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Final Agenda
Organized by
Cambridge Healthtech Institute ClinicalGenomeConference.com
Corporate Sponsor: Co-Sponsored by:
June 22-24, 2015 • Hotel Kabuki • San Francisco, CA
Join your peers and colleagues to share new findings and solutions for advancing the
applications of clinical genome medicine.
The Clinical Genome Conference sparks vital discussion of applications, questions and solutions surrounding
clinical genome analysis between scientists, physicians, diagnosticians, genetic counselors, bioinformaticists,
ethicists, regulators, insurers, lawyers and administrators.
Nathaniel Pearson, Ph.D.
New York Genome Center
Nathan D. Price, Ph.D.
Institute for Systems Biology
Laura J. van ’t Veer, Ph.D.
University of California,
San Francisco
• Big DataTranslating Healthcare
• Guiding Cancer Care
• Understanding “Wellness”
CLINICAL SEQUENCING:
A GOOD INVESTMENT?
KEYNOTE SPEAKERS
TCGC
THE 4th ANNUAL
CLINICALGENOME
CONFERENCE Mining the Genome for Medicine
PRE-CONFERENCE
SHORTCOURSE* CONFERENCEAGENDA
The reliability, robustness and reproducibility of next-generation sequencing platforms are no
longer questioned, making the unstoppable march of genomics into clinical practice a reality.
However, many challenges remain for the successful translation of genomic knowledge into
health advances and clinical utility.
Bio-IT World and Cambridge Healthtech Institute are again proud to host the Fourth Annual
TCGC:The Clinical Genome Conference, inviting stakeholders impacting clinical genomics to
share new findings and solutions for advancing the applications of clinical genome medicine.
MONDAY, JUNE 22
9:00 am Short Course Registration and Morning Coffee
10:00 am-1:00 pm Short Course
2:00 Conference Registration
3:00 Chairperson’s Opening Remarks
Eric Holland, M.D., Ph.D., Director, Solid Tumor Translational Research, Fred Hutchinson Cancer
Research Center
KEYNOTE SESSION
3:15Through the Keyhole to Genomic Wonderland: Common Sense, Beyond
Uncommon Nonsense
Nathaniel Pearson, Ph.D., Senior Director, Scientific Engagement & Public Outreach, New York
Genome Center
One hundred fifty years after Gregor Mendel first systematically probed genetic heritability, we
risk forgetting a key insight from his work, in our rush to broaden clinical genomics from urgent
diagnosis for a few to lifelong care for all. By fully embracing that insight now, we can wisely
bolster our health infrastructure for the long haul.
4:00 Integrating the Principles of Preventative and Personalized Medicine to
Advance Wellness
Nathan D. Price, Ph.D., Associate Director, Institute for Systems Biology
Future medicine will be more proactive and data-rich than anything before possible – and
will focus on maintaining and enhancing wellness more than just reacting to disease. We
have launched a large-scale 100K wellness project that integrates genomics, proteomics,
transcriptomics, microbiomes, clinical chemistries and wearable devices to monitor wellness
and disease. I will present results from our pilot study of 107 individuals, showing how this data
led to actionable findings for individuals to improve health and reduce risk drivers of disease.
4:45 Big Data inTranslational Cancer Genomics
Laura J. van ’t Veer, Ph.D., Director, Applied Genomics and Angela and Shu Kai Chan Endowed
Chair, Cancer Center, UCSF Helen Diller Family Comprehensive Cancer Center, University of
California, San Francisco
Molecular genomics contributes to the knowledge of who is at risk to develop cancer, how
external factors may influence this risk, whether tumors are likely to metastasize or not, and
which subtype of tumors will likely respond to what therapy. Dr. van ’t Veer’s current research
involves integrating various types of genomics data, including next-generation sequencing big
data, and is aimed at understanding the molecular basis for early response to therapy as a
surrogate for long-term survival prediction.
5:30 Welcome Reception in the Exhibit Hall with Poster Viewing
6:30 Close of Day
MONDAY, JUNE 22
9:00 am Short Course Registration
10:00 am-1:00 pm
Personal Genomics:Variant
Analysis and Interpretation
with Public Data
In this short course, we take a hands-on
approach to learning about the power and
limitations of current research, technology and
public data sources to interpret the human
genome of individuals outside of the clinical
diagnosis context. By interactively analyzing
my own exome and the genomes of other
public genomes, the short course orients
participants with programmatic analysis
and interpretation techniques applicable to
many contexts.
Learning Objectives:
1.	 How GWAS studies, price drops of
NGS sequencing and the sharing of
clinical classification of variants shape
personal genomics.
2.	 Pros and cons of SNP arrays, whole-
exome and whole-genome sequencing
in the interpretation of the genetics of
healthy individuals.
3.	 Public databases, websites and
visualization tools for interpreting
individuals’ genetic variants.
4.	 Hands-on case study of analyzing my
own exome and other shared individual
genomes, walking through the discrete
steps to annotate, filter and explore
variants of interest to an individual’s
outlook and wellness.
5.	 How to spot false-positive variants
at the aligned read level, and pull in
multiple annotation sources to assess
the bioinformatics evidence of a
variant’s pathogenicity.
Instructors:
Gabe Rudy, Vice President, Product &
Engineering, Golden Helix
KT Pickard, MBA, Founder, StartCodon
* Separate registration required
2 | ClinicalGenomeConference.com
TUESDAY, JUNE 23
7:00 am Breakfast Presentation (Sponsorship Opportunity Available) or
Morning Coffee
Genomics Guiding Cancer Care
8:00 Chairperson’s Remarks
Nathaniel Pearson, Ph.D., Senior Director, Scientific Engagement & Public
Outreach, New York Genome Center
»»8:05 FEATURED PRESENTATION: CIViC: CLINICAL
INTERPRETATION OF VARIANTS IN CANCER
Malachi Griffith, Ph.D., Associate Director, The Genome Institute; Assistant
Professor, Genetics, Washington University School of Medicine
To realize the potential of personalized medicine, genomic aberrations must
be placed in the context of therapeutic response and diagnostic or prognostic
associations. The evidence for these associations must be captured and
characterized so that we can achieve a principled consensus among genomic
experts, pathologists and oncologists on how best to interpret a genomic
alteration in a clinical context. To this end, we present CIViC as a forum for the
clinical interpretation of variants in cancer.
8:35 Identification of Independent PrimaryTumors and Intrapulmonary
Metastases Using DNA Rearrangements in Non-Small Cell Lung Cancer
George Vasmatzis, Ph.D., Assistant Professor, Laboratory Medicine & Pathology,
Mayo Clinic & Foundation
Distinguishing independent primary tumors from intrapulmonary metastases
in non-small cell carcinoma remains a clinical dilemma with significant clinical
implications. Using next-generation DNA sequencing, we developed a
chromosomal rearrangement-based approach to differentiate multiple primary
tumors from metastasis. A total of 41 tumor samples were sequenced. Lung
tumors predicted to be independent primary tumors based on different histologic
subtype did not share any genomic rearrangements. Concordance between
histology and genomic data occurred in the majority of cases. Discrepant cases
were resolved by genome sequencing.
9:05The Role of Genome Sequencing in Personalized Breast Cancer
Prevention
Weiva Sieh, M.D., Ph.D., Assistant Professor, Epidemiology, Department of Health
Research and Policy, Stanford University School of Medicine
The benefits of genome sequencing for guiding personalized preventive strategies
at the population level are uncertain. We evaluated the benefits and harms of
targeting preventive efforts to the subpopulation of women whose genomes
put them at highest risk of breast cancer using mathematical models for (1) 86
currently known breast cancer susceptibility alleles and (2) assuming complete
knowledge of all breast cancer genes. Our findings suggest that genome
sequencing has the potential to guide personalized breast cancer prevention, and
that the benefits will improve with increased understanding of the genetic etiology
of breast cancer.
9:35TalkTitle to be Announced Sponsored by
David Jackson, Ph.D., Chief Innovation Officer, Molecular Health
9:50 Sponsored Presentation (Opportunity Available)
10:05 Coffee Break in the Exhibit Hall with Poster Viewing
10:45 Integration of Genetic and Epigenetic Data to Understand Genetic
Risk of Prostate Cancer
Bogdan Pasaniuc, Ph.D., Assistant Professor, Pathology & Laboratory Medicine and
Human Genetics, David Geffen School of Medicine, University of California, Los
Angeles
Although genome-wide association studies have identified over 100 genetic loci
that increase risk for developing prostate cancer, their functional effects on risk
remain largely unknown. I present new approaches that integrate large-scale
genetic data with cell-type-specific epigenetic functional annotation data to gain
insights into the genetic architecture of prostate cancer risk.
11:15 Ultrasensitive Detection of CirculatingTumor DNA by Deep
Sequencing
Maximilian Diehn, M.D., Ph.D., Assistant Professor, Radiation Oncology, Stanford
Cancer Institute, Institute for Stem Cell Biology & Regenerative Medicine, Stanford
University
Circulating tumor DNA (ctDNA) represents a promising biomarker for detection and
monitoring of cancers. Work on clinical applications of next-generation sequencing-
based ctDNA quantitation will be discussed.
11:45 Sponsored Presentation (Opportunity Available)
12:15 pm Session Break
12:30 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy
Lunch onYour Own
Understanding “Wellness”
2:00 Chairperson’s Remarks
Malachi Griffith, Ph.D., Associate Director, The Genome Institute; Assistant
Professor, Genetics, Washington University School of Medicine
2:05 An Approach to Whole-Genome Sequence as a Lifelong Health
Resource
Sek Won Kong, M.D., Assistant Professor, Medicine/Informatics Program, Harvard
Medical School and Boston Children’s Hospital
Accumulated genomic variants provide a foundation of information in the context
of precision medicine, and an individual genome can be a resource for lifelong
well being. To achieve analytical validity of whole-genome sequence for clinical
use, a reproducible and accurate analysis and interpretation pipeline is required.
Carrier status of disease-causing mutations and pharmacogenomic variants are of
primary interest; however, estimating genetic liability for complex diseases using
established risk alleles might be informative. We demonstrate how complex trait
risk variants from an individual genome can be summarized and reported for the
general clinician and patients.
2:35 Whole-Genome Sequencing of the World’s Oldest People
Kristen Fortney, Ph.D., Research Scientist, Stuart K. Kim Laboratory, Developmental
Biology, Stanford University
Supercentenarians (110 years or older) are the world’s oldest people. We
sequenced the genomes of 17 supercentenarians to see if we could uncover the
genetic basis for their extreme longevity. From this small sample size, we were
unable to find rare protein-altering variants significantly associated with extreme
longevity. We have made the complete genomes of all 17 supercentenarians
available as a resource to assist discovery in future studies.
3:05 Sponsored Presentation (Opportunity Available)
3:35 Refreshment Break in the Exhibit Hall with Poster Viewing
4:15 Understanding Deep Metagenomics Sequencing in Clinical Samples
Arun Rawat, Ph.D., Bioinformatician II, Translational Genomics Research Institute
Decreasing cost of next-generation sequencing provides unique opportunities to
identify host-associated microbial communities in clinical samples. Our goal is to
understand the unknown etiologic agent in symptomatic patients to allow faster
clinical decisions. Prediction of undiagnosed disease is possible with high reliability
despite the variability in metagenomic samples and computational challenges.
4:45 Leveraging Germline Genomics to Improve an Individual’s Health
John S. Witte, Ph.D., Professor, Epidemiology & Biostatistics and Urology; Head,
Division of Genetic and Cancer Epidemiology; Associate Director, Institute
for Human Genetics; Co-Leader, Cancer Center Program in Cancer Genetics,
University of California, San Francisco
5:15 Interactive Breakout Discussion Groups
Wrap up the day with a moderated discussion group to brainstorm the translation
of genomic technologies into the clinic. Use this opportunity to share new findings,
propose solutions and develop collaborations with the diverse stakeholders
advancing genomic medicine.
6:00 Close of Day
WEDNESDAY, JUNE 24
7:00 am Breakfast Presentation (Sponsorship Opportunity Available) or
Morning Coffee
Clinical Sequencing: A Good Investment?
8:00 Chairperson’s Remarks
Katherine Tynan, Ph.D., Business Development & Strategic Consulting for
Diagnostics Companies, Tynan Consulting LLC
8:05 Estimating the Cost Effectiveness of Returning Incidental Findings
from Next-Generation Genomic Sequencing
Caroline Bennette, MPH, Ph.D., K12 Patient-Centered Outcomes Research Scholar,
Group Health Research Institute, University of Washington
Our team at the University of Washington recently developed a decision-analytic
policy model to evaluate the potential clinical and economic impact of returning
ACMG-recommended incidental findings from next-generation sequencing. We
found that returning incidental findings is likely cost effective for certain patient
populations receiving next-generation sequencing, but that screening of generally
healthy individuals is likely not cost effective based on current data and sequencing
costs. We describe the development of our policy model, summarize key findings
and discuss future research directions.
3 | ClinicalGenomeConference.com
MEDIA PARTNERS
Co-Sponsored by: Sponsoring Organization: Lead Sponsoring Publications: Web Partners:Sponsoring Publications:
8:35 Case Studies and Case Series of Genomic/Precision Medicine in a
Large Children’s Hospital
Stephen F. Kingsmore, MB, ChB, BAO, D.Sc., FRCPath, Executive Director,
Panomic Medicine, Children’s Mercy – Kansas City
Over 5400 single-gene diseases are known, affecting 4-8% of children. Genome
and exome sequencing are starting to change the approach to patient management
in these diseases, specifically regarding early etiologic diagnosis and “N-of-1-
genome” treatment strategies. Six large retrospective case studies have been
or soon will be published providing the first measurements of costs and benefits
of genomic/precision medicine in neurodevelopmental disorders and acutely
ill infants. Two individual patient cases illustrate the transformative potential of
genomic/precision medicine.
9:05The Evaluation of the Patient Presenting with Symptoms of
Obstructive Coronary Artery Disease: Clinical Validity, Clinical Utility and
Economic Utility of a Blood-BasedTest Incorporating Age, Sex and Gene
Expression
Mark Monane, M.D., CMO, CardioDx
Patients with symptoms suggestive of obstructive coronary artery disease (CAD)
frequently undergo unnecessary testing and procedures. Approximately $6.7
billion/year is spent on non-invasive and invasive testing in the U.S. in the non-
diabetic population with no prior revascularization or myocardial infarction, yet
some patients continue to be misdiagnosed. We present data on a blood test for
use in the evaluation of obstructive CAD among symptomatic patients. Data of
clinical validity (96% NPV), clinical utility (multiple change behavior studies) and
economic utility (cost implications) will be presented.
9:35 Sponsored Presentation (Opportunity Available)
10:05 Coffee Break in the Exhibit Hall with Poster Viewing
10:45 Myths and Realities of Clinical Genomics
David W. Moskowitz, M.D., Chairman, CEO, CMO & CSO, GenoMed, Inc.
Much of what passes for clinical genomics has been a waste of time and money,
guided by unrealistic clinical paradigms. This has been fine, because the healthcare
system is fundamentally anti-innovative, and is happy to waste the public’s time
and money. But for anybody who wants to capture marketshare, it is helpful to
review what does and doesn’t work.
11:15 PANEL DISCUSSION: Reimbursement for Genomic Sequencing
Services in aTime of Changing Healthcare Business Models
At a time when payers are asking themselves, “Why pay for sequencing services?”
come meet the people who are successfully crafting reimbursement arguments for
the payers in disease areas as diverse as inherited genetic diseases and oncology.
Find out the tactics that are working and why.
Moderator: Katherine Tynan, Ph.D., Tynan Consulting LLC
Panelists: Stephen F. Kingsmore, MB, ChB, BAO, D.Sc., Children’s Mercy – Kansas
City
David W. Moskowitz, M.D., GenoMed, Inc.
Additional Panelists to be Announced
12:00 pm Session Break
12:15 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy
Lunch onYour Own
Big Data Analytics for Healthcare
1:30 Chairperson’s Remarks
John E. Mattison, M.D., Chief Medical Information Officer, Assistant Medical
Director, Southern California Medical Group, Kaiser Permanente
»»1:35 FEATURED PRESENTATION: IMPACTING
HEALTHCARE WITH DATA ANALYSIS - PERSPECTIVES IN
DRUG DISCOVERY, GENOMICS AND WEARABLES
Somalee Datta, Ph.D., Director, Bioinformatics, Stanford Center for Genomics
& Personalized Medicine, Stanford University School of Medicine
In healthcare, we have an ever-increasing pile of data (aka, Data
Tsunami, our favorite cliché). In the last two decades, we have also made
tremendous strides in our computational bandwidth. We even found
Higgs! What are the challenges with our healthcare data given the existing
computational bandwidth?
2:05 Potential Clinical Genomics Applications in China
Bill Zheng, Ph.D., Director, Bioinformatics Section, Institute of Genetic Engineering,
Southern Medical University
Next-generation sequencing and microarrays are being extended to clinical
diagnosis. Disease can be diagnosed more efficiently and effectively, and the
Chinese market has huge innovations in translational medicine. We present the
marketing expansion in clinical medicine as well as in health management in China,
plus developments in data mining and data management.
2:35 Sponsored Presentation (Opportunity Available)
3:05 Refreshment Break in the Exhibit Hall with Poster Viewing
3:45 PatientsLikeMe: A Social Network and a Research Platform for
Patient-Reported Data
Marcia M. Nizzari, MS, Vice President, Engineering, PatientsLikeMe, Inc.
With over 300,000 users, 2,300 conditions and 25 million+ medical datapoints
collected, PatientsLikeMe provides a rich source of patient-reported phenotypic
data. Patient-reported data provide key input into many areas of healthcare; clinical,
payer, pharmaceutical and outcomes research will be positively disrupted by this
new source of valuable information. This talk covers existing and proposed uses
of those data to drive insights through integration with EHR, NGS data and other
sources of -omics data.
»»4:15 FEATURED PRESENTATION:THE ONCOSCAPE
APPLICATION IN CANCER BIG DATA ANALYSIS
Eric Holland, M.D., Ph.D., Director, Solid Tumor Translational Research, Fred
Hutchinson Cancer Research Center
We have developed a tool for visualization of combined clinical/molecular data
for cancer patients. This tool has been used to interrogate multiple public and
private datasets for molecular contributions to clinical behavior.
4:45 PANEL DISCUSSION: Analytics and Reality:The Looming Blurring
of Boundaries between Genome and Phenome in Health and Disease:
Implications for Ontologies and Landing Zones
To maximize the clinical utility of genomic sequencing data, clinicians must ensure
that both genomic and phenomic data is successfully integrated into the electronic
health record (EHR) and other patient-centered platforms. This in turn requires
understanding of technical infrastructure, security issues, policy requirements and
the nature of the data itself. Learn about these topics and more from this panel
of experts.
Panelists: Becky Swain, Entrepreneur & Founding Member, Cloud Security Alliance
John E. Mattison, M.D., Chief Medical Information Officer, Assistant Medical
Director, Southern California Medical Group, Kaiser Permanente
Additional Panelists to be Announced
5:30 Close of Conference
4 | ClinicalGenomeConference.com
HOTEL&TRAVEL
Conference Venue and Hotel:
Hotel Kabuki
1625 Post Street
San Francisco, CA 94115
Phone: 415-922-3200
Reservations: Go to the travel page of clinicalgenomeconference.com
Discounted Room Rate: $189 s/d
Discounted Room Rate Cut-off Date: May 25, 2015
Go to the travel page of clinicalgenomeconference.com
for additional info
Podium Presentations — Available within Main Agenda!
Showcase your solutions to a guaranteed, targeted audience. Package
includes a 15- or 30-minute podium presentation within the scientific
agenda, exhibit space, on-site branding, access to cooperative
marketing efforts by CHI, and more.
Breakfast & Luncheon Podium Presentations
Opportunity includes a 30-minute podium presentation. Meals are
delivered to delegates in main session room, which guarantees
audience and participation. A limited number of presentations are
available for sponsorship and they will sell out quickly. Sign on early to
secure your talk!
Invitation-Only VIP Dinner/Hospitality Suite
Sponsors will select their top prospects from the conference pre-
registration list for an evening of networking at the hotel or at a choice
local venue. CHI will extend invitations and deliver prospects, helping
you to make the most out of this invaluable opportunity. Evening will be
customized according to sponsor’s objectives i.e.:
• Purely social
• Focus group
• Reception style
• Plated dinner with specific conversation focus
Exhibit
Exhibitors will enjoy facilitated networking opportunities with qualified
delegates. Speak face-to-face with prospective clients and showcase
your latest product, service, or solution.
Additional branding and sponsorship opportunities available, including:
• Conference Tote Bags
• Badge Lanyards
• Program Guide Advertisement
• Literature Distribution (Tote Bag Insert or Chair Drop)
Looking for additional ways to drive leads to
your sales team?
CHI’s Lead Generation Programs will help you obtain more targeted,
quality leads throughout the year. We will mine our database of
800,000+ life science professionals to your specific needs. We
guarantee a minimum of 100 leads per program! Opportunities include:
• Whitepapers	
• Web Symposia
• Custom Market Research Surveys
• Podcasts
SPONSORSHIP,
EXHIBIT,ANDLEADGENERATION
OPPORTUNITIESCHI offers comprehensive sponsorship packages which include presentation opportunities, exhibit space, branding and networking with specific prospects.
Sponsorship allows you to achieve your objectives before, during, and long after the event. Any sponsorship can be customized to meet your company’s
needs and budget. Signing on early will allow you to maximize exposure to qualified decision-makers.
INFORMATION
For sponsorship, exhibit and lead generation information, please contact:
Elizabeth Lemelin | Business Development Manager
781-972-1342 | elemelin@healthtech.com
5 | ClinicalGenomeConference.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
http://www.healthtech.com/regdetails
Video and or audio recording of any kind
is prohibited onsite at all CHI events.
Please refer to the Registration Code below:
Cambridge Healthtech Institute
250 First Avenue, Suite 300, Needham, MA 02494
www.healthtech.com • Fax: 781-972-5425
Complimentary news delivered to your inbox
Subscribe to New Bulletins or the Weekly
Update Newsletter at Bio-ITWorld.com
Clinical Trials to the Clinic, subscribe at
ClinicalInformaticsNews.com
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
Adriana Randall, arandall@healthtech.com,
+1-781-972-5402.
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.
How to Register: ClinicalGenomeConference.com
reg@healthtech.com • P: 781.972.5400 or Toll-free in the U.S. 888.999.6288
Please use keycode
CLG F
when registering!
SHORT COURSE PRICING
		 Academic, Government,
	 Commercial	Hospital-affiliated
Short course	 $699	 $399
CONFERENCE PRICING
Early-Bird Registration Rates until February 20, 2015	 $1,849	 $929
Early Registration Rates until March 27, 2015	 $2,049	 $1,029
Advance Registration Rates until May 15, 2015	 $2,199	 $1,099
Standard Registration Rates after May 15, 2015, and on site	 $2,399	 $1,149
CONFERENCE DISCOUNTS
Poster Submission - Discount ($50 Off): Poster abstracts are due by May 15, 2015. 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.
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: Cambridge Healthtech Institute (CHI) appreciates your past participation at The 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.
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 Clinical Genome Conference CD for $495 (plus shipping), please visit
ClinicalGenomeConference.com. Massachusetts delivery will include sales tax.
Pricing and Registration Information
June 22-24, 2015
Hotel Kabuki
San Francisco, CA
TCGC
THE 4th ANNUAL
CLINICALGENOME
CONFERENCE Mining the Genome for Medicine

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TCGC The Clinical Genome Conference 2015

  • 1. Register by February 20 for Early-Bird Savings up to $550 Final Agenda Organized by Cambridge Healthtech Institute ClinicalGenomeConference.com Corporate Sponsor: Co-Sponsored by: June 22-24, 2015 • Hotel Kabuki • San Francisco, CA Join your peers and colleagues to share new findings and solutions for advancing the applications of clinical genome medicine. The Clinical Genome Conference sparks vital discussion of applications, questions and solutions surrounding clinical genome analysis between scientists, physicians, diagnosticians, genetic counselors, bioinformaticists, ethicists, regulators, insurers, lawyers and administrators. Nathaniel Pearson, Ph.D. New York Genome Center Nathan D. Price, Ph.D. Institute for Systems Biology Laura J. van ’t Veer, Ph.D. University of California, San Francisco • Big DataTranslating Healthcare • Guiding Cancer Care • Understanding “Wellness” CLINICAL SEQUENCING: A GOOD INVESTMENT? KEYNOTE SPEAKERS TCGC THE 4th ANNUAL CLINICALGENOME CONFERENCE Mining the Genome for Medicine
  • 2. PRE-CONFERENCE SHORTCOURSE* CONFERENCEAGENDA The reliability, robustness and reproducibility of next-generation sequencing platforms are no longer questioned, making the unstoppable march of genomics into clinical practice a reality. However, many challenges remain for the successful translation of genomic knowledge into health advances and clinical utility. Bio-IT World and Cambridge Healthtech Institute are again proud to host the Fourth Annual TCGC:The Clinical Genome Conference, inviting stakeholders impacting clinical genomics to share new findings and solutions for advancing the applications of clinical genome medicine. MONDAY, JUNE 22 9:00 am Short Course Registration and Morning Coffee 10:00 am-1:00 pm Short Course 2:00 Conference Registration 3:00 Chairperson’s Opening Remarks Eric Holland, M.D., Ph.D., Director, Solid Tumor Translational Research, Fred Hutchinson Cancer Research Center KEYNOTE SESSION 3:15Through the Keyhole to Genomic Wonderland: Common Sense, Beyond Uncommon Nonsense Nathaniel Pearson, Ph.D., Senior Director, Scientific Engagement & Public Outreach, New York Genome Center One hundred fifty years after Gregor Mendel first systematically probed genetic heritability, we risk forgetting a key insight from his work, in our rush to broaden clinical genomics from urgent diagnosis for a few to lifelong care for all. By fully embracing that insight now, we can wisely bolster our health infrastructure for the long haul. 4:00 Integrating the Principles of Preventative and Personalized Medicine to Advance Wellness Nathan D. Price, Ph.D., Associate Director, Institute for Systems Biology Future medicine will be more proactive and data-rich than anything before possible – and will focus on maintaining and enhancing wellness more than just reacting to disease. We have launched a large-scale 100K wellness project that integrates genomics, proteomics, transcriptomics, microbiomes, clinical chemistries and wearable devices to monitor wellness and disease. I will present results from our pilot study of 107 individuals, showing how this data led to actionable findings for individuals to improve health and reduce risk drivers of disease. 4:45 Big Data inTranslational Cancer Genomics Laura J. van ’t Veer, Ph.D., Director, Applied Genomics and Angela and Shu Kai Chan Endowed Chair, Cancer Center, UCSF Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco Molecular genomics contributes to the knowledge of who is at risk to develop cancer, how external factors may influence this risk, whether tumors are likely to metastasize or not, and which subtype of tumors will likely respond to what therapy. Dr. van ’t Veer’s current research involves integrating various types of genomics data, including next-generation sequencing big data, and is aimed at understanding the molecular basis for early response to therapy as a surrogate for long-term survival prediction. 5:30 Welcome Reception in the Exhibit Hall with Poster Viewing 6:30 Close of Day MONDAY, JUNE 22 9:00 am Short Course Registration 10:00 am-1:00 pm Personal Genomics:Variant Analysis and Interpretation with Public Data In this short course, we take a hands-on approach to learning about the power and limitations of current research, technology and public data sources to interpret the human genome of individuals outside of the clinical diagnosis context. By interactively analyzing my own exome and the genomes of other public genomes, the short course orients participants with programmatic analysis and interpretation techniques applicable to many contexts. Learning Objectives: 1. How GWAS studies, price drops of NGS sequencing and the sharing of clinical classification of variants shape personal genomics. 2. Pros and cons of SNP arrays, whole- exome and whole-genome sequencing in the interpretation of the genetics of healthy individuals. 3. Public databases, websites and visualization tools for interpreting individuals’ genetic variants. 4. Hands-on case study of analyzing my own exome and other shared individual genomes, walking through the discrete steps to annotate, filter and explore variants of interest to an individual’s outlook and wellness. 5. How to spot false-positive variants at the aligned read level, and pull in multiple annotation sources to assess the bioinformatics evidence of a variant’s pathogenicity. Instructors: Gabe Rudy, Vice President, Product & Engineering, Golden Helix KT Pickard, MBA, Founder, StartCodon * Separate registration required 2 | ClinicalGenomeConference.com
  • 3. TUESDAY, JUNE 23 7:00 am Breakfast Presentation (Sponsorship Opportunity Available) or Morning Coffee Genomics Guiding Cancer Care 8:00 Chairperson’s Remarks Nathaniel Pearson, Ph.D., Senior Director, Scientific Engagement & Public Outreach, New York Genome Center »»8:05 FEATURED PRESENTATION: CIViC: CLINICAL INTERPRETATION OF VARIANTS IN CANCER Malachi Griffith, Ph.D., Associate Director, The Genome Institute; Assistant Professor, Genetics, Washington University School of Medicine To realize the potential of personalized medicine, genomic aberrations must be placed in the context of therapeutic response and diagnostic or prognostic associations. The evidence for these associations must be captured and characterized so that we can achieve a principled consensus among genomic experts, pathologists and oncologists on how best to interpret a genomic alteration in a clinical context. To this end, we present CIViC as a forum for the clinical interpretation of variants in cancer. 8:35 Identification of Independent PrimaryTumors and Intrapulmonary Metastases Using DNA Rearrangements in Non-Small Cell Lung Cancer George Vasmatzis, Ph.D., Assistant Professor, Laboratory Medicine & Pathology, Mayo Clinic & Foundation Distinguishing independent primary tumors from intrapulmonary metastases in non-small cell carcinoma remains a clinical dilemma with significant clinical implications. Using next-generation DNA sequencing, we developed a chromosomal rearrangement-based approach to differentiate multiple primary tumors from metastasis. A total of 41 tumor samples were sequenced. Lung tumors predicted to be independent primary tumors based on different histologic subtype did not share any genomic rearrangements. Concordance between histology and genomic data occurred in the majority of cases. Discrepant cases were resolved by genome sequencing. 9:05The Role of Genome Sequencing in Personalized Breast Cancer Prevention Weiva Sieh, M.D., Ph.D., Assistant Professor, Epidemiology, Department of Health Research and Policy, Stanford University School of Medicine The benefits of genome sequencing for guiding personalized preventive strategies at the population level are uncertain. We evaluated the benefits and harms of targeting preventive efforts to the subpopulation of women whose genomes put them at highest risk of breast cancer using mathematical models for (1) 86 currently known breast cancer susceptibility alleles and (2) assuming complete knowledge of all breast cancer genes. Our findings suggest that genome sequencing has the potential to guide personalized breast cancer prevention, and that the benefits will improve with increased understanding of the genetic etiology of breast cancer. 9:35TalkTitle to be Announced Sponsored by David Jackson, Ph.D., Chief Innovation Officer, Molecular Health 9:50 Sponsored Presentation (Opportunity Available) 10:05 Coffee Break in the Exhibit Hall with Poster Viewing 10:45 Integration of Genetic and Epigenetic Data to Understand Genetic Risk of Prostate Cancer Bogdan Pasaniuc, Ph.D., Assistant Professor, Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles Although genome-wide association studies have identified over 100 genetic loci that increase risk for developing prostate cancer, their functional effects on risk remain largely unknown. I present new approaches that integrate large-scale genetic data with cell-type-specific epigenetic functional annotation data to gain insights into the genetic architecture of prostate cancer risk. 11:15 Ultrasensitive Detection of CirculatingTumor DNA by Deep Sequencing Maximilian Diehn, M.D., Ph.D., Assistant Professor, Radiation Oncology, Stanford Cancer Institute, Institute for Stem Cell Biology & Regenerative Medicine, Stanford University Circulating tumor DNA (ctDNA) represents a promising biomarker for detection and monitoring of cancers. Work on clinical applications of next-generation sequencing- based ctDNA quantitation will be discussed. 11:45 Sponsored Presentation (Opportunity Available) 12:15 pm Session Break 12:30 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch onYour Own Understanding “Wellness” 2:00 Chairperson’s Remarks Malachi Griffith, Ph.D., Associate Director, The Genome Institute; Assistant Professor, Genetics, Washington University School of Medicine 2:05 An Approach to Whole-Genome Sequence as a Lifelong Health Resource Sek Won Kong, M.D., Assistant Professor, Medicine/Informatics Program, Harvard Medical School and Boston Children’s Hospital Accumulated genomic variants provide a foundation of information in the context of precision medicine, and an individual genome can be a resource for lifelong well being. To achieve analytical validity of whole-genome sequence for clinical use, a reproducible and accurate analysis and interpretation pipeline is required. Carrier status of disease-causing mutations and pharmacogenomic variants are of primary interest; however, estimating genetic liability for complex diseases using established risk alleles might be informative. We demonstrate how complex trait risk variants from an individual genome can be summarized and reported for the general clinician and patients. 2:35 Whole-Genome Sequencing of the World’s Oldest People Kristen Fortney, Ph.D., Research Scientist, Stuart K. Kim Laboratory, Developmental Biology, Stanford University Supercentenarians (110 years or older) are the world’s oldest people. We sequenced the genomes of 17 supercentenarians to see if we could uncover the genetic basis for their extreme longevity. From this small sample size, we were unable to find rare protein-altering variants significantly associated with extreme longevity. We have made the complete genomes of all 17 supercentenarians available as a resource to assist discovery in future studies. 3:05 Sponsored Presentation (Opportunity Available) 3:35 Refreshment Break in the Exhibit Hall with Poster Viewing 4:15 Understanding Deep Metagenomics Sequencing in Clinical Samples Arun Rawat, Ph.D., Bioinformatician II, Translational Genomics Research Institute Decreasing cost of next-generation sequencing provides unique opportunities to identify host-associated microbial communities in clinical samples. Our goal is to understand the unknown etiologic agent in symptomatic patients to allow faster clinical decisions. Prediction of undiagnosed disease is possible with high reliability despite the variability in metagenomic samples and computational challenges. 4:45 Leveraging Germline Genomics to Improve an Individual’s Health John S. Witte, Ph.D., Professor, Epidemiology & Biostatistics and Urology; Head, Division of Genetic and Cancer Epidemiology; Associate Director, Institute for Human Genetics; Co-Leader, Cancer Center Program in Cancer Genetics, University of California, San Francisco 5:15 Interactive Breakout Discussion Groups Wrap up the day with a moderated discussion group to brainstorm the translation of genomic technologies into the clinic. Use this opportunity to share new findings, propose solutions and develop collaborations with the diverse stakeholders advancing genomic medicine. 6:00 Close of Day WEDNESDAY, JUNE 24 7:00 am Breakfast Presentation (Sponsorship Opportunity Available) or Morning Coffee Clinical Sequencing: A Good Investment? 8:00 Chairperson’s Remarks Katherine Tynan, Ph.D., Business Development & Strategic Consulting for Diagnostics Companies, Tynan Consulting LLC 8:05 Estimating the Cost Effectiveness of Returning Incidental Findings from Next-Generation Genomic Sequencing Caroline Bennette, MPH, Ph.D., K12 Patient-Centered Outcomes Research Scholar, Group Health Research Institute, University of Washington Our team at the University of Washington recently developed a decision-analytic policy model to evaluate the potential clinical and economic impact of returning ACMG-recommended incidental findings from next-generation sequencing. We found that returning incidental findings is likely cost effective for certain patient populations receiving next-generation sequencing, but that screening of generally healthy individuals is likely not cost effective based on current data and sequencing costs. We describe the development of our policy model, summarize key findings and discuss future research directions. 3 | ClinicalGenomeConference.com
  • 4. MEDIA PARTNERS Co-Sponsored by: Sponsoring Organization: Lead Sponsoring Publications: Web Partners:Sponsoring Publications: 8:35 Case Studies and Case Series of Genomic/Precision Medicine in a Large Children’s Hospital Stephen F. Kingsmore, MB, ChB, BAO, D.Sc., FRCPath, Executive Director, Panomic Medicine, Children’s Mercy – Kansas City Over 5400 single-gene diseases are known, affecting 4-8% of children. Genome and exome sequencing are starting to change the approach to patient management in these diseases, specifically regarding early etiologic diagnosis and “N-of-1- genome” treatment strategies. Six large retrospective case studies have been or soon will be published providing the first measurements of costs and benefits of genomic/precision medicine in neurodevelopmental disorders and acutely ill infants. Two individual patient cases illustrate the transformative potential of genomic/precision medicine. 9:05The Evaluation of the Patient Presenting with Symptoms of Obstructive Coronary Artery Disease: Clinical Validity, Clinical Utility and Economic Utility of a Blood-BasedTest Incorporating Age, Sex and Gene Expression Mark Monane, M.D., CMO, CardioDx Patients with symptoms suggestive of obstructive coronary artery disease (CAD) frequently undergo unnecessary testing and procedures. Approximately $6.7 billion/year is spent on non-invasive and invasive testing in the U.S. in the non- diabetic population with no prior revascularization or myocardial infarction, yet some patients continue to be misdiagnosed. We present data on a blood test for use in the evaluation of obstructive CAD among symptomatic patients. Data of clinical validity (96% NPV), clinical utility (multiple change behavior studies) and economic utility (cost implications) will be presented. 9:35 Sponsored Presentation (Opportunity Available) 10:05 Coffee Break in the Exhibit Hall with Poster Viewing 10:45 Myths and Realities of Clinical Genomics David W. Moskowitz, M.D., Chairman, CEO, CMO & CSO, GenoMed, Inc. Much of what passes for clinical genomics has been a waste of time and money, guided by unrealistic clinical paradigms. This has been fine, because the healthcare system is fundamentally anti-innovative, and is happy to waste the public’s time and money. But for anybody who wants to capture marketshare, it is helpful to review what does and doesn’t work. 11:15 PANEL DISCUSSION: Reimbursement for Genomic Sequencing Services in aTime of Changing Healthcare Business Models At a time when payers are asking themselves, “Why pay for sequencing services?” come meet the people who are successfully crafting reimbursement arguments for the payers in disease areas as diverse as inherited genetic diseases and oncology. Find out the tactics that are working and why. Moderator: Katherine Tynan, Ph.D., Tynan Consulting LLC Panelists: Stephen F. Kingsmore, MB, ChB, BAO, D.Sc., Children’s Mercy – Kansas City David W. Moskowitz, M.D., GenoMed, Inc. Additional Panelists to be Announced 12:00 pm Session Break 12:15 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch onYour Own Big Data Analytics for Healthcare 1:30 Chairperson’s Remarks John E. Mattison, M.D., Chief Medical Information Officer, Assistant Medical Director, Southern California Medical Group, Kaiser Permanente »»1:35 FEATURED PRESENTATION: IMPACTING HEALTHCARE WITH DATA ANALYSIS - PERSPECTIVES IN DRUG DISCOVERY, GENOMICS AND WEARABLES Somalee Datta, Ph.D., Director, Bioinformatics, Stanford Center for Genomics & Personalized Medicine, Stanford University School of Medicine In healthcare, we have an ever-increasing pile of data (aka, Data Tsunami, our favorite cliché). In the last two decades, we have also made tremendous strides in our computational bandwidth. We even found Higgs! What are the challenges with our healthcare data given the existing computational bandwidth? 2:05 Potential Clinical Genomics Applications in China Bill Zheng, Ph.D., Director, Bioinformatics Section, Institute of Genetic Engineering, Southern Medical University Next-generation sequencing and microarrays are being extended to clinical diagnosis. Disease can be diagnosed more efficiently and effectively, and the Chinese market has huge innovations in translational medicine. We present the marketing expansion in clinical medicine as well as in health management in China, plus developments in data mining and data management. 2:35 Sponsored Presentation (Opportunity Available) 3:05 Refreshment Break in the Exhibit Hall with Poster Viewing 3:45 PatientsLikeMe: A Social Network and a Research Platform for Patient-Reported Data Marcia M. Nizzari, MS, Vice President, Engineering, PatientsLikeMe, Inc. With over 300,000 users, 2,300 conditions and 25 million+ medical datapoints collected, PatientsLikeMe provides a rich source of patient-reported phenotypic data. Patient-reported data provide key input into many areas of healthcare; clinical, payer, pharmaceutical and outcomes research will be positively disrupted by this new source of valuable information. This talk covers existing and proposed uses of those data to drive insights through integration with EHR, NGS data and other sources of -omics data. »»4:15 FEATURED PRESENTATION:THE ONCOSCAPE APPLICATION IN CANCER BIG DATA ANALYSIS Eric Holland, M.D., Ph.D., Director, Solid Tumor Translational Research, Fred Hutchinson Cancer Research Center We have developed a tool for visualization of combined clinical/molecular data for cancer patients. This tool has been used to interrogate multiple public and private datasets for molecular contributions to clinical behavior. 4:45 PANEL DISCUSSION: Analytics and Reality:The Looming Blurring of Boundaries between Genome and Phenome in Health and Disease: Implications for Ontologies and Landing Zones To maximize the clinical utility of genomic sequencing data, clinicians must ensure that both genomic and phenomic data is successfully integrated into the electronic health record (EHR) and other patient-centered platforms. This in turn requires understanding of technical infrastructure, security issues, policy requirements and the nature of the data itself. Learn about these topics and more from this panel of experts. Panelists: Becky Swain, Entrepreneur & Founding Member, Cloud Security Alliance John E. Mattison, M.D., Chief Medical Information Officer, Assistant Medical Director, Southern California Medical Group, Kaiser Permanente Additional Panelists to be Announced 5:30 Close of Conference 4 | ClinicalGenomeConference.com
  • 5. HOTEL&TRAVEL Conference Venue and Hotel: Hotel Kabuki 1625 Post Street San Francisco, CA 94115 Phone: 415-922-3200 Reservations: Go to the travel page of clinicalgenomeconference.com Discounted Room Rate: $189 s/d Discounted Room Rate Cut-off Date: May 25, 2015 Go to the travel page of clinicalgenomeconference.com for additional info Podium Presentations — Available within Main Agenda! Showcase your solutions to a guaranteed, targeted audience. Package includes a 15- or 30-minute podium presentation within the scientific agenda, exhibit space, on-site branding, access to cooperative marketing efforts by CHI, and more. Breakfast & Luncheon Podium Presentations Opportunity includes a 30-minute podium presentation. Meals are delivered to delegates in main session room, which guarantees audience and participation. A limited number of presentations are available for sponsorship and they will sell out quickly. Sign on early to secure your talk! Invitation-Only VIP Dinner/Hospitality Suite Sponsors will select their top prospects from the conference pre- registration list for an evening of networking at the hotel or at a choice local venue. CHI will extend invitations and deliver prospects, helping you to make the most out of this invaluable opportunity. Evening will be customized according to sponsor’s objectives i.e.: • Purely social • Focus group • Reception style • Plated dinner with specific conversation focus Exhibit Exhibitors will enjoy facilitated networking opportunities with qualified delegates. Speak face-to-face with prospective clients and showcase your latest product, service, or solution. Additional branding and sponsorship opportunities available, including: • Conference Tote Bags • Badge Lanyards • Program Guide Advertisement • Literature Distribution (Tote Bag Insert or Chair Drop) Looking for additional ways to drive leads to your sales team? CHI’s Lead Generation Programs will help you obtain more targeted, quality leads throughout the year. We will mine our database of 800,000+ life science professionals to your specific needs. We guarantee a minimum of 100 leads per program! Opportunities include: • Whitepapers • Web Symposia • Custom Market Research Surveys • Podcasts SPONSORSHIP, EXHIBIT,ANDLEADGENERATION OPPORTUNITIESCHI offers comprehensive sponsorship packages which include presentation opportunities, exhibit space, branding and networking with specific prospects. Sponsorship allows you to achieve your objectives before, during, and long after the event. Any sponsorship can be customized to meet your company’s needs and budget. Signing on early will allow you to maximize exposure to qualified decision-makers. INFORMATION For sponsorship, exhibit and lead generation information, please contact: Elizabeth Lemelin | Business Development Manager 781-972-1342 | elemelin@healthtech.com 5 | ClinicalGenomeConference.com
  • 6. 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 http://www.healthtech.com/regdetails Video and or audio recording of any kind is prohibited onsite at all CHI events. Please refer to the Registration Code below: Cambridge Healthtech Institute 250 First Avenue, Suite 300, Needham, MA 02494 www.healthtech.com • Fax: 781-972-5425 Complimentary news delivered to your inbox Subscribe to New Bulletins or the Weekly Update Newsletter at Bio-ITWorld.com Clinical Trials to the Clinic, subscribe at ClinicalInformaticsNews.com 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 Adriana Randall, arandall@healthtech.com, +1-781-972-5402. 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. How to Register: ClinicalGenomeConference.com reg@healthtech.com • P: 781.972.5400 or Toll-free in the U.S. 888.999.6288 Please use keycode CLG F when registering! SHORT COURSE PRICING Academic, Government, Commercial Hospital-affiliated Short course $699 $399 CONFERENCE PRICING Early-Bird Registration Rates until February 20, 2015 $1,849 $929 Early Registration Rates until March 27, 2015 $2,049 $1,029 Advance Registration Rates until May 15, 2015 $2,199 $1,099 Standard Registration Rates after May 15, 2015, and on site $2,399 $1,149 CONFERENCE DISCOUNTS Poster Submission - Discount ($50 Off): Poster abstracts are due by May 15, 2015. 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. 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: Cambridge Healthtech Institute (CHI) appreciates your past participation at The 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. 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 Clinical Genome Conference CD for $495 (plus shipping), please visit ClinicalGenomeConference.com. Massachusetts delivery will include sales tax. Pricing and Registration Information June 22-24, 2015 Hotel Kabuki San Francisco, CA TCGC THE 4th ANNUAL CLINICALGENOME CONFERENCE Mining the Genome for Medicine