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2013 Archived Content

Clinical Sequencing

Translating NGS from Research to Practice


Day 1 | Day 2 | Day 3 | View TRICON Attendees 

Next-generation sequencing has the capability to permanently alter the clinical landscape, however, its implementation has raised issues for regulators and clinicians. In order to bridge the gap between research and medicine, collaborations must be formed to demonstrate clinical utility and guide this technology to standard clinical use. This conference will address the steps that need to be taken to integrate sequencing into the physician workflow as well as common challenges such as data analysis and storage. Case studies on the execution of genomic medicine and gene panels in oncology will also be presented.

Wednesday, February 13

7:00 am Registration and Morning Coffee


Plenary Keynote Session 

8:00 – 9:40 am Plenary Keynote Presentation - Personalized Oncology – Fulfilling the Promise for Today's Patients

In honor of the 20th anniversary of the Molecular Medicine Tri-Conference, CHI and Cancer Commons will present a plenary panel on Personalized Oncology. Innovations such as NGS and The Cancer Genome Atlas have revealed that cancer comprises hundreds of distinct molecular diseases. Early clinical successes with targeted therapies suggest that cancer might one day be managed as a chronic disease using an evolving cocktail of drugs.Representing all five conference channels, Diagnostics, Therapeutics, Clinical, Informatics, and Cancer, a panel of experts will lead a highly interactive exploration of what it will take to realize this vision in the near future.

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9:40 Refreshment Break in the Exhibit Hall with Poster Viewing


NGS Platforms and Workflows:
Data Analysis and Implementation

11:00 Chairperson's Opening Remarks

11:10 The Impact of Novel Sequencing Technologies on Antibody Discovery and Development

Jacob Glanville, Ph.D., Science Director, Distributed Bio

11:40 From Data to Discovery: Case Studies, Lessons Learned, and Next Steps

Joseph Szustakowski, Ph.D., Senior Group Head, Bioinformatics, Biomarker Discovery, Novartis Institutes for BioMedical Research

This presentation will describe several case studies to highlight the bioinformatics challenges we face when analyzing NGS data, the computational infrastructure required to enable such analyses, and the analysis algorithms and strategies used to solve the problems at hand.

12:10 pm Toward an Open Translational Research System: Leveraging tranSMART to Drive the Management of Clinical and Molecular Information

Jay Bergeron, Program Manager, Pfizer

Appistry12:40 Luncheon Presentation I: Scaling Science for Performance: Implementing a Cost-Effective "Big Data" Environment for Genetic AnalysisGordon Springer, Ph.D., Scientific Director, Department of Computer Science, University of Missouri Bioinformatics Consortium"Fabric computing" has enabled a leading agricultural genomics research consortium to scale automated sequencing pipelines and alleviate the data management burden associated with traditional high performance computing architectures. The environment facilitates research collaborations by enabling scientists to rapidly and cost effectively develop custom pipelines using their preferred bioinformatics tools.

Cycle Computing1:10 Luncheon Presentation II: Impossibly Large Database Modeling, Made Possible with Utility Supercomputing Jason Stowe, CEO, Cycle ComputingThis talk will discuss real world use cases for molecular modeling and genomics using very large databases on utility supercomputers. We'll cover historical and present analysis being done using Cycle software for small and large organizations, from Schrodinger to Novartis to the Morgridge Institute for Research, that yield viable compounds in the wetlab that would otherwise not have been found.

1:45 20th Anniversary Cake in the Exhibit Hall with Poster Viewing


Getting Personalized Diagnostics Ready for Clinical Use 

2:15 Chairperson's Remarks

2:20 Implementation of Deep (Next-Gen) Sequencing in a Clinical Lab

Toumy Guettouche, Ph.D., Assistant Professor, Hussman Institute for Human Genomics, Dr. John T. MacDonald Foundation Department of Human Genetics; Director, Genome Technology Assessment and Implementation, Center for Genome Technology; Director, Oncogenomics Core Facility, Sylvester Comprehensive Cancer Center, University of Miami, School of Medicine

The presentation will cover the implementation of deep (next-gen) sequencing in a clinical lab. This includes sample preparation and quality control from different types of starting material (e.g. dried blood spot and formalin fixed paraffin embedded samples) and workflow examples using different types of targeted panels.

2:50 Quality Control Parameters and Software Tools to Enable Clinical Sequencing on High-Performance Sequencing Platforms

Shawn Levy, Ph.D., Faculty Investigator, HudsonAlpha Institute for Biotechnology

The presentation will cover the implementation of deep (next-gen) sequencing in a clinical lab. This includes sample preparation and quality control from different types of starting material (e.g. dried blood spot and formalin fixed paraffin embedded samples) and workflow examples using different types of targeted panels.

3:20 Rapid Whole Genome Sequencing: From DNA to Diagnosis in 50 Hours

Darrell Dinwiddie, Ph.D., Director, Lab Operations, Center for Pediatric Genomic Medicine, Children's Mercy Hospitals and Clinics

Disease progression in newborns is often fast and heterogeneous, so molecular diagnosis must occur rapidly for relevant clinical decision making. Here, we describe 50-hour differential diagnosis of genetic disorders by whole genome sequencing (WGS), featuring substantially automated bioinformatic analysis.

genia3:50 Solving the Challenges of DNA Sequencing for Molecular Diagnostics

Stefan Roever, CEO & Founder, Genia Technologies

There is no debate that genetic information is needed to truly realize the promise of personalized medicine.The problem is that today's DNA sequencers cost anywhere from $50K - $1M, rely on complicated optics, and utilize a complex workflow that does not lend itself to clinical utility.

4:20 Networking Reception in the Exhibit Hall with Poster Viewing (Sponsorship Opportunities Available)

5:20 Breakout Discussions in the Exhibit Hall

6:20 Close of Day

Day 1 | Day 2 | Day 3