TCGC: Clinical Genome ConferenceTCGC: Clinical Genome ConferenceTCGC: Clinical Genome Conference

TCGC: The Clinical Genome Conference

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Tuesday, June 10

7:30 am Conference Registration and Morning Coffee

 

Working with the Payer Process 

8:30 Chairperson’s Opening Remarks

Katherine Tynan, Ph.D., Business Development & Strategic Consulting for Diagnostics Companies, Tynan Consulting LLC

 

Keynote Presentation

8:45 Case Study on Working through the Payer Process

John PfeiferJohn Pfeifer, M.D., Ph.D., Vice Chair, Clinical Affairs, Pathology; Professor, Pathology and Immunology; Professor, Obstetrics and Gynecology, Washington University School of Medicine

If next-generation sequencing (NGS) is to become a part of patient care in routine clinical practice (whether in the setting of oncology or in the setting of inherited genetic disorders), labs that perform clinical NGS must be reimbursed for the testing they provide. Genomics and Pathology Services at Washington University in St. Louis (GPS@WUSTL) will be used as a case study of a national reference lab that has been successful in achieving high levels of reimbursement for the clinical NGS testing it performs, including from private payers. The reasons for GPS’s success will be discussed, including NGS test design, clinical focus of testing, use of different models for reimbursement and payer education.

9:30 Implementation of Clinical Cancer Genomics within an Integrated Healthcare System

Lincoln NadauldLincoln D. Nadauld, M.D., Ph.D., Director, Cancer Genomics, Intermountain Healthcare

Precision cancer medicine involves the detection of tumor-specific DNA alterations followed by treatment with therapeutics that specifically target the actionable mutations. Significant advances in genomic technologies have now rendered extended genomic analyses of human malignancies technologically and financially feasible for clinical adoption. Intermountain Healthcare, an integrated healthcare delivery system, is taking advantage of these advances to programmatically implement genomics into the regular treatment of cancer patients to improve clinical outcomes and reduce treatment costs.

 

10:00 PANEL DISCUSSION: Payer’s Dilemma: Evolution vs. Revolution

As falling genome sequencing costs help clinicians refine patient diagnoses and therapeutic approaches, new complexities arise over insurance coverage of such tests, classification by CPT codes and other reimbursement issues. Experts on this panel will discuss payer challenges and changes—both rapid and gradual—occurring alongside these advances in clinical genomics.

Katherine TynanModerator: Katherine Tynan, Ph.D., Business Development & Strategic Consulting for Diagnostics Companies, Tynan Consulting LLC

 

Panelists:

Jacqueline HuangJacqueline Huang, Senior Associate, Reimbursement Policy, Quorum Consulting, Inc.

 

Mike M. MoradianMike M. Moradian, Ph.D., Director of Operations and Molecular Genetics Scientist, Kaiser Permanente Southern California Regional Genetics Laboratory

 

Lincoln NadauldLincoln D. Nadauld, M.D., Ph.D., Director, Cancer Genomics, Intermountain Healthcare

 

John PfeiferJohn Pfeifer, M.D., Ph.D., Vice Chair, Clinical Affairs, Pathology; Professor, Pathology and Immunology; Professor, Obstetrics and Gynecology, Washington University School of Medicine

 

Rina WolfRina Wolf, Vice President of Commercialization Strategies, Consulting and Industry Affairs, XIFIN

 

10:45 Networking Coffee Break

11:15 Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings

Jimmy LinJimmy Lin, M.D., Ph.D., President, Rare Genomics Institute

Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to grow, much of the effort needed is functional analysis and clinical correlation. At RGI, we are building a comprehensive functional genomics platform that includes electronic health records, biobanking, data management, scientific idea crowdsourcing and contract research sourcing.

11:45 The MMRF CoMMpass Clinical Trial: A Longitudinal Observational Trial to Identify Genomic Predictors of Outcome in Multiple Myeloma

Jonathan KeatsJonathan J. Keats, Ph.D., Assistant Professor, Integrated Cancer Genomics Division, Translational Genomics Research Institute

The MMRF CoMMpass Clinical Trial is part of the personalized medicine initiative at the Multiple Myeloma Research Foundation. This observational trial involves the accrual and comprehensive analysis (shallow whole-genome sequencing, exome sequencing and RNA sequencing) of 1000 newly diagnosed patients with multiple myeloma. Each patient will be followed clinically for a minimum of 5 years and samples from 800 relapse events will be similarly analyzed. The goal of this trial is to identify molecular predictors of outcome and how different therapeutic interventions influence the genetics of different tumors.

12:15 pm Luncheon Presentation: An Integrated Molecular Medicine Platform for Interpreting and Reporting on Patient Genomic Profiles

Williams_ColinColin Williams, Ph.D., Director, Product Strategy, Thomson Reuters

Mick Correll, COO, GenoSpace

This talk will focus on a unique molecular medicine platform that can support genomic based research and clinical applications. Powered by the Thomson Reuters Clinical Genomics toolkit, comprising manually curated information to a breadth and depth that supports unique precision in clinical genomic decision making through powerful analytics, the GenoSpace platform delivers an enterprise level end to end workflow for clinical labs, from VCF to clinical report generation.  

 

Genome Variation and Clinical Utility 

1:45 Chairperson’s Remarks

Elizabeth Worthey, Ph.D., Assistant Professor, Pediatrics & Bioinformatics Program, Human & Molecular Genetics Center, Medical College of Wisconsin

 

Keynote Presentation

1:50 Lessons from the Clinical Sequencing Exploratory Research (CSER) Consortium: Genomic Medicine Implementation

Gail JarvikGail P. Jarvik, M.D., Ph.D., Head, Division of Medical Genetics, Arno G. Motulsky Endowed Chair in Medicine and Professor, Medicine and Genome Sciences, University of Washington Medical Center

Recent technologies have led to affordable genomic testing. However, implementation of genomic medicine faces many hurdles. The Clinical Sequencing Exploratory Research (CSER) Consortium, which includes nine genomic medicine projects, was formed to explore these challenges and opportunities. Dr. Jarvik is the PI of a CSER genomic medicine project and of the CSER coordinating center. She will focus on the frequency of exomic incidental findings, including those of the 56 genes recommended for incidental finding return by the ACMG. The CSER group has annotated the putatively pathogenic and novel variants of the Exome Variant Server (EVS) to estimate the rate of these in individuals of European and African ancestry. Experience with consenting and returning incidental findings will also be reviewed.

2:35 Decoding the Patient’s Genome: Clinical Use of Genome-Wide Sequencing Data

Elizabeth WortheyElizabeth Worthey, Ph.D., Assistant Professor, Pediatrics & Bioinformatics Program, Human & Molecular Genetics Center, Medical College of Wisconsin

Despite significant advances in our understanding of the genetic basis of disease, genome-wide identification and subsequent interpretation of the molecular changes that lead to human disease represent the most significant challenges in modern human genetics. Starting in 2009 at MCW, we have performed clinical WGS and WES to diagnose patients coming from across all clinical specialties. I will discuss findings, pros and cons in approach, challenges remaining and where we go next.

3:05 How Preventative Genetic Information Will Change the Way We Practice Medicine

Jill HagenkordJill Hagenkord, M.D., CMO, 23andMe, Inc.

A discussion of our evolving ability to efficiently and accurately gather preventative genetic information and incorporate it into medical practice as well as an examination of the challenges and opportunities this information presents.


3:35 Refreshment Break in the Exhibit Hall with Poster Viewing

Genome Interpretation Software Solutions: Software Spotlights (Sponsorship Opportunities Available)

Obtaining clinical genome data is rapidly becoming a reality, but analyzing and interpreting the data remains a bottleneck. While there are many commercial software solutions and pipelines for managing raw genome sequence data, providing the medical interpretation and delivering a clinical diagnosis will be the critical step in fulfilling the promise of genomic medicine. This session will showcase how genome data analysis companies are streamlining the genomic diagnostic pipeline through:

  • Transferring raw sequencing data
  • Interpreting genetic variations
  • Building new software and cloud-based analysis pipelines
  • Investigating the genetic basis of disease or drug response
  • Integrating with other clinical data systems
  • Creating new medical-grade databases
  • Reporting relevant clinical information in a physician-friendly manner
  • Continuous learning feedback


Biobase
4:15 Copy Number Variant Detection Using Next-Generation Sequencing: State of the Art 

Kaplun_AlexanderAlexander Kaplun, Ph.D., Field Applications Scientist, BIOBASE

This talk will provide a short review about the current state of the art in detection of larger variants that have an important role in many diseases such as haplotypes, indels, repeats, copy number variants (CNVs), structural variants (SVs) and fusion genes using NGS methods, and an outlook to their use for pharmacogenomic genotyping.

4:30 SAP HANA Enabling New Discoveries in Genomic Research

Singh_EnakshiEnakshi Singh, MSc, Product Manager, SAP HANA Platform for Healthcare, SAP Labs LLC

This presentation will provide an overview of how SAP’s in-memory technology, SAP HANA, is enabling researchers to perform real-time analytics on large-scale genomic variant data. Researchers can easily  integrate annotation data with genomic data to perform analyses and correlations across a variety of diverse data types.

5:00 Gene Fusion Identification via Targeted NGS: Experience with Early Adoption in the Clinical Environment

Rajesh Singh, Ph.D., Associate Professor, Molecular Diagnostics Laboratory, MD Anderson Cancer Center

Gene fusions are transformative events in many cancers, and represent an important class of actionable targets for targeted therapies.  As opposed to historical fusion-detection methods, target enrichment via Anchored Multiplex PCR allows for sequencing and detection of gene fusions from clinical sample types, without prior knowledge of breakpoints or fusion partners.  This talk will review our experience with adopting these assays in a clinical setting, and describe the utility of these assays in the CLIA environment.

5:30 Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis in Seconds 

Segal_MichaelMichael M. Segal, M.D., Ph.D., Chief Scientist, SimulConsult

Genome-phenome analysis combines processing of a genomic variant table and comparison of the patient’s findings to those of known diseases (“phenome”). In a study of 20 trios, accuracy was 100% when using trios with family-aware calling, and close to that if only probands were used. The gene pertinence metric calculated in the analysis was 99.9% for the causal genes. The analysis took seconds and was hypothesis-independent as to form of inheritance or number of causal genes. Similar benefits were found in gene discovery situations.

6:00 Welcome Reception in the Exhibit Hall with Poster Viewing

7:00 Close of Day

 

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Co-Sponsored by

Bio-IT World 

Current Sponsors

Biobase 

EMC 

Archer Enzymatics 

genia   

 SAP 

SimulConsult 

Thomson Reuters-Large 

Wafergen 

View All Sponsors 

View Media Partners 

Podcast 

Reimbursement of Clinical Sequencing Tests for Patient Care 

Translation of Genomic Data 

Impact on Research and Interpretation of Results 


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