The AMP 2016 Annual Meeting (November 10-12, 2016, Charlotte, North Carolina) showcased research in the latest advances in molecular medicine with the goal of enabling the highest quality health care.


The purchase of this product provides you with downloadable PDF slides of many of the AMP 2016 Annual Meeting presentations. See the "topics" tab for a list of all the presentations with slides available.


No digital files may be reproduced or transmitted in any form, by any means, electronic or mechanical. By purchasing a product, you agree to not share any of the course materials, including videos, downloadable slide presentations, outlines, manuscripts, etc. without explicit and written permission from AMP.

Course Information
Course Date:
November 10, 2016
Click on a topic name to see details and purchase options.
Thursday November 10, 2016

Development of Reference Materials for Proficiency Testing and Quality Assurance
Lisa V. Kalman, PhD, Centers for Disease Control and Prevention, Atlanta, GA, USA

External Proficiency Assessment of Prenatal Cell Free (cf)DNA Testing for Aneuploidy
Glenn E. Palomaki, PhD, Women & Infants Hospital, Providence, RI, USA

Speaker Information
Mark Routbort MD, PhD  [ view bio ]
Aleksandar Milosavljevic PhD  [ view bio ]

The Promise and Perils of Using Cloud-Based Informatics Solutions for Human Genomic Data Analysis and Sharing
Alexis B. Carter, MD, Children's Healthcare of Atlanta, Atlanta, GA, USA

Speaker Information
Mariangela Russo PhD  [ view bio ]

ALK Expression in a Non-small Cell Lung Cancer Not Associated with ALK Rearrangement by FISH or by Targeted NGS-based Fusion Assay
Patrick Mann, MD, University of Colorado Hospital, Aurora, CO, USA

ALK-rearranged Adenocarcinoma with Transformation to High Grade Neuroendocrine Carcinoma at a Metastatic Site Showing Retained ALK Rearrangement
Jill Miller, MD, University of Vermont Medical Center, Burlington, VT, USA

Next-Generation Sequencing Panels Aid in the Diagnosis of Rare Collision Tumors
Jonas J. Heymann, MD, New York-Presbyterian Hospital-Columbia University Medical Center, New York, NY, USA

Identification of a Silent EGFR Mutation Leading to Allele Dropout in EGFR p.L858R Genotyping
Helio A. Costa, PhD, Stanford University, Stanford,CA, USA


Speaker Information
Christina Lockwood PhD  [ view bio ]
Helio A. Costa PhD  [ view bio ]
Maria E. Arcila MD  [ view bio ]
Jonas J. Heymann MD  [ view bio ]

5q Microdeletion Identified via Microarray Analysis Allows for Targeted Therapy in B-Lymphoblastic Leukemia
Kendall Brewer, MD, Medical University of South Carolina, Charleston, SC, USA

The Use of Next-Generation Sequencing (NGS) to Identify a Case of Clonal Cytopenias of Undetermined Significance (CCUS)
Meghan Riley, MD, Washington University, St. Louis, MO, USA

Donor-derived Clonal Hematopoiesis in an Acute Myeloid Leukemia (AML) Patient with History of Sex-mismatched Peripheral Blood Stem Cell Transplantation
Alissa Minkovsky, MD, PhD, Brigham and Women's Hospital, Boston, MA, USA

A Case of Undiagnosed Diamond Blackfan Anemia
Tripti Kumar, DO, Beaumont Health System, Royal Oak, MI, USA


Speaker Information
Ioannis Anagnostopoulos MD, PhD  [ view bio ]
Tripti Kumar DO  [ view bio ]
Manja Meggendorfer MD, MBA  [ view bio ]
Alissa Minkovsky MD, PhD  [ view bio ]

Culture Negative Endocarditis Due to Tropheryma whipplei
Catherine Stefaniuk, DO, Case Western Reserve University, University Hospitals - Cleveland Medical Center

Histopathologic Findings and the Diagnosis of CNS Tropheryma whipplei on Paraffinembedded Tissue
Andrew Bryan, MD, PhD, University of Washington, Seattle, WA, USA

Speaker Information
Melissa B. Miller PhD, D(ABMM)  [ view bio ]
Albrecht Stenzinger MD  [ view bio ]

Opening Remarks

Victoria M. Pratt, PhD, Indiana University Medical Center, Indianapolis, IN, USA and 2016 Program Chair

Speaker Information
Klaus Pantel MD  [ view bio ]

Secrets of the Human Genome: The 35-year Journey of Genomic Medicine
Eric S. Lander, PhD, Broad Institute of Harvard and MIT, Cambridge, MA, USA

Speaker Information
Peter J. Wild MD  [ view bio ]

Translating a Trillion Points of Data into Therapies, Diagnostics, and New Insights into Disease
Atul Butte, MD, PhD, University of California, San Francisco, San Francisco, CA, USA

Clinical Informatics
Christopher G. Chute, MD, DrPH, Johns Hopkins University, Baltimore, MD, USA

Speaker Information
Stephan Beck PhD, FMedSci  [ view bio ]
Janis M. Taube MD, MSc  [ view bio ]

Analysis of Immunoglobulin Genetics
Scott D. Boyd, MD, PhD, Stanford University, Stanford, CA, USA

Learning to Read the Adaptive Immune Repertoire
Harlan Robins, PhD, Fred Hutchinson Cancer Research Center, Seattle, WA, USA


Speaker Information
Axel zur Hausen PhD  [ view bio ]
Magnus von Knebel Doeberitz MD  [ view bio ]

Genetic Testing Utilization Management: The DHMC Experience
Mary Beth P. Dinulos, MD, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

Development of a Multifaceted Laboratory Utilization Program
Jeffrey S. Warren, MD, University of Michigan, Ann Arbor, MI, USA

Speaker Information
Bernhard Küster PhD  [ view bio ]
Haroun N. Shah PhD  [ view bio ]

Principles of Molecular Assay Validation
Margaret L. Gulley, MD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

Regulation of Laboratory Developed Tests
Speaker TBD

Speaker Information
James Versalovic MD, PhD  [ view bio ]

HLA and Pharmacogenetics
Maria P. Bettinotti, PhD, Johns Hopkins University, Baltimore, MD, USA

The Clinical Pharmacogenetics Implementation Consortium: Incorporating Pharmacogenetics into Clinical Practice
Kelly E. Caudle, PharmD, PhD, St. Jude Children's Research Hospital, Memphis, TN, USA

Speaker Information
Rossa W.K. Chiu MBBS, PhD  [ view bio ]
Per Guldberg PhD  [ view bio ]

Clonal Hematopoiesis of Indeterminate Potential
Benjamin Ebert, MD, PhD Brigham and Women's Hospital, Boston, MA, USA

CHIP, ICUS, MDS: A Clinical Perspective
David P. Steensma, MD, Dana-Farber Cancer Institute, Boston, MA, USA

Speaker Information
Manfred Dietel  [ view bio ]
Simon Patton PhD  [ view bio ]

Testing Models for Clostridium difficile Infection Used in the UK
Mark Wilcox, MD, FRCPath, Leads Teaching Hospital & University of Leeds, Leeds, West Yorkshire, UK

HPV Primary Screening: Challenges of Application and Implementation - and Priorities for Research
Kate Cuschieri, BSc, PhD, NHS Lothian, Edinburgh, United Kingdom

Speaker Information
Somak Roy MD  [ view bio ]
Avni B. Santani PhD  [ view bio ]

G30 - ROH-Associated UPD In Mosaic Trisomy Cases Occurs Infrequently and Detection Is Likely Influenced By Positive Selection Against the Trisomic Cell Line
Peter R. Papenhausen, PhD, Laboratory Corporation of America, Center for Molecular and Biological Pathology, Research Triangle Park, NC, USA

G40 - Adapting the ACMG/AMP Variant Classification Guidelines for Inherited Cardiomyopathy: A Pilot Study of Clingen’s International Expert Working Group
Jillian Buchan, PhD, Stanford University School of Medicine, Palo Alto, CA, USA

G48 - Carrier Screening Using a Genomic Approach: Future Directions for Clinical Laboratory Testing?
Sumit Punj, PhD, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR, USA

G52 - What Have Public Databases Taught Us About Variant Classification? The Example of BRCA1 And BRCA2
Stephen E. Lincoln, Invitae, San Francisco, CA, USA


Speaker Information
Jillian Buchan PhD  [ view bio ]
Stephen E. Lincoln  [ view bio ]
Peter R. Papenhausen PhD  [ view bio ]
Sumit Punj PhD  [ view bio ]
Friday December 9, 2016

Liquid Biopsy
Michael R. Speicher, MD Medical University of Graz, Graz, Austria

ctDNA Analysis
Maximillian Diehn,MD, PhD, Stanford University, Stanford, CA, USA

Speaker Information
Andreas von Deimling MD  [ view bio ]
Neal I. Lindeman MD  [ view bio ]
Friday November 11, 2016

Streamlining Big Data Analysis for Personalized Genomics: A Genomics Laboratory Approach
Lora J. H. Bean, PhD, Emory University, Atlanta, GA, USA

Rare Variants and Alternate Splice Prediction: Tools from GT to AG
Brian H. Shirts, MD, PhD, University of Washington, Seattle, WA, USA

Speaker Information
Dieter Beule PhD  [ view bio ]
Alexis B. Carter MD, FCAP, FASCP  [ view bio ]

Biomarker Tests for Molecularly Targeted Therapies: Am Institute of Medicine Report
Debra G.B. Leonard, MD, PhD, University of Vermont Medical Center, Burlington, VT, USA

IOM Report on Biomarkers
Robert L. Nussbaum, MD, Invitae, Inc., San Francisco, CA, USA

Speaker Information
Aik Choon Tan PhD  [ view bio ]
Stephen E. Lincoln  [ view bio ]

Overview of PAMA: What Is It and Why Is It Important for You?
Samuel K. Caughron, MD, MAWD Pathology Group, North Kansas City, MO, and EAC Chair

PAMA Data Collection and Reporting Requirements
Federico A. Monzon, MD, Castle Biosciences, Friendswood, TX, and President-Elect

Operationalizing PAMA Data Collection and Reporting at Your Institution
Roger D. Klein, MD, JD, The Cleveland Clinic Foundation, Cleveland, OH, USA and PRC Chair

Speaker Information
Samuel K. Caughron MD  [ view bio ]
Roger D. Klein MD, JD  [ view bio ]
Federico A. Monzon MD  [ view bio ]

Acute Myeloid Leukemia with Exon 12 NPM1 Mutation and a Somatic Mutation in the Poly-T Sequences: A Possible Pitfall
Pawel Mroz, MD, PhD, University of Michigan, Ann Arbor, MI, USA

GLIOSEQ Targeted Next-Generation Sequencing Panel Provides Clinically Relevant Profiling of a Challenging Brain Tumor: A Proof-of-Concept Case
Soufiane El Hallani, MD, PhD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA

Mammary Analog Secretory Carcinoma (MASC) of the Thyroid Gland: A Primary Thyroid Adenocarcinoma Harboring ETV6-NTRK3 Fusion
Deepu Alex, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

Re-classification of a Salivary Gland Neoplasm by a Next Generation Sequencing Gene Fusion Assay
Daniel Xia, MD, Massachusetts General Hospital,Boston, MA, USA


Speaker Information
Deepu Alex MD, PhD  [ view bio ]
Soufiane El Hallani MD, PhD  [ view bio ]
Pawel Mroz MD, PhD  [ view bio ]
Daniel Xia MD  [ view bio ]

Placental Microbiome and Human Pregnancy
Indira U. Mysorekar, PhD, Washington University in St. Louis, St. Louis, MO, USA

The Microbiome of Cystic Fibrosis
John J. LiPuma, MD, University of Michigan Medical School, Ann Arbor, MI, USA

Speaker Information
John J. LiPuma MD  [ view bio ]
Indira U. Mysorekar PhD  [ view bio ]

H06 - The Utility of Next-Generation Sequencing in the Diagnosis of Myelodysplastic Syndrome
Adrian H. Box, MD, PhD, Emory University School of Medicine, Atlanta, Georgia, USA

H26 - Mutational Shift in Acute Myeloid Leukemia (AML) Relative to Therapy and Disease Progression
Priya D. Velu, MD, PhD, University of Pennsylvania, Philadelphia, PA, USA

H28 - Comprehensive Detection of Balanced Translocations in B-Cell Lymphoproliferative Disorders by Massively Parallel Sequencing
Philippe Szankasi, PhD, ARUP Laboratories, Salt Lake City, UT, USA

H52 - A Targeted Next-generation DNA Sequencing Panel Detects Novel Rearrangements in Hematopoietic Malignancies
Daimon P. Simmons, MD, PhD, Brigham and Women’s Hospital, Boston, MA, USA



Speaker Information
Adrian H. Box MD, PhD  [ view bio ]
Daimon P. Simmons MD, PhD  [ view bio ]
Philippe Szankasi PhD  [ view bio ]
Priya D. Velu MD, PhD  [ view bio ]

ID04 - Hepatitis C Virus Genotyping of Organ Donor Samples to Aid in Transplantation of HCV-positive Organs
Caren Gentile, MS, Hospital of the University of Pennsylvania, Philadelphia, PA, USA

ID10 - A Metagenomic Investigation of Microbiota of Healthy Trachea
Young Jin Kim, MD, PhD, Kyung Hee University Hospital, Seoul, Korea

ID42 - Genomics for Herpes Simplex Virus 2: Transmission, Recombination, and Antiviral Resistance
Alex Greninger, MD, PhD, University of Washington, Seattle, WA, USA

ID44 - A Laboratory-Developed Metagenomic NGS Assay for Pathogen Detection in CSF Specimens
Samia Naccache, PhD, University of California San Francisco, San Francisco, CA, USA


Speaker Information
Caren Gentile MS  [ view bio ]
Alex Greninger MD, PhD  [ view bio ]
Young Jin Kim MD, PhD  [ view bio ]
Samia Naccache PhD  [ view bio ]
Speaker Information
Zachary Abrams PhD  [ view bio ]
Dumitru Brinza PhD  [ view bio ]
Sabah Kadri PhD  [ view bio ]
Chao Wu PhD  [ view bio ]

S42 - Evaluation of a Panel of 7 DNA Methylation Biomarkers to Distinguish between Histological Subtypes of Ovarian and Endometrial Carcinomas
Michaela Campan, PhD, University of Southern California, Los Angeles, CA, USA

S50 - Clinical Utility of Whole Transcriptome (RNA-seq) Analysis for Detection of Fusions and Gene Expression in Thyroid FNA and Fixed Tissue Samples
Marina N. Nikiforova, MD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA

S90 - Study of Pre-analytic Parameters for Standardization of Cell-Free DNA Isolation from Plasma in a CLIA-approved Molecular Diagnostics Laboratory
Meenakshi Mehrotra, PhD, The University of Texas MD Anderson Cancer Center, Houston , TX, USA

S118 - Clinical Validation of Plasma Cell Free DNA Mutation Detection in Patients with EGFR-Mutated Lung Cancer
Lynette M. Sholl, MD, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA

Speaker Information
Michaela Campan PhD  [ view bio ]
Meenakshi Mehrotra PhD  [ view bio ]
Marina N. Nikiforova MD  [ view bio ]
Lynette M. Sholl MD  [ view bio ]

Precision Diagnosis for Precision Medicine: Case Studies in Knowledge Visualization and Decision Support
Mark S. Boguski, MD, PhD, Precision Medicine Network, Boston, MA, USA

Watson Genomics: Moving Forward on Personalized Medicine
Filippo Utro, PhD, IBM T.J. Watson Research Center, Yorktown Heights, NY, USA

Speaker Information
Mark S. Boguski MD, PhD  [ view bio ]
Filippo Utro PhD  [ view bio ]

Molecular Classification of Glioblastoma and the Implication for Therapy
Kenneth Aldape, MD, University Health Network, Toronto, Ontario, Canada

Emerging Immunologic Biomarkers: PD-L1 and Beyond
Janis M. Taube, MD, MSc, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Speaker Information
Kenneth Aldape MD  [ view bio ]
Janis M. Taube MD, MSc  [ view bio ]

Immune Checkpoint Blockade in Lymphoma
Stephen M. Ansell, MD, PhD, Mayo Clinic, Rochester, MN, USA

Personal Tumor Neoantigens: Discovery and Immunotherapeutic Targeting
Catherine J. Wu, MD, Dana-Farber Cancer Institute, Boston, MA, USA

Speaker Information
Stephen M. Ansell MD, PhD  [ view bio ]
Catherine J. Wu MD  [ view bio ]
Saturday November 12, 2016

Idylla™, A New "clinical sample" in - "qPCR-based" Out Molecular Diagnostic Platform
Rudi Pauwels, Biocartis, Mechelen, Belgium

Next Generation POC Molecular Dx
Kyle Armantrout, Tetracore, Inc., Rockville, MD, USA

Using Long Read Sequencing as a Tool to Examine Host-Pathogen Relationships
Melissa Laird Smith, PhD, Icahn School of Medicine at Mount Sinai, New York, New York, USA

Speaker Information
Kyle Armantrout  [ view bio ]
Rudi Pauwels  [ view bio ]
Melissa Laird Smith PhD  [ view bio ]

TT06 - The Use of Biosynthetic Controls as Performance Standards for NGS Assays of Somatic Tumors: A Multi-laboratory Study
Sophie J. Deharvengt, PhD, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

TT28 - Microfluidic Seperation and Detection of Circulating Tumor Cells from Blood Samples
Jin-Yeong Han, MD, PhD, Dong-A University College of Medicine, Busan, South Korea

TT30 - Detection of EGFR Mutations in ctDNA by PNA Clamping-assisted Fluorescence Melting Curve Analysis
Hyunsun Kim, PANAGENE Inc., Seoul, South Korea

TT48 - Automation of NGS Workflow for Processing of High Sample Volume in a Clinical Laboratory
Abigail Wald, PhD, University of Pittsburgh Medical
Center, Pittsburgh, PA, USA

Speaker Information
Sophie J. Deharvengt PhD  [ view bio ]
Jin-Yeong Han MD, PhD  [ view bio ]
Hyunsun Kim  [ view bio ]
Abigail Wald PhD  [ view bio ]

Compound Melanocytic Nevus and Rhadomyosarcoma in Setting of HRAS Mutation.
Paul Lee, MD, PhD, Washington University, St. Louis, MO, USA

Research Whole Exome Sequencing Identifies a Genetic Diagnosis of Neuronal Ceroid Lipofuscinosis Type 6 after a Panel Test Miss
Nicole J. Boczek, PhD, Mayo Clinic, Rochester, MN, USA

A Hematopoietic Chimera Case Identified by Chromosomal Microarray
Yang Cao, PhD, Mayo Clinic, Rochester, MN, USA

Maternally Inherited 133 kb Deletion of 14q32 Causing a Paternal UPD14 Phenotype (Kagami- Ogata Syndrome)
Hou-Sung Jung, PhD, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA


Speaker Information
Nicole J. Boczek PhD  [ view bio ]
Yang Cao PhD  [ view bio ]
Hou-Sung Jung PhD  [ view bio ]
Paul Lee MD, PhD  [ view bio ]

Matching Drugs to Actionable Targets
Lillian L. Siu, MD, Princess Margaret Cancer Centre, Toronto, Ontario, Canada

Molecular Harbingers of Prostate Cancer Drug Resistance
Mark A. Rubin, MD, Weill Cornell Medicine, New York, NY, USA

Speaker Information
Mark A. Rubin MD  [ view bio ]
Lillian L. Siu MD  [ view bio ]

Comprehensive Cancer Genomic Profiling by Tumor-Only Testing
Garrett Michael Frampton, PhD, Foundation Medicine, Cambridge, MA, USA

Tumor-Normal Somatic Sequencing
Victoria M. Raymond, MS, Trovagene, Inc., San Diego, CA, USA

Benefits of Returning Germline Cancer Susceptibility Results
Sharon E. Plon, MD, PhD, Baylor College of Medicine, Houston, TX, USA


Speaker Information
Garrett Michael Frampton PhD  [ view bio ]
Sharon E. Plon MD, PhD  [ view bio ]
Victoria M. Raymond MS  [ view bio ]

Precision Diagnosis Is a Team Sport
Barbara A. Zehnbauer, PhD, Emory University, Atlanta, GA, USA

QMS (Combining Lean and Six Sigma)
John Q. Miller, Quest Diagnostics, Dallas, TX, USA

Speaker Information
John Q. Miller  [ view bio ]
Barbara A. Zehnbauer PhD  [ view bio ]

Overview of NGS Technology
Benjamin A. Pinsky, MD, PhD, Stanford University School of Medicine, Stanford, CA, USA

Unbiased Detection of Bacterial Pathogens Directly From Specimens by Next-Generation Sequencing in the Diagnostic Laboratory
Robert Schlaberg, MD, Dr. med., MPH, University of Utah, Salt Lake City, UT, USA


Speaker Information
Benjamin A. Pinsky MD, PhD  [ view bio ]
Robert Schlaberg MD, MPH  [ view bio ]

History of the First Universal Molecular Carrier Screen: Lessons for Genomic Medicine
Wayne W. Grody, MD, PhD, UCLA School of Medicine, Los Angeles, CA, USA

CF Carrier Screening
Garry Cutting, MD, Johns Hopkins School of Medicine, Baltimore, MD, USA


Speaker Information
Garry Cutting MD  [ view bio ]
Wayne W. Grody MD, PhD  [ view bio ]

AMP vs. Myriad: 3 Years Later
Roger D. Klein, MD, JD, Cleveland Clinic, Cleveland, OH, USA
Timothy Stenzel, MD, PhD, Invivoscribe, San Diego, CA, USA

Speaker Information
Roger D. Klein MD, JD  [ view bio ]
Timothy Stenzel MD, PhD  [ view bio ]

Epidemiology and Preparations for the Emergence of Zika Virus
Anna Likos MD, MPH, Florida Department of Health, Division of Disease Control, Tallahassee, Florida, USA

Laboratory Testing for the Zika Virus
Benjamin Pinsky, MD, PhD, Stanford University, Stanford, CA, USA


Speaker Information
Anna Likos MD, MPH  [ view bio ]
Benjamin Pinsky MD, PhD  [ view bio ]

Patient Access to Genetic Data
Sandra Park, JD, American Civil Liberties Union, New York, NY, USA

Patient Perspective on Access to Genetic Data
Ken Deutsch, Patient Complainant in Myraid Filing, Cambridge, MA, USA

VITAL Information for Genetic Variant Interpretation
Elaine Lyon, PhD, ARUP Laboratories, Salt Lake City, UT, USA and Past AMP President

The Legal Environment for the Return of Genomic Screening Data
John M. Conley, JD, PhD, University of North Carolina School of Law, Chapel Hill, NC, USA



Speaker Information
John M. Conley JD, PhD  [ view bio ]
Ken Deutsch  [ view bio ]
Sandra Park JD  [ view bio ]
Individual topic purchase: Selected
AMP 2016 Presentation PDFs
AMP Regular Member: $99.00
AMP Technologist Member: $99.00
AMP Associate Member: $99.00
Non-member Price: $599.00