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Cambridge Healthtech Institute’s Third Annual

Clinical NGS Assays

Addressing Validation, Standards, and Clinical Relevance for Improved Outcomes

August 23-24, 2016 | Grand Hyatt Hotel | Washington, DC

Reporter: Stephen J. Williams, PhD

Molecular diagnostics, particularly next-generation sequencing (NGS), have become an integral component of disease diagnosis. Still, there is work to be done to establish these tools as the standard of care. The Third Annual Clinical NGS Assays event will address NGS assay validation, establishing NGS standards, and determining clinical relevance. The pros and cons of various techniques such as gene panels, whole exome, and whole genome sequencing will also be debated with regards to depth of coverage, clinical utility, and reimbursement. Overall, this event will address the needs of both researchers and clinicians while exploring strategies to increase collaboration for improved patient outcomes.

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Preliminary Agenda

ASSAY VALIDATION AND ANALYSIS

Best Practices for Using Genome in a Bottle Reference Materials to Benchmark Variant Calls
Justin Zook, National Institute of Standards and Technology

NGS in Clinical Diagnosis: Aspects of Quality Management
Pinar Bayrak-Toydemir, M.D., Ph.D., FACMG, Associate Professor, Pathology, University of Utah; Medical Director, Molecular Genetics and Genomics, ARUP Laboratories

Thorough Validation and Implementation of Preimplantation Genetic Screening for Aneuploidy by NGS
Rebekah Zimmerman, Ph.D., Laboratory Director, Clinical Genetics, Foundation for Embryonic Competence

EXOME INTERPRETATION CHALLENGES

Are We There Yet? The Odyssey of Exome Analysis and Interpretation
Avni B. Santani, Ph.D., Director, Genomic Diagnostics, Pathology and Lab Medicine, The Children’s Hospital of Philadelphia

Challenges in Exome Interpretation: Intronic Variants
Rong Mao, M.D., Associate Professor, Pathology, University of Utah; Medical Director, Molecular Genetics and Genomics, ARUP Laboratories

Exome Sequencing: Case Studies of Diagnostic and Ethical Challenges
Lora J. H. Bean, Ph.D., Assistant Professor, Human Genetics, Emory University

ESTABLISHING STANDARDS

Implementing Analytical and Process Standards
Karl V. Voelkerding, M.D., Professor, Pathology, University of Utah; Medical Director for Genomics and Bioinformatics, ARUP Laboratories

Assuring the Quality of Next-Generation Sequencing in Clinical Laboratory Practice
Shashikant Kulkarni, M.S., Ph.D., Professor, Pathology and Immunology; Head of Clinical Genomics, Genomics and Pathology Services; Director, Cytogenomics and Molecular Pathology, Washington University at St. Louis

Sponsored Presentation to be Announced by Genection

PANEL DISCUSSION: GENE PANEL VS. WHOLE EXOME VS. WHOLE GENOME

Panelists:
John Chiang, Ph.D., Director, Casey Eye Institute, Oregon Health & Science University
Avni B. Santani, Ph.D., Director, Genomic Diagnostics, Pathology and Lab Medicine, The Children’s Hospital of Philadelphia
Additional Panelist to be Announced

DETERMINING CLINICAL SIGNIFICANCE AND RETURNING RESULTS

Utility of Implementing Clinical NGS Assays as Standard-of-Care in Oncology
Helen Fernandes, Ph.D., Pathology & Laboratory Medicine, Weill Cornell Medical College

An NGS Inter-Laboratory Study to Assess Performance and QC – Sponsored by Seracare
Andrea Ferreira-Gonzalez, Ph.D., Chair, Molecular Diagnostics Division, Pathology, Virginia Commonwealth University Medical School

This conference is part of the Eighth Annual Next-Generation Dx Summit.

Track Sponsor:

For exhibit & sponsorship opportunities, please contact:
Joseph Vacca, M.Sc.
Associate Director, Business Development
Cambridge Healthtech Institute
T: (+1) 781-972-5431
E: jvacca@healthtech.com