9:00 AM – 10:00 AM Tumor Mutational Burden
Breakout Session
9:00 AM – 9:30 AM
Presentation 1
Timing and Signatures of Hypermutant Cancer
Adam Shlien (Toronto, Ontario)
9:30 AM – 10:00 AM
Presentation 2
Genomic and Molecular Landscape of DNA Damage Repair Deficiency
David Wheeler (Houston, USA)
9:00 AM – 10:00 AM Path Education
Breakout Session
9:00 AM – 9:30 AM
Presentation 1
Educational Program for Genomic Pathology at JSP
Eiichi Morii (Osaka, Japan)
9:30 AM – 10:00 AM
Presentation 2
Quality Assurance in Molecular Testing: Evidencing the Global Quality to Next Generation Sequencing
Simon Patton (Manchester, United Kingdom)
10:00 AM – 10:45 AM Visit Posters and Exhibit (Even-numbered Posters Attended)
Coffee Break
10:45 AM – 11:30 AM Industry Symposia
Industry Symposia
11:45 AM – 1:15 PM Big Data/Data Sharing/Artificial Intelligence
New Technologies: CRISPR

General Session
11:45 AM – 12:30 PM
Presentation 1
Personal Big Data and Distributed AI: Genomes and Health Records
Ju Han Kim (Seoul, South Korea)
12:30 PM – 1:15 PM
Presentation 2
Nucleic Acid Detection with CRISPR-Cas13
Omar Abudayyeh (Cambridge, USA)
1:15 PM – 1:30 PM Poster Awards Acknowledgements / Closing Remarks
1:30 PM – 2:30 PM Lunch in the Industrial Exhibition
Lunch Break
2:30 PM – 3:30 PM Storing, Processing, and Sharing Big Data
Session Description: This session will touch on emerging technologies and infrastructure for working with big data, from data aggregation and storage to analysis and sharing. Topics will include the use of deep learning and artificial intelligence to leverage large data sets and cloud-based platforms to centralize data and workflows for data democratization.
2:30 PM – 3:00 PM
Presentation 1
Informatics Ecosystem Behind Data Consolidation for the Gabrielle Miller Kid’s First Pediatric Data Resource Program
Adam Resnick (Philadelphia, USA)
3:00 PM – 3:30 PM
Presentation 2
TBA
Gil Alterovitz (Boston, USA)
2:30 PM – 3:30 PM New Technology
Breakout Session
2:30 PM – 3:30 PM
Presentation 1
Epitobe-Based High Resolution Multiplex Serology fpr Infectious Disease Investigation
Linfa (Lin-Fa) Wang (Singapore)
2:30 PM – 3:30 PM Population Genetics
Breakout Session
2:30 PM – 3:30 PM
Presentation 1
Chinese Gene Mutation Database from 20K Chinese Genomes for Disease Diagnostics
Jonathan Liu (Pennsylvania, USA & Beijing, China)