The Clinical Genome Conference 2014

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June 10 - 12, 2014
FINAL AGENDA
CLINICALGENOMEconference
THE 3rd
ANNUAL
Mining the Genome for Medicine
ClinicalGenomeConference.com
TCGC
The unstoppable march of genomics into clinical practice continues.
In an ideal world, the expanding use of genomic tools will identify
disease before the onset of clinical symptoms and determine
individualized drug treatment leading to precision medicine. However,
many challenges remain for the successful translation of genomic
knowledge and technologies into health advances and actionable
patient care.
Join vital discussions of the applications, questions and solutions
surrounding clinical genome analysis.
KEYNOTE SPEAKERS
Atul Butte, M.D., Ph.D.
Division Chief and Associate Professor,
Stanford University School of Medicine;
Director, Center for Pediatric Bioinformatics,
Lucile Packard Children’s Hospital
David Galas, Ph.D.
Principal Scientist, Pacific Northwest
Diabetes Research Institute
Gail 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
John Pfeifer, M.D., Ph.D.
Vice Chair, Clinical Affairs, Pathology
and Immunology; Professor, Pathology and
Immunology, Washington University
John Quackenbush, Ph.D.
Professor, Dana-Farber Cancer Institute and
Harvard School of Public Health; Co-Founder
and CEO, GenoSpace
Topics Include:
• Working with the Payer Process
• Genome Variation and Clinical Utility
• NGS Is GuidingTherapies
• NGS Is Redefining Genomics
• Interpretation andTranslation to the Client
• Integrating Genomic Data into the Clinic
Corporate Sponsors: Co-Sponsored by:
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Pre-Conference Dinner Short Courses*
MONDAY, JUNE 9
1:30 pm Short Course Registration
2:00-5:30 (SCa) Hadoop and High-Dimensional Data Mining in the Era of the Clinical
Genome
The exponential decline in the cost of next generation sequencing is making it possible to discover rare
genetic variants that may explain rare childhood diseases and cancer.To detect these rare variants requires
the aggregation and analysis of genomics and clinical data at scale. Meanwhile, the advent of Hadoop,
a programming framework that supports the processing of large data sets in a distributed computing
environment, is driving the re-thinking and re-design of traditional data mining approaches. During this short
course, we will briefly review key Hadoop concepts, and highlight how Hadoop makes novel data mining
applications possible. Session speakers will share novel data mining strategies and approaches such as
topological data analysis (TDA) and massively parallel database processing to perform a spectrum of genomic
and clinical analyses.
What’s Hadoop and Does It Matter for My Genome Interpretation?
E Sasha Paegle, Senior Business Development Manager, Life Sciences, Isilon Storage Division, EMC²
It’s no surprise to hear the word “Hadoop” when discussing the latest data mining strategies. But what
is Hadoop? What are the advantages and disadvantages of Hadoop? During this short course we will
introduce key Hadoop concepts, highlight where Hadoop is used in biomedical informatics and discuss
how Hadoop makes it possible to introduce a new era of data mining applications for clinical genomics.
Genomics with Query: Re-ThinkingAnalytics for the Clinical Setting
Sarah Aerni, Ph.D., Senior Data Scientist, Pivotal
Effective analysis and understanding of patient genomes requires integration and processing of large and
diverse patient datasets. We will cover our work in speeding up genomics pipelines by leveraging Pivotal’s
Hadoop and MPP database technologies and conclude with our approaches in the analysis, integration and
visualization of genomics and clinical data.
Unfolding the Shape of Clinical Genomics
Eithon Cadag, Ph.D., Principal Data Scientist, Ayasdi
Comprehensive exploration of modern genomic data is challenging; new technologies provide myriad and
massive datasets. As these data find application in clinical domains, difficulty and urgency is multiplied.
In this session, we will discuss broad application of topological data analysis (TDA), a growing subfield of
mathematics, to address fundamental data problems in clinical genomics.
4:30 Short Course Registration
5:00-5:30 Shared Dinner Buffet
5:00-8:30 (SC1) Implementing Next-Generation Sequencing for Clinical Diagnostics
The rapid evolution of next-generation sequencing and the resulting move into routine clinical practice requires
arguably as much skill in navigating through new unchartered territories of clinical testing as the sequence
generation, bioinformatics and interpretation of variants. Significant challenges for clinical diagnostics include
the rapid evolution of platforms, protocols, kits and reagents as well as genome analysis, interpretation and
ethics.This short course provides practical information on implementing clinical sequencing, genomic data
analysis and interpretation, ethics and proficiency testing.
Next Generation of Operational Challenges for Implementing Clinical Genomics in Genetics
Laboratories
Mike M. Moradian, Ph.D., Director of Operations and Molecular Genetics Scientist, Kaiser Permanente
Southern California Regional Genetics Laboratory
Clinical genomics has become a reality in today’s complex and dynamic molecular pathology laboratory
setup, which requires detailed operational planning and oversight. Laboratories could face many challenges
when deciding to implement clinical genomics, including preanalytical (e.g., appropriate test orders,
testing platforms, staff training), analytical (e.g., assay validation, quality control, result generation) and
post-analytical (e.g., bioinformatics expertise, result interpretation, preparation of an appropriate report for
physician/clinic use). Of course, regulatory, compliance and billing/reimbursement issues are vital to the
survival of such operations. A brief description of these operational challenges and possible solutions will
be discussed.
Adventures in the Land of Clinical Sequencing: Implementation of Next-Generation
Sequencing-BasedTests in a CAP-Regulated Laboratory
Avni B. Santani, Ph.D., Assistant Professor, Clinical Pathology, Perelman School of Medicine, University of
Pennsylvania and Scientific Director, Molecular Genetics Lab
The learning objectives of this presentation include: 1) Outline the strategy geared towards practical
implementation of a genomics program in a molecular diagnostic laboratory, 2) Review the development
and validation of next-generation sequencing-based tests, including panels and whole-exome sequencing
and 3) Examine the impact of implementing NGS-based tests on the clinical laboratory.
Automation of Sample Preparation for Clinical NGS:The Requirements and the Challenges
for CLIA-Certified Clinical Laboratories
Martin Siaw, Ph.D., MB(ASCP) CM
, Associate Scientific Director, Advanced Sequencing, Quest Diagnostics
Nichols Institute
Sample preparation is an important component of any molecular testing that is being done in clinical
laboratories. With the increasing use of NGS for clinical testing comes the need to process increasingly
larger numbers of patient samples. Automation of sample preparation should be considered to be critical to
the workflow of diagnostic tests involving the use of NGS. My presentation will focus on the requirements
and challenges for CLIA-certified clinical laboratories.
Additional Instructors to be Announced
Dinner Short Courses*
WEDNESDAY, JUNE 11
6:00 pm-9:00 pm (SC2)VariantAnalysis and Contribution to Disease
Advances in NGS have provided unprecedented opportunities to mine genetic data from individuals to
populations.The subsequent identification of genetic variants which may be implicated in disease is an
important step in linking sequence data with disease and provides new approaches to improve human
health. In this course you will explore genetic data science, an emergent discipline that seeks to deliver better
answers from the data so that patients and their physicians can determine informed healthcare decisions.
Using Chromatin Contacts to Create High-Contiguity
GenomeAssemblies
Joshua N. Burton, Research Scientist, Jay Shendure Laboratory, Genome Sciences, University of
Washington
To study genetics and population variation in any new species, we must first sequence its genome. But
de novo genome assemblies created from short next-generation reads are highly fragmented. We have
developed a method to create chromosome-scale scaffolds in de novo genome assemblies by exploiting
chromatin interaction datasets. Our method is cost-effective, scalable and generalizable to any species.
Detecting Indels and StructuralVariants in the Clinical Setting
KaiYe, Ph.D., Research Assistant Professor, Genetics,The Genome Institute, Washington University
High-performance analysis tools for short indels and complex structural variants are demanded for clinical
applications. Currently medium-sized indels and structural variants are often missed by standard pipelines
like GATK but often contribute to disease. Here, the best practices for detecting those missing variants
are described.
ExtensiveVariation in Chromatin StatesAcross Humans
Maya Kasowski, Ph.D., Research Scientist, Mike Snyder Laboratory, Genetics, Stanford University
The majority of disease-associated variants lie outside protein-coding regions, suggesting a link between
variation in regulatory regions and disease predisposition. We studied differences in chromatin states
using five histone modifications, cohesin and CTCF in lymphoblastoid lines from 19 individuals of diverse
ancestry. We found extensive signal variation in regulatory regions, which often switch between active
and repressed states across individuals. Enhancer activity is particularly diverse among individuals,
whereas gene expression remains relatively stable. Chromatin variability shows genetic inheritance in
trios, correlates with genetic variation and population divergence and is associated with disruptions of
transcription factor binding motifs.
* Separate Registration Required
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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
»»KEYNOTE PRESENTATION
8:45 Case Study onWorking through the Payer Process
John 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 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.
Moderator: KatherineTynan, Ph.D., Business Development & Strategic Consulting for Diagnostics
Companies,Tynan Consulting LLC
Panelists:
Tonya Dowd, MPH, Director, Reimbursement Policy and Market Access, Quorum Consulting
Mike M. Moradian, Ph.D., Director of Operations and Molecular Genetics Scientist, Kaiser
Permanente Southern California Regional Genetics Laboratory
Rina Wolf, Vice President of Commercialization Strategies, Consulting and Industry Affairs, XIFIN
Additional Panelists to be Announced
10:45 Networking Coffee Break
11:15 Beyond Genomics: Preparing for theAvalanche of Post-Genomic
Clinical Findings
Jimmy 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.
11:45The MMRF CoMMpass ClinicalTrial:A Longitudinal Observational
Trial to Identify Genomic Predictors of Outcome in Multiple Myeloma
Jonathan J. Keats, Ph.D., Assistant Professor, Integrated Cancer Genomics Division,Translational
Genomics Research Institute
12:15 pm Luncheon Presentation (Sponsorship Opportunity Available)
or Enjoy Lunch onYour Own
Genome Variation and Clinical Utility
1:45 Chairperson’s Remarks
1:50 Lessons from the Clinical Sequencing Exploratory
Research (CSER) Consortium: Genomic Medicine
Implementation
Gail 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 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.
3:05AnalyzingVariants with a DTC Genetics Database
Brian Naughton, Ph.D., Founding Scientist, 23andMe, Inc.
Sequencing a genome results in dozens of potentially disease-causing variants (VUS). I
describe some examples of using the 23andMe database, including quick recontact of
participants, to determine if a variant is disease-causing.
3:35 Refreshment Break in the Exhibit Hall with PosterViewing
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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
4:15 Software Spotlight #1
4:30 Copy NumberVariant Detection Using Sponsored by
Next-Generation Sequencing: State of the Art
Alexander 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.
5:30 Pertinence Metric Enables Hypothesis-Independent
Sponsored by
Genome-Phenome Analysis in Seconds
Michael 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.
6:00Welcome Reception in the Exhibit Hall with PosterViewing
7:00 Close of Day
WEDNESDAY, JUNE 11
7:30 am Breakfast Presentation (Sponsorship Opportunity Available)
or Morning Coffee
NGS Is GuidingTherapies
8:35 Next-Generation SequencingApproaches for Identifying Patients
Who May Benefit from PARP InhibitorTherapy
Mitch Raponi, Ph.D., Senior Director and Head, Molecular Diagnostics, Clovis Oncology
The following questions will be addressed: What biomarkers should we be focusing on to
identify appropriate patients who will likely benefit from PARP inhibitors? How can we apply
next-generation sequencing technologies to identify all patients who will respond to the
PARP inhibitor rucaparib? What regulatory challenges are we faced with for approval of NGS
companion diagnostics?
9:05Whole-Genome andWhole-Transcriptome Sequencing to Guide
Therapy for Patients withAdvanced Cancer
Glen J. Weiss, M.D., MBA, Director, Clinical Research, CancerTreatment Centers of America
Treating advanced cancer with agents that target a single-cell surface receptor, up-regulated
or amplified gene product or mutated gene has met with some success; however, eventually
the cancer progresses. We used next-generation sequencing technologies (NGS) including
whole-genome sequencing (WGS), and where feasible, whole-transcriptome sequencing
(WTS) to identify genomic events and associated expression changes in advanced cancer
patients. While the initial effort was a slower process than anticipated due to a variety of
issues, we demonstrated the feasibility of using NGS in advanced cancer patients so that
treatments for patients with progressing tumors may be improved.This lecture will highlight
some of these challenges and where we are today in bringing NGS to patients.
9:35The SmartChipTE™Target Enrichment System for
Sponsored by
Clinical Next-Gen Sequencing
Gianluca Roma, MS MBA, Director, Product Management, WaferGen Biosystems
10:05 Coffee Break in the Exhibit Hall with PosterViewing
Data Mining
10:45Translating aTrillion Points of Data into
Therapies, Diagnostics and New Insights into Disease
Atul Butte, M.D., Ph.D., Division Chief and Associate Professor, Stanford
University School of Medicine; Director, Center for Pediatric Bioinformatics,
Lucile Packard Children’s Hospital; Co-Founder, Personalis and Numedii
There is an urgent need to translate genome-era discoveries
into clinical utility, but the difficulties in making bench-to-bedside
translations have been well described.The nascent field of translational
bioinformatics may help. Dr. Butte’s lab at Stanford builds and applies tools that
convert more than a trillion points of molecular, clinical and epidemiological data—
measured by researchers and clinicians over the past decade—into diagnostics,
therapeutics and new insights into disease. Dr. Butte, a bioinformatician and
pediatric endocrinologist, will highlight his lab’s work on using publicly available
molecular measurements to find new uses for drugs, including drug repositioning
for inflammatory bowel disease, discovering new treatable inflammatory
mechanisms of disease in type 2 diabetes and the evaluation of patients presenting
with whole genomes sequenced.
11:30 DGIdb – Mining the Druggable Genome
Malachi Griffith, Ph.D., Research Faculty, Genetics,The Genome Institute, Washington University
School of Medicine
In the era of high-throughput genomics, investigators are frequently presented with lists of
mutated or otherwise altered genes implicated in human disease. Numerous resources exist
to generate hypotheses about how such genomic events might be targeted therapeutically
or prioritized for drug development.The Drug-Gene Interaction database (DGIdb) mines these
resources and provides an interface for searching lists of genes against a compendium of
drug-gene interactions and potentially druggable genes. DGIdb can be accessed at dgidb.org.
12:00 pm Sponsored Presentation (Opportunity Available)
12:30 Luncheon Presentation (Sponsorship Opportunity Available)
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NGS Is Redefining Genomics
2:05 Extra-Cellular RNA: AWindow into New
Biological Phenomena
David Galas, Ph.D., Principal Scientist, Pacific Northwest Diabetes
Research Institute
In recent years it has become clear that various body fluids, outside
cells, contain a wide range of RNA molecules (exRNA). Included
are microRNAs, but many others types are represented as well.
Stable circulation of RNA is facilitated by binding to certain proteins and/or
protection within microvesicles and exosomes. While the function of cell-to-cell
communication for these molecules is implicated by new evidence, the roles of
most of them remain ambiguous. Recent evidence that microbial RNA is included
in the exRNA spectrum in plasma raises a number of intriguing questions and
heightens awareness of the need to understand the origins, fates and functions of
the wide range of circulating RNA.
2:50 Harnessing Single-Cell -Omics to Reveal Diversity and Mosaicism in
the Brain
Jennifer Erwin, Ph.D., Research Scientist, Fred H. Gage Laboratory, Genetics,The Salk Institute for
Biological Studies
It is now known that retrotransposition of LINE-1 mobile elements contributes genomic
diversity to mouse and human neurons.The unique composition of genetic mosaicism
present in the brain may contribute to disease and also the behavior differences observed
between genetically identical organisms. Because each individual neuron has the potential
to have a unique genome, single-cell approaches are essential to measure and observe this
genomic diversity, which is obscured in bulk samples. We will present data using single-cell
genome and transcriptome sequencing to characterize the nature and regulation of neuronal
genome mosaicism.
3:20 Sponsored Presentation (Opportunity Available)
3:50 Refreshment Break in the Exhibit Hall with PosterViewing
4:25Analysis of Germline GenomeVariation and MosaicVariants in
SomaticTissues Using Integrated NGS- and PCR-BasedTechnology
Alexander Eckehart Urban, Ph.D., Assistant Professor, Department of Psychiatry and Behavioral
Sciences and Department of Genetics (secondary), Center for Genomics and Personalized Medicine,
Stanford University School of Medicine
We are investigating genome variants that affect brain development and function. We study
germline variants that are associated with mental disorders and also the occurrence of
genomic mosaicism in somatic tissue. We are using both tissue culture models and primary
tissue samples in combination with next-generation sequencing-based approaches, targeted-
capture and whole-genome, respectively, as well as PCR-based methods such as standard
PCR, qPCR and digital droplet PCR.
4:55 From Big Data to Network Medicine
John Quackenbush, Ph.D., Professor, Dana-Farber Cancer Institute and
Harvard School of Public Health; Co-Founder and CEO, GenoSpace
The sequencing of the human genome promised to open new ways
of understanding human disease. New sequencing technologies,
which have driven the cost of whole-genome sequencing to a
few thousand dollars, have begun to make this vision a reality,
allowing not only an integrated view of disease but also new ways of modeling
the processes that drive it. We will describe methods that have begun to allow
the creation of disease-specific network models and to extend these to modeling
processes in individual patients.
5:40 Close of Day
5:30-6:00 Dinner Short Course Registration
6:00-9:00 Dinner Short Course (see page 2 for details)
THURSDAY, JUNE 12
7:30 am Breakfast Presentation (Sponsorship Opportunity Available)
or Morning Coffee
NGS References and Standards Are Not Static
8:35 Making Sense of Updates to the Human Reference Genome
Assembly
Valerie A. Schneider, Ph.D., Staff Scientist, National Center for Biotechnology Information, National
Library of Medicine, National Institutes of Health
The human reference genome assembly, whose sequence was first published more than
a decade ago, is not static.The Genome Reference Consortium (GRC) manages updates
to the reference assembly that reflect our improving understanding of genomic biology
and recently released a major assembly update, GRCh38. We will review updates to the
reference assembly and discuss their implications for sequence analysis, variant identification
and clinical interpretation. NCBI-developed tools that assist users with interrogation and
visualization of the assembly will also be discussed.
9:05 Genome in a Bottle: Reference Materials to EnableTranslation
Marc Salit, Ph.D., Group Leader, Biochemical Science and Multiplexed Biomolecular Science,
National Institute of Standards andTechnology (NIST)
The Genome in a Bottle Consortium has been developing reference materials, data
and methods to support translation of sequencing to regulated clinical practice.These
materials and data played a key role in the first FDA authorization of a “next-generation”
DNA sequencer, bringing this technology into a new era of clinical care. We will present
a perspective on the consortium projects and products, and a projection for future
genomic references.
9:35 StandardizingVariant Files for Clinical Diagnostics
Karen Eilbeck, Ph.D., Associate Professor, Biomedical Informatics, University of Utah
While variant files are the currency for personal genome information, there exists
much polymorphism in how the variant file formats are implemented, making sharing
and comparison difficult between labs.The CDC convened a work group to provide
recommendations for standard variant file practices for clinical diagnostics.This work and the
group’s recommendations will be presented.
10:05 Coffee Break in the Exhibit Hall with PosterViewing
Interpretation andTranslation to the Client
10:45 Making Meaning of Genomic Data: Clinical Interpretation and
Communication
Julianne M. O’Daniel, MS, CGC, Assistant Professor, Genetics, University of North Carolina at
Chapel Hill
Genome sequencing has been rapidly adopted for use in complex genetic diagnoses.
The ability to cast such a broad net for analysis, however, raises questions about clinical
interpretation and identifying “best fit” variant(s) based on current knowledge and phenotype
data. Decisions must be made about what to report and why in terms of diagnostic and/or
incidental findings. We will highlight salient issues in clinical interpretation from test definition
and variant interpretation to patient expectations and understanding.
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11:15 Interpreting and Communicating the “Healthy” Genome
Elissa Levin, MS, CGC, Head, Genomics and Integrative Health Innovations; Assistant Professor,
Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Mount Sinai
School of Medicine
Most genome sequencing to date has focused on rare disease or diagnostic odyssey cases.
But how will this technology impact the average person? And how are providers expected
to keep up with and accurately communicate genomic data in the context of their patients?
We will discuss some of the challenges with interpreting WGS in “healthy people” and some
approaches to positively impacting the delivery of genomic information to both providers
and patients.
Who Is the Client andWhat Should Be Returned?
Genome sequencing technologies have enabled greater and faster genetic data collection for
diagnostics—but what information should providers report to their clients and how should
they translate it to patient needs?This panel of genetic counseling experts will discuss
challenges of interpreting variants, incidental findings and other data, plus strategies for
facilitating communication between and ensuring comprehension by providers and patients.
Panelists:
Julianne M. O’Daniel, MS, CGC, Assistant Professor, Genetics, University of North Carolina at
Chapel Hill
Elissa Levin, MS, CGC, Head, Genomics and Integrative Health Innovations; Assistant Professor,
Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Mount Sinai
School of Medicine
12:30 pm Luncheon Presentation (Sponsorship Opportunity Available)
Integrating Genomic Data into the Clinic
1:35 Introducing Pharmacogenomics into Primary Care and Cardiology
Settings: HowWill Clinicians Respond?
Josh F. Peterson, M.D., MPH, Assistant Professor, Biomedical Informatics and Medicine, Vanderbilt
School of Medicine, Vanderbilt University
Digital representations of the human genome and its derivatives within electronic and
personal health records are a foundation for 21st-century medicine, creating a new biological
approach to more precise, targeted clinical decision making at the point of care. However,
numerous translational challenges have hindered adoption, involving technical infrastructure,
feasibility, demonstration of clinical effectiveness and sustainability.This talk will highlight how
the development and implementation of a large pharmacogenomics program has addressed
these challenges, highlighting the health information technology, laboratory and clinical
processes which enable the program, and describe how clinicians have responded when
presented with pharmacogenomics variants and the option of genome-tailored therapy for
their patients.
2:05 Genomics into the Clinic: Ethical and Policy Challenges
David Magnus, Ph.D., Director, Stanford Center for Biomedical Ethics;Thomas A. Raffin Professor,
Medicine and Biomedical Ethics; Professor, Pediatrics, Stanford University School of Medicine
The introduction of next-generation sequencing technology into clinical practice raises many
ethical, policy and practical challenges.These include challenges to informed consent, new
risks, privacy and issues of control over the disposition of information. In addition to normative
analysis, data from early adopters can help shed light on ways of meeting these challenges.
2:35 Sponsored Presentation (Opportunity Available)
3:05 Refreshment Break, Last Chance for Exhibit and PosterViewing
3:45 Clinical Genomics in the Era of the EHR: Challenges and
Opportunities
Keith Marsolo, Ph.D., Associate Professor, Division of Biomedical Informatics, Cincinnati Children’s
Hospital Medical Center and Associate Professor, Pediatrics, University of Cincinnati College of
Medicine
The electronic health record (EHR) provides potential benefits to the field of clinical genomics,
including the ability to return results to the provider, use genetic findings for decision support
purposes and serve as a source of phenotypic data. But not all EHR implementations are
created equal. We will provide an overview of the different ways that data can be captured
in the EHR, the role that EHR implementation plays on data quality and availability and the
potential for integration of genetic findings in today’s EHR. We will conclude by discussing the
minimum functional requirements that EHRs will need to satisfy in order to serve the field of
clinical genomics.
Digitized Data for Clinical Utility and Primary Care
To ensure that clinical genomic data is useful for the patients it is meant to serve, clinicians
must overcome various technical, policy and ethical hurdles while leveraging health
information technology.This panel of experts will discuss the electronic health record (EHR):
how to integrate genomic data in it, the nature of that data, EHR infrastructure, functional
requirements and more.
Panelists:
Fred Lorey, Ph.D., Representative, North American Council, International Society for Neonatal
Screening; Member, U.S. Department of Health and Human Services Secretary’s Advisory
Committee on Heritable Disorders in Newborns and Children (SACHDNC); former Acting Director,
California Genetic Disease Screening Program, California Department of Public Health
David Magnus, Ph.D., Director, Stanford Center for Biomedical Ethics;Thomas A. Raffin Professor,
Medicine and Biomedical Ethics; Professor, Pediatrics, Stanford University School of Medicine
Keith Marsolo, Ph.D., Associate Professor, Division of Biomedical Informatics, Cincinnati Children’s
Hospital Medical Center and Associate Professor, Pediatrics, University of Cincinnati College of
Medicine
Josh F. Peterson, M.D., MPH, Assistant Professor, Biomedical Informatics and Medicine, Vanderbilt
School of Medicine, Vanderbilt University
5:00 Close of Conference
MEDIA PARTNERS
Official Media Sponsor Lead Sponsoring Publications
Sponsoring Publications Web Parnters
Cover
Agenda
Sponsor & Exhibit
Opportunities
Short Courses
Click Here to
Register Online!
Needham, MA 02494
www.healthtech.com

CHI offers comprehensive packages that
can be customized to your budget and
objectives. Sponsorship allows you to achieve
your goals before, during, and long after the
event. Packages may include presentations,
exhibit space and branding, as well as the
use of delegate lists. Signing on early will
maximize your exposure to qualified decision-
makers and drive traffic to your website in the
coming months.
Podium Presentations — Available within
MainAgenda!
Showcase your solutions to a guaranteed, targeted audience
through a 15- or 30-minute presentation during a specific
program, breakfast, lunch, or a pre-conference workshop.
Package includes exhibit space, on-site branding, and
access to cooperative marketing efforts by CHI. Lunches are
delivered to attendees who are already seated in the main
session room. Presentations will sell out quickly! Sign on
early to secure your talk.
Invitation-OnlyVIP Dinner/Hospitality Suite
Select specific delegates from the pre-registration list
to attend a private function at an upscale restaurant or a
reception at the hotel. From extending the invitations, to
venue suggestions, CHI will deliver your prospects and help
you make the most of this invaluable opportunity.
Focus Group
CHI will gladly provide you the opportunity of running a
focus group on-site.This exclusive gathering can be useful to
conduct market research, collect feedback on a new product
idea, and collect marketing intelligence from industry experts
on a specific topic.
User Group Meeting/Custom Event
Co-locate your user group meeting or custom event. CHI will
help market the event, manage logistical operations, develop
the agenda, and more. CHI can handle the entirety of the
meeting or select aspects.
Exhibit
Exhibitors will enjoy facilitated networking opportunities with
qualified delegates, making it the perfect platform to launch
a new product, collect feedback, and generate new leads.
Exhibit space sells out quickly, so reserve yours today!
Additional branding and promotional opportunities are
available, including:
• ConferenceTote Bags
• Literature Distribution (Tote Bag Insert or Chair Drop)
• Badge Lanyards
• Program Guide Advertisement
• Padfolios and More...
sponsorship&exhibit
opportunities
For more information, please contact:
Jay Mulhern
Business Development Manager
781-972-1359 | jmulhern@healthtech.com
tcgc
Cover
Agenda
Sponsor & Exhibit
Opportunities
Short Courses
Click Here to
Register Online!
Needham, MA 02494
www.healthtech.com

tcgc
hotel&travel CONFERENCE VENUE & HOTEL:
Hotel Kabuki
1625 Post Street
San Francisco, CA 94115
Phone: 415.922.3200 | Reservation Line: 1-800-533-4567
Discounted Room Rate: $179 s/d
Discounted Room Rate Cut-off Date: May 13, 2014
Please visit our conference website to make your reservations online or call the hotel
directly to reserve your sleeping accommodations.You will need to identify yourself as
a Cambridge Healthtech Institute conference attendee to receive the discounted room
rate with the host hotel. Reservations made after the cut-off date or after the group
room block has been filled (whichever comes first) will be accepted on a space- and rate-
availability basis. Rooms are limited, so please book early.
We understand that you have many choices when making your travel arrangements,
and may ultimately decide to stay at another hotel. Please understand that reserving
your room in the CHI room block allows you to take full advantage of the conference
sessions, events and networking opportunities, and ensures that our staff will be
available to help should you have any issues with your accommodations.
Flight Discounts:
Special discounts have been established with American Airlines for this conference:
• Call American Airlines 800-433-1790 and use Conference code 7264AD.
• Go to aa.com/group and enter Conference code 7264AD in promotion discount box.
• Contact our designated travel agent, Rona Meizler, at 617-559-3735 or
rona.meizler@protravelinc.com.
Car Rental Discounts:
Special rental discounts have been established with Hertz for this conference.
• Call Hertz 800-654-3131 and use our Hertz Convention Number (CV): CV#04KL0005
• Go to hertz.com and use our Hertz Convention Number (CV): CV#04KL0005
information
Cover
Agenda
Sponsor & Exhibit
Opportunities
Short Courses
Click Here to
Register Online!
Needham, MA 02494
www.healthtech.com

ADDITIONAL REGISTRATION DETAILS
Each registration includes all conference
sessions, posters and exhibits, food
functions, and access to the conference
proceedings link.
Handicapped Equal Access: In accordance
with the ADA, Cambridge Healthtech
Institute is pleased to arrange special
accommodations for attendees with
special needs. All requests for such
assistance must be submitted in writing
to CHI at least 30 days prior to the start of
the meeting.
To view our Substitutions/
Cancellations Policy, go to
www.healthtech.com/regdetails
Video and or audio recording of any kind
is prohibited onsite at all CHI events.
Complimentarynewsdeliveredtoyourinbox
A series of diverse reports designed to
keep life science professionals informed
of the salient trends in pharmaceutical
technology, business, clinical
development, and therapeutic disease
markets.For a detailed list of reports, visit
InsightPharmaReports.com, or contact
Rose LaRaia, rlaraia@healthtech.com,
+1-781-972-5444.
Barnett is a recognized leader in clinical
education, training, and reference guides
for life science professionals involved in
the drug development process. For more
information, visit barnettinternational.com.
Cambridge Healthtech Associates™
(CHA™) leverages its extensive
network and unique collaborative
model in consulting, technology
evaluations and community-based
communication services to help
clients in the life sciences industry
commercialize and penetrate the
marketplace to increase revenue. Visit
www.chacorporate.com.
SHORT COURSES
Commercial Academic, Government, Hospital-affiliated
One short course $699 $399
Three short courses BEST VALUE $999 $699
CONFERENCE PRICING
(Includes access to 1 conference, excludes short courses)
Advance Registration Discount until May 2, 2014 $2199 $1099
Registrations after May 2, 2014, and on-site $2399 $1149
CONFERENCE DISCOUNTS
Poster Submission - Discount ($50 Off): Poster abstracts are due by May 2, 2014. Once your registration has been fully processed, we will send
an email containing a unique link allowing you to submit your poster abstract. If you do not receive your link within 5 business days, please contact
jring@healthtech.com. *CHI reserves the right to publish your poster title and abstract in various marketing materials and products.
Alumni Discount SAVE 20%: Cambridge Healthtech Institute (CHI) appreciates your past participation at Clinical Genome Conference. As a result
of the great loyalty you have shown us, we are pleased to extend to you the exclusive opportunity to save an additional 20% off the registration rate.
Register 3 - 4th is Free! Individuals must register for the same conference or conference combination and submit completed registration form
together for discount to apply.
Alumni Discount and Register 3 and 4th is Free Discount cannot be combined.
Group Discounts are Available! Special rates are available for multiple attendees from the same organization.For more information on group
discounts contact David Cunningham at 781-972-5472
If you are unable to attend but would like to purchase the TCGC: The Clinical Genome Conference CD for $500 (plus shipping), please visit
ClinicalGenomeConference.com. Massachusetts delivery will include sales tax.
How to Register: ClinicalGenomeConference.com
reg@healthtech.com • P: 781.972.5400 orToll-free in the U.S. 888.999.6288
Please use keycode CLG EF when registering
Subscribe to New Bulletins or the Weekly
Update Newsletter at Bio-ITWorld.com
Clinical Trials to the Clinic, subscribe at
ClinicalInformaticsNews.com
Hotel Kabuki, San Francisco, CA
June 10 - 12, 2014
CLINICALGENOMEconference
THE 3rd
ANNUAL
Cover
Agenda
Sponsor & Exhibit
Opportunities
Short Courses
Click Here to
Register Online!
Needham, MA 02494
www.healthtech.com

The Clinical Genome Conference 2014

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