Web Desc
One Million Genomes: From Discovery to Health
Organizer(s): Geoffrey S. Ginsburg, Teri Manolio and Patrick Boon Ooi Tan
Date: June 04 - 08, 2018
Location: Herrenhausen Palace, Hannover, Germany
Organized in collaboration with Volkswagen Foundation
Sponsored by Regeneron Pharmaceuticals, Inc. and Vertex Pharmaceuticals Incorporated
For important information on the coronavirus, please click here
Summary of Meeting:
The completion of the Human Genome Project in 2003 has catalyzed innovations in scientific research and in healthcare embodied in the term “precision medicine.” Across the globe, many nations are investing in large-scale national sequencing cohort programs, resulting in over one million human genomes sequenced and linked to dense phenotypic and clinical data. This Keystone Symposia conference will bring together scientists and leaders from healthcare and industry to discuss how to maximize the value of that investment for human health. It will assemble a unique and highly interdisciplinary international community to articulate how best to use these data-rich resources to provide novel insights into the biology of disease, tools for the management of patients and population health management strategies. The meeting will highlight challenges and potential solutions for germ-line and somatic sequencing programs and make recommendations for optimizing their impact on global health. The crucial role of free and open sharing and exchange of human variation data from these programs in allowing all of them to interpret novel variants and use them in clinical care will be emphasized. The symposium will focus on various scientific challenges for the field, including implementation science, the scalable data infrastructures and analyses required for impact on discovery and clinical care, and the value proposition for the investments that have been made in national programs. The leading edge of clinical impact of clinical sequencing will be highlighted in sessions on pharmacogenomics, and on developing novel therapeutics.
Global Health Travel Award Deadline: January 9 2018
Scholarship Deadline: February 21 2018
Discounted Abstract Deadline: February 21 2018
Abstract Deadline: March 27 2018
Discounted Registration Deadline: April 11 2018
Abstract submission is now closed. Registered attendees may bring a poster onsite. Please contact our office at +1 800-253-0685; +1 970-262-1230 or email info@keystonesymposia.org if you are interested.


Keystone Symposia thanks our Sponsor(s) for generously supporting this meeting:
Regeneron Pharmaceuticals, Inc.Vertex Pharmaceuticals Incorporated
We gratefully acknowledge additional support from these exhibitors at this conference:
Metabolon, Inc.
We gratefully acknowledge additional support for this conference from:
Color Genomics, Inc.
We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:

AstraZeneca

Fabric Genomics


Fabric Genomics
Keystone Symposia thanks the Volkswagen Foundation for hosting this conference:
in Cooperation with Volkswagen Foundation
Keystone Symposia thanks the following Contributors.
Color Genomics, Inc.
We gratefully acknowledge the generous grant for this conference provided by:

National Human Genome Research Institute (NHGRI)
Grant No. 1 R13 HG009984-01
Funding for this conference was made possible (in part) by 1 R13 HG009984-01 from the National Institutes of Health. The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.
We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:

Click here to view more of these organizations
Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:

Click here to view more of these organizations

Program

Monday, June 04 | 4:00PM - 8:00PM
Arrival and Registration
Room: Grand Mussmann Hotel, Tivoli Room


Monday, June 04 | 6:00PM - 8:00PM
Welcome Mixer
Room: Central-Hotel Kaiserhof
No registration fees are used to fund alcohol served at this function.

Tuesday, June 05 | 9:00AM - 10:00AM
Welcome and Keynote Address
Room: Auditorium

Speaker 1 of 2
* Geoffrey S. Ginsburg, Duke University, USA

Tuesday, June 05 | 9:00AM - 10:00AM
Welcome and Keynote Address
Room: Auditorium

Speaker 2 of 2
Sandi Deans, National Health Service England, UK
Delivering Genomic Medicine at a Population Level Across a Health System – The NHS Experience

Tuesday, June 05 | 10:00AM - 12:30PM
Large-Scale National Sequencing Programs: Implementation to
Impact

Room: Auditorium

Speaker 1 of 7
* Geoffrey S. Ginsburg, Duke University, USA

Tuesday, June 05 | 10:00AM - 12:30PM
Large-Scale National Sequencing Programs: Implementation to
Impact

Room: Auditorium

Speaker 2 of 7
Zhengming Chen, University of Oxford, UK
China Kadoorie Biobank of 0.5 Million People: Opportunities

Tuesday, June 05 | 10:00AM - 12:30PM
Large-Scale National Sequencing Programs: Implementation to
Impact

Room: Auditorium

Speaker 3 of 7
Andres Metspalu, University of Tartu, Estonia
From Biobanking to Precision Medicine

Tuesday, June 05 | 10:00AM - 12:30PM
Large-Scale National Sequencing Programs: Implementation to
Impact

Room: Auditorium

Speaker 4 of 7
Gad Rennert, Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Israel
Clalit's National Israeli 100K Genomes Personalized Medicine RCT

Tuesday, June 05 | 10:00AM - 12:30PM
Large-Scale National Sequencing Programs: Implementation to
Impact

Room: Auditorium


Coffee Break

Tuesday, June 05 | 10:00AM - 12:30PM
Large-Scale National Sequencing Programs: Implementation to
Impact

Room: Auditorium

Speaker 6 of 7
J. Michael Gaziano, VA Boston Healthcare System, USA
The Million Veteran Program: A Modern Mega-Cohort within a Large Healthcare System –
Progress, Challenges and Future Directions


Tuesday, June 05 | 10:00AM - 12:30PM
Large-Scale National Sequencing Programs: Implementation to
Impact

Room: Auditorium

Speaker 7 of 7
Mark Jonathan Caulfield, William Harvey Research Institute, Queen Mary University of London, UK
Genomics England: The 100,000 Genomes Project

Tuesday, June 05 | 11:00AM - 11:20AM
Poster Setup
Room: Ballroom


Tuesday, June 05 | 12:30PM - 2:00PM
Lunch
Room: Ballroom


Tuesday, June 05 | 1:30PM - 7:30PM
Poster Viewing
Room: Ballroom


Tuesday, June 05 | 1:30PM - 3:30PM
Poster Session 1
Room: Ballroom


Tuesday, June 05 | 3:30PM - 4:00PM
Coffee Available
Room: Foyer


Tuesday, June 05 | 4:00PM - 6:00PM
Somatic Sequencing Programs: Biological Insights and Diagnos
is

Room: Auditorium

Speaker 1 of 4
Peter Campbell, Wellcome Trust Sanger Institute, UK
Precision Oncology through International Collaboration and Data Sharing

Tuesday, June 05 | 4:00PM - 6:00PM
Somatic Sequencing Programs: Biological Insights and Diagnos
is

Room: Auditorium

Speaker 2 of 4
Pawel Stankiewicz, Baylor College of Medicine, USA
New Mutation, Mosaicism and Human Disease Traits

Tuesday, June 05 | 4:00PM - 6:00PM
Somatic Sequencing Programs: Biological Insights and Diagnos
is

Room: Auditorium

Speaker 3 of 4
* Patrick Boon Ooi Tan, Biomedical Research Council, Agency for Science Technology and Research, Singapore
Environment, Lifestyle and Genetics: Asian Perspectives and Implications for Precision Medicine

Tuesday, June 05 | 4:00PM - 6:00PM
Somatic Sequencing Programs: Biological Insights and Diagnos
is

Room: Auditorium

Speaker 4 of 4
Adria Jaume Roura Canalda, Nencki Institute of Experimental Biology of Polish Academy of Sciences, Poland
Short Talk: Somatic Mutation History of Glioblastoma Patients with Recurrent Tumors

Tuesday, June 05 | 6:00PM - 7:30PM
Social Hour with Lite Bites
Room: Ballroom
No registration fees are used to fund alcohol served at this function.

Wednesday, June 06 | 9:00AM - 12:00PM
Implementation Science for Genomic and Precision Medicine
Room: Auditorium

Speaker 1 of 7
* Teri A. Manolio, National Human Genome Research Institute, USA

Wednesday, June 06 | 9:00AM - 12:00PM
Implementation Science for Genomic and Precision Medicine
Room: Auditorium

Speaker 2 of 7
Robyn L. Ward, University of Queensland, Australia
Genomic Test Evaluation Frameworks: A Review

Wednesday, June 06 | 9:00AM - 12:00PM
Implementation Science for Genomic and Precision Medicine
Room: Auditorium

Speaker 3 of 7
John EL Wong, National University Health System, Singapore
Challenges of Precision Medicine Implementation in a High Volume Clinical Environment

Wednesday, June 06 | 9:00AM - 12:00PM
Implementation Science for Genomic and Precision Medicine
Room: Auditorium

Speaker 4 of 7
Dana C. Crawford, Case Western Reserve University, USA
Short Talk: Participating in and Return of Results from Precision Medicine Research: A Survey of Diverse Participants from
a Public Hospital in the United States


Wednesday, June 06 | 9:00AM - 12:00PM
Implementation Science for Genomic and Precision Medicine
Room: Auditorium


Coffee Break

Wednesday, June 06 | 9:00AM - 12:00PM
Implementation Science for Genomic and Precision Medicine
Room: Auditorium

Speaker 6 of 7
Kathryn North, University of Melbourne, Australia
Implementing Genomics into Healthcare: A National and Global Perspective

Wednesday, June 06 | 9:00AM - 12:00PM
Implementation Science for Genomic and Precision Medicine
Room: Auditorium

Speaker 7 of 7
Geoffrey S. Ginsburg, Duke University, USA
A National Network for Implementing Genomic Medicine in Practice (IGNITE)

Wednesday, June 06 | 9:00AM - 1:30PM
Poster Viewing
Room: Ballroom


Wednesday, June 06 | 12:00PM - 1:30PM
Lunch
Room: Ballroom


Wednesday, June 06 | 1:30PM - 3:30PM
Workshop: Rapid Interpretation of Genomes and Variant Callin
g
Room: Auditorium

Speaker 1 of 6
* Martin G. Reese, Fabric Genomics, USA

Wednesday, June 06 | 1:30PM - 3:30PM
Workshop: Rapid Interpretation of Genomes and Variant Callin
g
Room: Auditorium

Speaker 2 of 6
Atsuko Imai-Okazaki, National Center for Global Health and Medicine, Japan
Incorporation of Originally-Developed Statistical Genetics Methods into a Clinical Sequencing Platform to Improve Efficiency and Quality of Variant Annotation

Wednesday, June 06 | 1:30PM - 3:30PM
Workshop: Rapid Interpretation of Genomes and Variant Callin
g
Room: Auditorium

Speaker 3 of 6
Peter Bauer, Centogene AG, Germany
Clinical Benefit of Whole Genome Sequencing

Wednesday, June 06 | 1:30PM - 3:30PM
Workshop: Rapid Interpretation of Genomes and Variant Callin
g
Room: Auditorium

Speaker 4 of 6
Lina Ghaloul Gonzalez, University of Pittsburgh School of Medicine, USA
Novel Genomics Applications Reveal the Healthcare Eclipse and Lead to Better Clinical Outcomes

Wednesday, June 06 | 1:30PM - 3:30PM
Workshop: Rapid Interpretation of Genomes and Variant Callin
g
Room: Auditorium

Speaker 5 of 6
Natalie Jäger, German Cancer Research Center, Germany
Next-Generation Personalized Medicine for High-Risk Paediatric Cancer Patients - The INFORM Registry

Wednesday, June 06 | 1:30PM - 3:30PM
Workshop: Rapid Interpretation of Genomes and Variant Callin
g
Room: Auditorium

Speaker 6 of 6
* Francisco M. De La Vega, Fabric Genomics, Inc., USA
You Can't Interpret What You Don't See: Variant Calling from NGS Data for Clinical Applications

Wednesday, June 06 | 3:30PM - 4:00PM
Coffee Available
Room: Foyer


Wednesday, June 06 | 4:00PM - 6:00PM
International Data Resources Enabling Genomic Medicine
Room: Auditorium

Speaker 1 of 4
* Kathryn North, University of Melbourne, Australia

Wednesday, June 06 | 4:00PM - 6:00PM
International Data Resources Enabling Genomic Medicine
Room: Auditorium

Speaker 2 of 4
Daniel G. MacArthur, Broad Institute, USA
Databases for Rare Disease

Wednesday, June 06 | 4:00PM - 6:00PM
International Data Resources Enabling Genomic Medicine
Room: Auditorium

Speaker 3 of 4
Barbara C. Biedermann, University of Basel, Switzerland
Short Talk: COBEDIAS Empiric Clinical Profiling - A Digital Tool to Phenotype Disease

Wednesday, June 06 | 4:00PM - 6:00PM
International Data Resources Enabling Genomic Medicine
Room: Auditorium

Speaker 4 of 4
Kristjan Metsalu, University of Tartu, Estonia
Estonian Healthcare Information System

Wednesday, June 06 | 6:00PM - 7:30PM
Social Hour with Lite Bites
Room: Ballroom
No registration fees are used to fund alcohol served at this function.

Thursday, June 07 | 9:00AM - 12:15PM
The Actionable Genome
Room: Auditorium

Speaker 1 of 8
* Geoffrey S. Ginsburg, Duke University, USA

Thursday, June 07 | 9:00AM - 12:15PM
The Actionable Genome
Room: Auditorium

Speaker 2 of 8
Heidi Rehm, Harvard Medical School, USA
The Clinical Genome Resource

Thursday, June 07 | 9:00AM - 12:15PM
The Actionable Genome
Room: Auditorium

Speaker 3 of 8
James S. Ware, Imperial College London, UK
Variation in Cardiac Disease Genes: Location Matters

Thursday, June 07 | 9:00AM - 12:15PM
The Actionable Genome
Room: Auditorium

Speaker 4 of 8
John R. Giudicessi, Mayo Clinic, USA
Short Talk: Synergistic Use of Rare Disease and Public Exome Databases Question the Nature of Minor Non-Syndromic Long
QT Syndrome-Susceptibility Gene-Disease Relationships


Thursday, June 07 | 9:00AM - 12:15PM
The Actionable Genome
Room: Auditorium


Coffee Break

Thursday, June 07 | 9:00AM - 12:15PM
The Actionable Genome
Room: Auditorium

Speaker 6 of 8
Teri A. Manolio, National Human Genome Research Institute, USA
NHGRI/NIH Programs Developing Clinically Actionable Genomic Information

Thursday, June 07 | 9:00AM - 12:15PM
The Actionable Genome
Room: Auditorium

Speaker 7 of 8
Jill M. Hagenkord, MDisrupt, USA
Universal Screening for the CDC Tier 1 Genomic Conditions: Opportunities for Health Systems, Government Health Agencies and Sequencing Initiatives

Thursday, June 07 | 9:00AM - 12:15PM
The Actionable Genome
Room: Auditorium

Speaker 8 of 8
Franziska Singer, ETH Zurich, Switzerland
Short Talk: The Swiss Molecular Tumor Board: Comprehensive Molecular Cancer Diagnostics in the Clinics

Thursday, June 07 | 10:30AM - 10:50AM
Poster Setup
Room: Ballroom


Thursday, June 07 | 12:15PM - 1:45PM
Lunch
Room: Ballroom


Thursday, June 07 | 1:30PM - 7:30PM
Poster Viewing
Room: Ballroom


Thursday, June 07 | 1:30PM - 3:30PM
Poster Session 2
Room: Ballroom


Thursday, June 07 | 3:30PM - 4:00PM
Coffee Available
Room: Foyer


Thursday, June 07 | 4:00PM - 6:15PM
The Value Proposition for National Sequencing
Room: Auditorium

Speaker 1 of 6
* Maja Mockenhaupt, Universitätsklinikum Freiburg, Germany

Thursday, June 07 | 4:00PM - 6:15PM
The Value Proposition for National Sequencing
Room: Auditorium

Speaker 2 of 6
Lotte Steuten, Fred Hutchinson Cencer Research Center, USA
Multiplex NGS Testing in Cancer Care: An Economic Perspective on Hope, Hype and Value

Thursday, June 07 | 4:00PM - 6:15PM
The Value Proposition for National Sequencing
Room: Auditorium

Speaker 3 of 6
Sarah Wordsworth, University of Oxford, UK
The Health Economic Evidence for Whole Genome Sequencing

Thursday, June 07 | 4:00PM - 6:15PM
The Value Proposition for National Sequencing
Room: Auditorium

Speaker 4 of 6
Surakameth Mahasirimongkol, Ministry of Public Health, Thailand
Genomics Thailand: Precision Clinical Care on a National Scale

Thursday, June 07 | 4:00PM - 6:15PM
The Value Proposition for National Sequencing
Room: Auditorium

Speaker 5 of 6
Nusara Satproedprai, Medical Life Science Institute, Thailand
Short Talk: Genomics Thailand: Human Genome Database for Improvement of Health and Medical Services of Thailand

Thursday, June 07 | 4:00PM - 6:15PM
The Value Proposition for National Sequencing
Room: Auditorium

Speaker 6 of 6
Brett Doble, University of Oxford, UK
Short Talk: Using Routinely Collected 'Big Data' to Estimate Healthcare Costs for Rare Disease Patients: An Early Analysis of the UK 100,000 Genomes Project

Thursday, June 07 | 6:15PM - 7:45PM
Social Hour with Lite Bites
Room: Ballroom
No registration fees are used to fund alcohol served at this function.

Friday, June 08 | 9:00AM - 12:15PM
Pharmacogenomics: The Leading Edge of Genomics Impact in Med
icine

Room: Auditorium

Speaker 1 of 8
* Robyn L. Ward, University of Queensland, Australia

Friday, June 08 | 9:00AM - 12:15PM
Pharmacogenomics: The Leading Edge of Genomics Impact in Med
icine

Room: Auditorium

Speaker 2 of 8
Henk-Jan Guchelaar, Leiden University, Netherlands
The Ubiquitous Pharmacogenomics Project

Friday, June 08 | 9:00AM - 12:15PM
Pharmacogenomics: The Leading Edge of Genomics Impact in Med
icine

Room: Auditorium

Speaker 3 of 8
Mary V. Relling, St. Jude Children's Hospital, USA
Clinical Implementation of Pharmacogenetics

Friday, June 08 | 9:00AM - 12:15PM
Pharmacogenomics: The Leading Edge of Genomics Impact in Med
icine

Room: Auditorium

Speaker 4 of 8
Gabor Marth, University of Utah, USA
Short Talk: Precision Oncology of Advanced Disease: Insights into Refractory and Metastatic Cancers

Friday, June 08 | 9:00AM - 12:15PM
Pharmacogenomics: The Leading Edge of Genomics Impact in Med
icine

Room: Auditorium


Coffee Break

Friday, June 08 | 9:00AM - 12:15PM
Pharmacogenomics: The Leading Edge of Genomics Impact in Med
icine

Room: Auditorium

Speaker 6 of 8
Maja Mockenhaupt, Universitätsklinikum Freiburg, Germany
Using Genetics to Prevent Stevens Johnson Syndrome/Toxic Epidermal Necrolysis

Friday, June 08 | 9:00AM - 12:15PM
Pharmacogenomics: The Leading Edge of Genomics Impact in Med
icine

Room: Auditorium

Speaker 7 of 8
Jianjun Liu, Genome Institute of Singapore, Singapore
The SaPHIRE Program – Enabling Adverse Drug Reaction Research in Real Time

Friday, June 08 | 9:00AM - 12:15PM
Pharmacogenomics: The Leading Edge of Genomics Impact in Med
icine

Room: Auditorium

Speaker 8 of 8
Folefac Aminkeng, National University of Singapore/ Agency for Science, Technology & Research, Singapore
Short Talk: A missense variant of HFE is associated with Bleomycin-induced Lung Injury in South East Asian Hodgkin
Lymphoma Patients


Friday, June 08 | 9:00AM - 1:45PM
Poster Viewing
Room: Ballroom


Friday, June 08 | 12:15PM - 1:45PM
Lunch
Room: Ballroom


Friday, June 08 | 3:30PM - 4:00PM
Coffee Available
Room: Foyer


Friday, June 08 | 4:00PM - 6:15PM
Use of Large-Scale Bio-Clinical Resources for Drug Discovery
Room: Auditorium

Speaker 1 of 5
* Henk-Jan Guchelaar, Leiden University, Netherlands

Friday, June 08 | 4:00PM - 6:15PM
Use of Large-Scale Bio-Clinical Resources for Drug Discovery
Room: Auditorium

Speaker 2 of 5
Alan R. Shuldiner, Regeneron Pharmaceuticals, Inc, USA
Discovery of Novel Drug Targets: High-Throughput Genomics of 250,000 Exomes

Friday, June 08 | 4:00PM - 6:15PM
Use of Large-Scale Bio-Clinical Resources for Drug Discovery
Room: Auditorium

Speaker 3 of 5
Carolina Haefliger, AstraZeneca, Sweden
Transforming Drug Research and Development with Genomics

Friday, June 08 | 4:00PM - 6:15PM
Use of Large-Scale Bio-Clinical Resources for Drug Discovery
Room: Auditorium

Speaker 4 of 5
Jeong-Sun Seo, Seoul National University Bundang Hospital and Macrogen, South Korea
GenomeAsia 100K (GA100K) and Asian Reference Genome

Friday, June 08 | 4:00PM - 6:15PM
Use of Large-Scale Bio-Clinical Resources for Drug Discovery
Room: Auditorium

Speaker 5 of 5
Martin G. Reese, Fabric Genomics, USA
Accurate and Rapid WGS Interpretation – In Clinical Care

Friday, June 08 | 6:15PM - 6:30PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Room: Auditorium


Friday, June 08 | 6:30PM - 8:00PM
Social Hour with Lite Bites
Room: Ballroom
No registration fees are used to fund alcohol served at this function.

Saturday, June 09 | 10:24AM - 10:24AM
Departure


*Session Chair
†Invited, not yet responded.