Next Generation Dx Summit

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WEDNESDAY, AUGUST 20

7:15 am Registration


7:30 – 8:25 Problem-Solving Breakout Discussions with Continental Breakfast

These interactive discussion groups are open to all attendees, speakers, sponsors, & exhibitors. Participants choose a specific breakout discussion group to join. Each group has a moderator to ensure focused discussions around key issues within the topic. This format allows participants to meet potential collaborators, share examples from their work, vet ideas with peers, and be part of a group problem-solving endeavor. The discussions provide an informal exchange of ideas and are not meant to be a corporate or specific product discussion.

Validation and Implementation of NGS Assays

Moderator: Helen Fernandes, Ph.D., Pathology & Laboratory Medicine, Weill Cornell Medical College

  • Processes needed to run NGS in a clinical setting
  • Analysis of cancer related variants
  • Pros and cons of NGS in the clinic

Standardized, Distributed Data Analyses in Clinical Studies

Moderator: Jeremy Goecks, Ph.D., Assistant Professor, Computational Biology, Integrative Systems Biology and The Computational Biology Institute, George Washington University

  • What are the current challenges for doing standardized, distributed data analyses (SDDA)?
  • What computer systems and interfaces are needed for doing SDDA?
  • How should different types of data be stored so that they are both secure and usable?
  • Are there existing computational tools or frameworks that can be used/adapted for doing SDDA?
  • What is the role of cloud computing for SDDA?
 

MAKING DATA ACTIONABLE

8:25 Chairperson’s Opening Remarks

Jennifer Morrissette, Ph.D., University of Pennsylvania Perelman School of Medicine

8:30 My Cancer Genome - Cancer Genomics Knowledge Resource

Christine LovlyChristine M. Lovly, M.D., Ph.D., Assistant Professor, Medicine and Cancer Biology, Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Vanderbilt Ingram Cancer Center

Evidence regarding the clinical significance of tumor gene mutations for predicting response to cancer treatments is evolving at a rate that outpaces traditional approaches to knowledge dissemination. My Cancer Genome addresses this challenge by providing up-to-date information on mutation-specific treatments and clinical trials. Current content covers 293 mutations across 18 cancer types.

9:00 Driving Personalized Medicine and Clinical Diagnostics Using Genome Sequencing, Exome Sequencing, and Integrative Genomics

Rong ChenRong Chen, Ph.D., Assistant Professor, Genetics and Genomic Sciences; Director, Clinical Genome Informatics, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai

This presentation will discuss applying data from WES and WGS for diagnosis and decision making in the clinical lab. Integrating and targeting various molecular measurements into biomarkers through disease diagnostics will also be discussed. Finally, discovery of casual variants, pathway, and mechanisms to illustrate human cancers will be explored.

9:30 Creating and Using Tumor Genome Profiles with Galaxy

Jeremy GoecksJeremy Goecks, Ph.D., Assistant Professor, Computational Biology, Department of Integrative Systems Biology and The Computational Biology Institute, George Washington University

We describe open, reproducible pipelines that create a genomic profile of a tumor and use the profile to identify mutations associated with disease and pertinent drugs. These pipelines analyze tumor exome and transcriptome sequence data together with public databases to find mutations and drugs. These pipelines are integrated into the Galaxy platform to make them accessible and reproducible, thereby providing an approach for doing standardized, distributed analyses in clinical studies.

10:00 Sponsored Presentation (Opportunity Available)

10:30 Coffee Break in Exhibit Hall with Poster Viewing


PLENARY SESSION: Think Tank on Next-Generation Sequencing Diagnostics

11:00 Chairperson’s Opening Remarks

Harry Glorikian, Healthcare Consultant

11:10 Discussion: Regulatory Review of Clinical Sequencing Assays

Harry GlorikianModerator: Harry Glorikian, Healthcare Consultant

 

Jennifer DickeyGuest Speaker: Jennifer Dickey, RAC, Ph.D., Office of In Vitro Diagnostics, DIHD, US Food and Drug Administration

 

In November of 2013, the FDA issued the first clearances of Next Gen Sequencing- (NGS) based assays. There have additionally been a number of clinical trials approved recently that utilize NGS-based assays for patient enrollment or stratification. In light of the expanding roles that new sequencing technologies are playing in clinical decision making, this talk will focus on critical elements that FDA considers when evaluating NGS validation using the recent clearances/approvals as examples. There will also be a discussion of any new communications that FDA has issued in regard to the regulatory review of NGS- based assays. Following the discussion there will be a Q&A with the audience.

11:55 Next-Generation Sequencing in Clinical Practice: Case Reports of Clinical Utility and Reimbursement  

Elaine LyonModerator: Elaine Lyon, Ph.D., Medical Director, Molecular Genetics, ARUP

 

Case Presenters:

Andrea Ferreira-Gonzalez Andrea Ferreira-Gonzalez, Ph.D., Professor, Pathology; Director, Molecular Diagnostics Lab, Virginia Commonwealth University

 

Madhuri HegdeMadhuri Hegde, Ph.D., FACMG, Professor, Human Genetics; Executive Director, Emory Genetics Laboratory, Emory University School of Medicine

 

The landscape of next-generation sequencing diagnostics is changing rapidly. Clinical laboratories are offering highly complex tests using new technologies, but face challenges in reimbursement. To be reimbursed for these tests, laboratories will need to address clinical utility as well as clinical validity. Clinical cases that demonstrate the utility of genomic oncological and inherited disease testing will be presented. Experiences with reimbursement of these tests will be discussed.


12:40 pm Close of Conference



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