2015 Next Generation Dx Summit

Cambridge Healthtech Institute’s Second Annual
Clinical NGS Assays
Exploring Technical Mechanisms and Medical Utility
August 18-19, 2015 | Capital Hilton | Washington, DC

With more clinical labs consistently turning to next-generation sequencing (NGS) assays, there is an overwhelming need to understand the fundamentals of running, designing, analyzing and validating NGS tests. The Second Annual Clinical NGS Assays will provide attendees with a comprehensive view of the technical considerations for implementing NGS assays as well as showcase best practices. Regulatory issues specific to NGS such as CLIA accreditation and FDA clearance will also be addressed from both the academic lab and commercial lab perspective. Finally, the clinical potential for NGS technologies will be explored by both physicians and research scientists, providing future directions for successful implementation.

Day 1 | Day 2 | Short Courses | Download Brochure 


7:30 am Main Conference Registration & Morning Coffee


8:30 Chairperson’s Opening Remarks

8:40 NCI Clinomics Program: Clinical Cancer Panel and Exome Sequencing and Beyond

Jimmy Lin, M.D., Ph.D., MHS, Director, Clinical Genomics, Genetics Branch, Center for Cancer Research, National Cancer Institute (NCI), National Institutes of Health (NIH)

At the NCI Center for Cancer Research, the ClinOmics Program has been established to perform systematic molecular, genomic, transcriptomic, proteomic, metabolomics and other high throughput (³Omics²) profiling on tumor and normal tissues on enrolled patients treated at the CCR and other NCI divisions for the identification of biomarkers and targets for therapy. I will highlight the technical considerations for our validation and design rationale for our assays.

9:10 Considerations for Optimizing Results with Ion Proton Sequencing

Todd E. Arnold, Ph.D., Managing Director, Mount Sinai Genetic Testing Laboratory; Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology

The presentation will discuss important elements for sequencing assays run on the Ion Proton Platform. Topics will include assay design parameters, sample preparation, quality metrics, and multiplexing.

9:40 Rapid Turnaround Inherited Disease Panel in the NICU

Rong Mao, M.D., FACMG, Associate Professor, Pathology, University of Utah School of Medicine; Medical Director, Molecular Genetics and Genomics, ARUP Laboratories

Within the 4000 known single gene disorders, a significant fraction manifests symptoms during the newborn period. A rapid diagnosis of newborn diseases could make the difference between life and death and reduce length of stay in the neonatal intensive care unit (NICU). A targeted 4200 known disease causing gene panel has been developed with a short turnaround and a focused interpretation combining genetics etiology with phenotype will provide a comprehensive clinical understanding of disease in NICU.

10:10 Coffee Break in the Exhibit Hall with Poster Viewing


10:55 Chairperson’s Remarks

Justin Zook, Ph.D., Researcher, National Institute of Standards and Technology (NIST)

11:00 Genome in a Bottle: You May Have Sequenced, but How Well Did You Do?

Justin Zook, Ph.D., Researcher, National Institute of Standards and Technology (NIST)

Clinical laboratories, research laboratories and technology developers all need DNA samples with reliably known genotypes in order to help validate and improve their methods. The Genome in a Bottle Consortium (www.genomeinabottle.org) has been developing reference DNA standards with high-accuracy whole genome sequences to help support these efforts internationally.

11:30 From Gene Panels to Exome Sequencing - Validation and Implementation of NGS Assays in the Clinic

Matthew Lebo, Ph.D., FACMG, Director, Bioinformatics; Assistant Laboratory Director, Personalized Medicine Laboratory for Molecular Medicine, Partners Healthcare; Instructor, Pathology, Brigham and Women’s Hospital, Harvard Medical School

This presentation will give an overview of state of the art clinical NGS and discuss validation, clinical implementation and the migration from gene panels to exome sequencing for inherited disorders with clinical and genetic heterogeneity.

12:00 pm Strategies for the Validation of Next-Generation Sequencing-Based Multi-Gene Panels in Cancer Diagnostics including Copy Number Analysis

Martin P. Powers, M.D., Molecular Genetic Pathologist, Co-Lab Director; NYS Lab Director, InVitae

When validating a multi-gene panel including copy number analysis, certain challenges may present themselves especially with regard to accuracy, precision, sample choice and verification of results. Strategies and proposed solutions to said problems will be presented in the framework of validating a multi-gene hereditary cancer panel.

SeraCare12:30 Presentation to be Announced

12:45 Sponsored Presentation (Opportunity Available)

1:00 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:30 Refreshment Break in the Exhibit Hall with Poster Viewing


2:00 Chairperson’s Remarks

David I. Smith, Ph.D., Professor, Laboratory Medicine & Pathology, Mayo Clinic

2:05 Exploring Next-Generation Sequencing Data: Targeted vs. Genomic Approaches

Pinar Bayrak-Toydemir, M.D., Ph.D., Medical Director, Molecular Genetics and Genomics Laboratory, ARUP; Associate Professor, Pathology, University of Utah School of Medicine

2:35 Novel Targeted NGS Test for Retinal Dystrophy Empowers Precision Medicine

John Chiang, Ph.D., FACMG, Director, Casey Molecular Diagnostics Laboratory, Oregon Health and Science University

As molecular diagnosis becomes an integral component of clinical diagnosis of retinal dystrophy, the methods through which clinicians are granted insight into the molecular mechanisms underlying clinical presentation are rapidly evolving. The recent emergence of NGS offers an exciting new avenue for more comprehensive molecular diagnosis of complex inherited conditions like Retinal Dystrophy (RD). To this end we have developed a high quality and cost effective test for patients who present with RD. This clinical offering has been used to interrogate the underlying molecular mechanisms involved in the presentation of RD in over 700 patients up to date. Implementation of this Next Gen Dx has improved our understanding of the genes contributing to RD, is leading to improved patient care and offers certain patients the opportunities to be enrolled in clinical trials.

3:05 Next-Generation Sequencing Platforms: Where We Are and Where We’re Going

David I. Smith, Ph.D., Professor, Laboratory Medicine & Pathology, Mayo Clinic

I will briefly discuss the history of next generation sequencing and the various platforms that were developed using massively parallel sequencing. I will then discuss the current state of next generation sequencing and how these technologies are going to quickly transform clinical practice.

Genection3:35 MyAML™ Next-Generation Sequencing (NGS) Assay Associates with Clinical Outcomes

Brad Patay, M.D., CMO, Genection

Demonstrate how Genection’s MyAML CLIA- and CAP-accredited next generation sequencing assay identifies clinically actionable pathogenic mutations in 194 acute myeloid leukemia (AML) genes. Give examples comparing conventional karyotyping and how a NGS assay outperforms standard cytogenetics by detecting novel fusion partners and cryptic translocations. Demonstrate actionability of MyAML assay showing links to clinical trials and druggable targets. Finally, the session will highlight compliance with secondary findings concepts from recent ACMG and AMP recommendations.

4:05 Refreshment Break in the Exhibit Hall with Poster Viewing


4:50 Using Genome Sequencing in the Clinical Setting

Jason Merker, M.D., Ph.D., Co-Director, Stanford Clinical Genomics Service; Assistant Professor, Pathology, Stanford University School of Medicine

Health care providers are more frequently using genome and exome sequencing to evaluate patients with unexplained heritable disease. I will describe our experience establishing a clinical genomics service at an academic medical center. I will then discuss our initial efforts to use genome sequencing to identify the molecular etiology in patients with unexplained pediatric syndromes, heritable cardiovascular disease, heritable cancer predisposition, and heritable drug reactions

5:20 The NGS Cost Equation in Cancer Care: Are We at the Tipping Point?

German Pihan, M.D., Staff Pathologist & Director, Hematopathology Lab, Pathology, Beth Israel Deaconess Medical Center

The cost-effectiveness of exome sequencing (WES) in the diagnosis, risk assessment and, particularly, therapy of cancer remains undetermined. This talk will address this very important issue and propose guidelines for the development of data-driven algorithms predicting cost-effective implementation of WES.

5:50 Wine & Cheese Pairing Welcome Reception in the Exhibit Hall with Poster Viewing

6:50 Close of Day

Day 1 | Day 2 | Short Courses | Download Brochure 


7:15 am Registration

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


8:25 Chairperson’s Opening Remarks

Robert D. Daber, Ph.D., Director, Research and Development and Sequencing Operations, Bio-Reference Laboratories

8:30 Utility of Implementing Clinical NGS Assays as Standard of Care in Oncology

Helen Fernandes, Ph.D., Director, Molecular Pathology, Pathology & Laboratory Medicine, Weill Cornell Medical College

The presentation will address the practical processes that need to be adopted for a NGS-based assay to be run in a routine clinical laboratory. The topics will address specific challenges encountered from the preanalytical to the analytical and postanalytical phases of the process. Details on achieving libraries with optimal quality from various types of specimens will be discussed. Factors that affect the implementation of the analytical process and the variability encountered in the interpretation of variants will be highlighted. Strategies for recognizing and dealing with the barriers will be included.

9:00 Development and Implementation of Clinical NGS Testing: Assay Development and Informatic Challenges

Robert D. Daber, Ph.D., Director, R&D and Sequencing Operations, Bio-Reference Laboratories

As genomic technologies continue to advance and new bio-markers emerge, rapid NGS assay development becomes critical in the age of Precision Diagnostics. Here we will discuss emerging methods to capture important biological markers and their associated informatic challenges during both the development and implementation phases.

9:30 Implementation of Clinical Exome Sequencing

Avni B. Santani, Ph.D., Assistant Professor, Clinical Pathology, University of Pennsylvania School of Medicine; Scientific Director, Molecular Genetics Laboratory, The Children’s Hospital of Philadelphia

With the advent of next generation sequencing (NGS), diagnostic laboratories are faced with unprecedented challenges in incorporating this technology in the clinical setting. This presentation will provide a comprehensive overview on the key considerations for implementation of clinical exome sequencing including resource allocation, assay development, compliance, bioinformatics, data management, analysis and interpretation of data.

Vela Diagnostics10:00 Presentation to be Announced

10:30 Coffee Break in Exhibit Hall with Poster Viewing

PLENARY KEYNOTE SESSION: Click here for details 

12:40 pm Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:10 Close of Clinical NGS Assays

Day 1 | Day 2 | Short Courses | Download Brochure 

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2015 Brochure


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