This collection will give you access to select recordings of the 2017 Annual Meeting presentations and some of the associated pdf slides (see the topics tab for a complete list of the talks) .

Continuing education credit is no longer available.


The AMP 2017 Annual Meeting (November 16-18, 2017 in Salt Lake City, UT) showcased an impressive roster of speakers covering a wide range of topics in molecular diagnostics. The theme for the meeting was "Where Molecular Leads Medicine to Best Patient Care" and the presentations highlighted the true clinical utility of molecular diagnostics. In AMP 2017 Annual Meeting Highlights, catch up on the the most cutting-edge research in molecular pathology in topics ranging from CRISPR technologies, liquid biopsies, and the microbiome, to epigenetic roles in human disease, and new tools for interpreting the cancer genome. Click on the "Topics" tab for a list of the available presentations and click on the titles for more information about each session.

Duration:  13.25 hrs

 

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Course Information
Date Presented:
November 16, 2017 12:00 AM Eastern
Length:
No Longer Available
Click on a topic name to see details and purchase options.
Thursday November 16, 2017

An introduction to epigenetics and its relevance to common human disease.

Learning Objectives

  • Define epigenetics.
  • Discuss the role of epigenetics in common human disease.
  • Explain how epigenetics can be combined with genetics for precision medicine.

 

Speaker: Andrew P. Feinberg, MD, MPH Johns Hopkins University School of Medicine, Baltimore, MD, USA

Duration: 1.25 hr

Recording Date: November 16, 2017

Tags
Diabetes
Obesity
Cancer
Methylation
melanoma
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Feinberg Presentation
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00

This presentation provides an overview of recent advances in the understanding of the molecular pathogenesis of diffuse large B-cell lymphoma, the most common mature B-cell malignancy. The speakers illustrate the most common genes/programs targeted by genetic lesions in this disease, with emphasis on epigenetic modifiers; discuss the role of these genes in normal and malignant B-cells; and highlight how these molecular insights have unveiled novel therapeutic opportunities.

  • Define the most common structural alterations associated with major DLBCL subtypes and their prognostic significance.
  • Explain how these lesions may favor malignant transformation.
  • Identify ways to utilize this information for diagnostic and therapeutic purposes.

 

The Genomic Landscape of B-Progenitor Acute Lymphoblastic Leukemia (ALL)

Charles G. Mullighan, MBBS (Hons), MSc, MD, St. Jude Children's Research Hospital, Memphis, TN, USA

 

Genetic and Epigenetic Drivers of Diffuse Large B Cell Lymphoma (DLBCL)

Laura Pasqualucci, MD, Columbia University Medical Center, New York, NY, USA

 

Duration: 1.5 hr

Recording Date: November 16, 2017

Tags
Oncology
Cancer
hematopathology
ph-like
lymphoid neoplasms
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Mullighan and Pasqualucci Presentation
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00

Prior infection with a virus or bacteria can set the stage for development of malignancy. In these presentations the links between two viruses, human papilloma virus (HPV) and Epstein Barr virus (EBV), and the development of cancer are explored. The role of molecular testing in the diagnosis and monitoring of disease are discussed.

  • Review the epidemiology of viral infections and the development of malignancy.
  • Discuss the risks and available treatment for HPV and EBV related cancers.
  • Explore the types of testing and their role in the diagnosis and monitoring of affected patients.

 

HPV and Head and Neck Cancer
Joseph A. Califano, MD, University of California, San Diego, CA, USA

Blood-based Assessment of EBV DNA as a Tumor Marker
Jennifer A. Kanakry, MD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

 

Duration: 1.5 hr

Recording Date: November 16, 2017

 

Tags
Oncology
infectious diseases
Solid Tumors
nasopharyngeal cancer
cervical cancer
oropharynx
Hodgkins
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Califano and Kanakry Presentation
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00

The ability to understand the world through the use of molecular tools has led to fascinating discoveries. Maria Dominguez-Bello examines the concept of microbial anthropology, exploring the human microbiome in peoples with different levels of integration to Western lifestyles in the Amazon region and Southern Africa. Jonna Mazet then describes the Global Virome project, a ten-year project to pre-empt emerging pandemic threats by identifying the majority of unknown viruses throughout the world that are likely to infect humans.

  • Describe the technologies used to make pathogen discovery possible.
  • Explore the differences in microbiota of different groups of humans and the impact of Western lifestyles on the makeup of the human microbiome.
  • Review efforts to combat the emergence and re-emergence of high impact viral epidemics and pandemics compromising global health security and well-being of the peoples of the world.

 

Microbial Anthropology
Maria G. Dominguez-Bello, PhD, BSc, MSc, New York University School of Medicine, New York, NY, USA

A Collaborative Effort to End the Pandemic Era: The Global Virome Project
Jonna Mazet, DVM, MPVM, PhD, One Health Institute, University of California, Davis, CA, USA

 

Duration: 1.5 hrs

Recording Date: November 16, 2017

Tags
reproduction
Microbiome
infectious diseases
metagenomics
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Dominguez-Bello and Mazet Presentations
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00
Friday November 17, 2017

The fields of Cancer Genomics and Molecular Pathology are each complex and rapidly changing, and their intersection makes our practice challenging. Supporting clinical care and clinical research in an efficient manner requires an infrastructure to provide access to relevant information and an array of tools to prioritize and present this information in a form that helps advances team goals. These presentations describe informatics approaches that support the Precision Oncology goals of cancer genomic variant effect interpretation based on prior knowledge and statistical recurrence, and on the support of clinical trial activity.

  • Discuss two informatics challenges in Precision Oncology.
  • Discuss an infrastructure element that addresses one challenge.
  • Discuss an analytical tool that addresses one challenge.

 

Molecular Pathology Informatics - Toolsets and Infrastructures for Supporting Clinical Trials
Mark Routbort, MD, PhD, University of Texas MD Anderson Cancer Center, Houston, TX, USA

Interpreting the Cancer Genome: Identifying Driver Alterations and Therapeutic Options
Nikolaus Schultz, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

 

Duration: 1.5 hrs

Recording Date: November 16, 2017

Tags
Cancer
informatics
Variants
NCI-MATCH
OncoKB
cBioPortal
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Routbort and Schultz Presentations
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00

The first presentation will discuss the work done in the lab of Dr. Iafrate that focuses on bringing new genetic technologies to cancer diagnostics and the application of these in clinical molecular diagnostic testing. The work has led to the development of a novel next generation sequencing technique termed “Anchored Multiplex PCR (AMP)” that is especially powerful at the detection of gene fusion events from clinical specimens. We have shown that AMP is as sensitive as FISH in diagnosing ALK, ROS1 and RET fusions in lung cancer, and does not require knowing both fusion partners. In addition, AMP can be used for genomic DNA target enrichment and is scalable and cost effective. Current work focuses on ultrasensitive detection of mutations in blood and urine. Genomic sequencing technologies have enabled increasing use of cancer genetic testing for both germline cancer predisposition and somatic mutation profiling in tumors.

The second presentation will review the interplay between germline and somatic findings in cancer genetic testing, with particular emphasis on new areas of clinical utility. These new areas include germline testing of cancer predisposition genes to guide cancer treatment decisions, tumor DNA sequencing to rule out Lynch syndrome, and tumor DNA sequencing used to inform germline variant classification.

  • Describe sequencing strategies to identify gene fusions in cancer.
  • Discuss key elements required for the validation of gene fusions detected.
  • Discuss the clinical utility of NGS-based detection of gene fusions in clinical practice.
  • Review when and how testing for inherited mutations in BRCA1, BRCA2, and other homologous recombination DNA repair genes is used to guide cancer treatment.
  • Describe the clinical scenario and utility of tumor sequencing of mismatch DNA repair genes as part of a Lynch syndrome workup.
  • List at least two types of tumor findings that increase the probability that a germline variant in a cancer predisposition gene is pathogenic.

 

Solid Tumor Genotyping: Technical and Clinical Validation with a Focus on Fusions
A. John Iafrate, MD, PhD, Massachusetts General Hospital, Boston, MA, USA

Intersection of Germline and Somatic Cancer Variants and New Areas of Clinical Utility
Colin C. Pritchard, MD, PhD, University of Washington, Seattle, WA, USA

Tags
Oncology
Lynch Syndrome
colon
Cancer
Lung
nsclc
NGS
rearrangements
melanoma
thyroid
mismatch repair
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Iafrate and Pritchard Presentations
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00

Genetic testing for inherited cardiomyopathies has evolved significantly over the last decade. This session will describe the genotypic and phenotypic aspects of cardiomyopathies, including how specific features of the disease can narrow the genetic differential diagnosis. The availability of large sequencing panels for focused diagnostic panels and predictive screening tests, the side effect of variants of uncertain significance, and the need for standardization of variant interpretation will be highlighted.

  • Examine the basic pathological and genetic aspects of cardiomyopathies.
  • Recognize the impact of clinical and genetic heterogeneity on genetic tests.
  • Assess the pros and cons of disease focused gene panels versus whole exome sequencing.

 

Phenotype to Genotype: How Traditional Techniques Pave the Way to Targeted Testing and Individualized Medicine
Joseph J. Maleszewski, MD, Mayo Clinic, Rochester, MN, USA

From Genes to Genomes: Evolution of Molecular Testing for Inherited Cardiomyopathies
Birgit Funke, PhD, Veritas Genetics, Danvers, MA, USA

Harvard Medical School, Boston, MA, USA

 

Duration: 1.5 hrs

Recording Date: November 17, 2017

Tags
Cardiomyopathies
NGS
Variants
Inherited Conditions
clingen
sudden cardiac death
myxomas
Carney complex
titin
Fabry
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Maleszewski and Funke Presentations
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00
Saturday November 18, 2017

In this session, the speakers will provide an overview of genetic-based mitochondrial disease. This will include a discussion of the dual-genome etiology, substantial clinical heterogeneity across all ages, and emerging therapeutic options. Recent genomic sequencing technologies have greatly enabled diagnostic success for these more than 300 distinct genetic diseases. The speakers will also provide a state-of-the art update on prevention of mitochondrial DNA diseases using new in vitro fertilization techniques.

  • Recognize that mitochondrial diseases are collectively common genetic conditions due to either nuclear or mtDNA mutations.
  • Acknowledge that the diagnosis of mitochondrial disease can be challenging due to marked clinical and genetic heterogeneity.
  • Discuss how NGS diagnostic techniques have transformed the diagnosis.
  • Recognize that current treatment of mitochondrial disease is largely symptomatic, but new therapies are emerging and IVF technologies allow potential to prevent disease transmission.

 

Overview of Mitochondrial Disease and Nuclear Genetic Causes
Marni J. Falk, MD, Children's Hospital of Philadelphia, Philadelphia, PA, USA and University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA

Mitochondrial DNA Disease: Etiology, Diagnosis, and Prevention
Sir Doug Turnbull, MBBS, MD, PhD, Newcastle University, Newcastle, UK

 

Duration: 1.5 hrs

Recorded Date: November 18, 2017

Tags
Inherited Conditions
Leigh syndrome
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Falk and Turnbull Presentations
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00

In an era of routine high throughput medical and tumor exome sequencing, putative drivers may be readily identified but functional annotation is often lacking and ultimately the genetic underpinnings of many diseases left uncertain. Forward genetic screens evaluate a large number of genomic targets for their relevance to a specific phenotype and recent technological advances permit total gene knockdown that can be applied across many thousands of genes. Sequence-specific programmable nucleases such as CRISPR-Cas9 enable targeted modification of the DNA itself; CRISPR technologies employed with guide RNA libraries can permit genome-scale screening to identify novel mechanisms of phenotypic abnormalities in constitutional and somatic contexts. Directed applications, including in-patient derived cell models, allow for exploration of mechanisms of drug resistance and identification of novel functional elements in the noncoding genome and epigenome.

  • Explore the activities and specificities of CRISPR nucleases and the implications for clinical applications.
  • Describe how CRISPR screens can identify novel regulatory sites in the genome and epigenome relevant to cancer evolution and chemotherapy resistance.
  • Identify applications of genome editing in human cancers using patient-derived cell models for exploration of signaling networks and novel therapeutic targets.

 

Genome Editing with CRISPR-Cas Nucleases
J. Keith Joung, MD, PhD, Massachusetts General Hospital, Charlestown, MA, USA

Accelerating Prediction of Tumor Vulnerabilities Using Next-generation Cancer Models
Jesse S. Boehm, PhD, Broad Institute, Cambridge, MA, USA

 

Duration: 1.5 hrs

Recording Date: November 18, 2017

 

Tags
CRISPR
off-target
cancer dependencies
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Joung and Boehm Presentations
AMP Regular Member: $50.00
AMP Technologist Member: $50.00
AMP Associate Member: $50.00
Non-member Price: $98.00
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AMP 2017 Annual Meeting Highlights - ALL
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