2018 Exhibit Theater Schedule

Exhibit Theater Presentations are 30-minute presentations held in theaters in the Exhibit Hall during exhibit hours and are presented by exhibiting companies.  These sessions showcase the companies’ recent developments and applications of their products, techniques, and/or services, and they demonstrate how the products or services are used in practical and/or clinical settings.

These presentations are not planned by the Program Committee and are not approved for CME or CEUs. 



Theater 1

Theater 2

10:30 am - 11:00 am

Amicus Therapeutics

Fabry Disease - Role of the Genetic Counselor in a Changing Landscape
Speaker(s): Lisa Berry, MS, LGC, Cincinnatti Children's Hospital Medical Center

Blueprint Genetics

Optimizing Whole Exome Sequencing Assays for Clinical Diagnostics of Rare Diseases in a Pediatric Population
Speaker(s): Jennifer Schleit, PhD, FACMG, Blueprint Genetics


11:05 am – 11:35 am


Automated Preparation of Chromosome and FISH Slides
Speaker(s): James Stanchfield, PhD, SciGene

Fabric Genomics

Accurate and Rapid Interpretation of Pediatric Genomes
Speaker(s): Martin Reese, PhD, Fabric Genomics; Stephen Kingsmore, MD, Rady Children’s Hospital

11:40 am – 12:10 pm

Thermo Fisher

Flexible Del/Dup Array Lowers False Positives and Strengthens Analysis: Implementation and Case Review
Speaker(s): Alka Chaubey, PhD, Greenwood Genetic Center

Centogene AG

CentoGenome® Clinical Genome Sequencing – Fast and Reliable Diagnostics in Rare Diseases
Speaker(s): Prof. Peter Bauer, MD, Centogene AG, University Hospital Tuebingen

12:15 am – 12:45 pm

Roche Sequencing Solutions, Inc.

Non-invasive Prenatal Testing (NIPT) for 22q11.2 Deletion Syndrome – Overview of the Available Evidence and Implications for Clinical Practice
Speaker(s): Liza Kunz, MD, Roche Sequencing Solutions, Inc.


Improving Rare Disease Diagnosis with Metabolomics
Speaker(s): Kirk Pappan, PhD, Metabolon


FRIDAY, APRIL 13, 2018


Theater 1

Theater 2

10:10 am - 10:40 am


Screen Us All: The Case for Population Screening for BRCA1/2, Lynch, and Familial Hypercholesterolemia
Speaker(s): Alicia Zhou, PhD, Color

Fulgent Diagnostics

The New Era of Diagnostic Testing: Chromosomal Sequencing Analysis (CS)
Speaker(s): Sam Strom, PhD, FACMG, Fulgent Genetics


10:45 am – 11:15 am

Horizon Pharma

Panel Discussion: Current Clinical Perspectives in UCD Management
Speaker(s): George Diaz, MD, Mount Sinai Hospital; Kimihiko Oishi, MD, Ican School of Medicine at Mount Sinai

BioDiscovery, Inc.

Combined Analysis and Interpretation of CNV, AOH and Sequence Variants Detected from a Single NGS Assay
Speaker(s):Sarah Murray, PhD, UCSD Cytogenetics Lab; Soheil Shams, BioDiscovery, Inc.

11:20 am – 11:50 am

Integrated Genetics

Facing the Challenges of cfDNA Testing - Lessons Learned From Over One Million Specimens
Speaker(s): Ron McCullough, PhD, Integrated Genetics


Strensiq (asfotase alfa): A First-In-Class Enzyme Replacement Therapy for the Treatment of Patients with Pediatric-Onset Hypophosphatasia (HPP)
Speaker(s): Susanna Sorrentino, MD, Clinical Geneticist

11:55 am – 12:25 pm

Genomenon, Inc.

Faster Patient Diagnosis: Automated  ACMG Variant Classification
Speaker(s):Birgit Funke, Veritas Genetics; Mark Kiel, MD, PhD, Genomenon, Inc.


Whole Genome Sequencing from Dried Blood Spots Using Highthroughput Linked-Read Sequencing
Speaker(s): Sarah Garcia, PhD, MS, CGC, 10X Genomics

12:30 pm – 1:00 pm

Concert Genetics

Hold the Phone! A Simpler Insurance Coverage Workflow for Genetic Tests
Speaker(s): Gillian W. Hooker, PhD, ScM, LCGC, Concert Genetics

Agilent Technologies

Samples to Answer: Developing a Cost-Effective and Robust Exome Workflow
Speaker(s): Sandra Melo, PhD, Agilent Technologies