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Clinical Genomics for Cancer Diagnostics
Clinical Genomics for
Cancer Diagnostics
2013 Brochure
 


 

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PRE-CONFERENCE SHORT COURSES* 


SUNDAY, SEPTEMBER 22 | 2:00 PM - 5:00 PM


Commercialization Boot Camp: Manual for Success in the Molecular Diagnostics Marketplace


This workshop will define the priority checklist for executing a successful strategy and operational plan for commercializing molecular diagnostics. It will examine the process of bringing a product to market based on data driven case histories. Financial resources needed to execute the project plan will be measured in the current climate. Participants will learn key requirements for advancing molecular diagnostics through product development. This course will leverage the instructors' years of accumulated experience spanning financial, technical and scientific acumen, as well as overcoming roadblocks on the path to commercial success.

Instructors:

Harry Glorikian, Managing Director, Strategy, Precision for Medicine

Elaine Cheung, Business & Corporate Development, Illumina 



MONDAY, SEPTEMBER 23 | 9:00 AM - 12:00 PM


Next-Generation Sequencing for Clinical Cancer Diagnostics

  • Implementation challenges
  • Bioinformatics - working with and analyzing big data
  • Special considerations for cancer management

Robert D. Daber, Ph.D., Technical Director, Clinical Genomics, Center for Personalized Diagnostics, Perelman School of Medicine, University of Pennsylvania

Jennifer Morrissette, Ph.D., Director, Cancer Cytogenetics, Center for Personalized Diagnostics, University of Pennsylvania

Jeremy Segal, M.D., Ph.D., Assistant Professor, Pathology, University of Chicago 

 

DETAILED AGENDA

Technical Considerations for Applying NGS to Clinical Cancer Diagnostics

Jeremy Segal, M.D., Ph.D., Assistant Professor, Pathology, University of Chicago

Next Generation Sequencing (NGS) is facilitating a revolution in clinical cancer care. With treatments increasingly targeted towards specific genetic anomalies in individual tumors, NGS technology is becoming a mainstay of the cancer diagnostics laboratory, given its power to perform broad genomic analysis at comparatively low cost. This session will introduce the essential basics of NGS systems and workflows, and move on to a discussion of various NGS-based strategies used by clinical diagnostics laboratories to perform patient-oriented cancer genomic analysis. Special attention will be given to the inherent practical and technical complexities of performing NGS-based diagnostics on cancer specimens, with additional time devoted to considerations for applying massively parallel sequencing and data analysis within a CLIA-certified setting.

The In’s and Out’s of NGS Informatics

Robert D. Daber, Ph.D., Technical Director, Clinical Genomics, Center for Personalized Diagnostics, Perelman School of Medicine, University of Pennsylvania

Rapid advancements in next generation sequencing have opened the door for unprecedented diagnostic capabilities. While these technologies make it feasible to sequence large genomic regions in very short periods of time, the overall utility is limited by the weakest link in the assay. Currently, the major bottleneck to unlocking the full potential of this technology remains creating bio-informatic workflows that accurately identify variants within the data. During development and clinical validation of our two oncology sequencing panels we were confronted with the lack of a clinical grade solution for data analysis that was adequately tested to identify hard limits of detection. Prior to clinical launch we embarked on a project to define overall limitations of the various informatics solutions allowing us to determine actual sensitivities and specificities of our analysis approach.

Practical Aspects of Next Generation Sequencing in Clinical Cancer Care

Jennifer Morrissette, Ph.D., Director, Cancer Cytogenetics, Center for Personalized Diagnostics, University of Pennsylvania

The goal of this section is to discuss practical topics regarding the implementation and clinical utility of genomic sequencing for cancer diagnosis and prognosis. This discussion will revolve around the logistics of content (hotspot, panels, exome, genome) and management of specimens. In our laboratory we have found that DNA quality and tumor percentage are the most important components for successful mutation detection. Physician education and report structure is critically important. The education and reporting section will include physician education strategies, mutation and variant categorization, allele frequency, and the incidentalome. Currently, a major bottleneck is the incorporation of the expanded genomic knowledge into the clinical roadmap for the patient. The identification of driver mutations in a tumor can influence treatment, or can present a hurdle to the clinical team. In this section, the utility of clinical trials for the utilization of off-target treatment and commercial partnerships to obtain diagnostic and treatment tools for patient management. Finally we will discuss strategies for reimbursement, specifically some of the new CPT codes and our experience of discussions with payers.

*Separate registration required 

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