Keystone Symposia

Herrenhausen Palace Floorplan

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This meeting took place in 2018

Here are the related meetings in 2020:
Beyond a Million Genomes: From Discovery to Precision Health (A4)

For a complete list of the meetings for the upcoming/current season, see our meeting list, or search for a meeting.

One Million Genomes: From Discovery to Health (G1)

Organizer(s) Geoffrey S. Ginsburg, Teri Manolio and Patrick Boon Ooi Tan
June 4—8, 2018
Herrenhausen Palace • Hannover, Germany
Discounted Abstract Deadline: Feb 21, 2018
Abstract Deadline: Mar 27, 2018
Scholarship Deadline: Feb 21, 2018
Discounted Registration Deadline: Apr 11, 2018

Organized in collaboration with Volkswagen Foundation
Sponsored by Regeneron Pharmaceuticals, Inc. and Vertex Pharmaceuticals Incorporated

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.

View Scholarships/Awards
No registration fees are used to fund entertainment or alcohol at this conference

Conference Program    Print  |   View meeting in 12 hr (am/pm) time

The meeting will begin on Monday, June 4 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Friday, June 8 with a closing plenary session from 16:00 to 18:30, followed by a social hour. We recommend return travel on Saturday, June 9 in order to fully experience the meeting.


Arrival and Registration

Grand Mussmann Hotel, Tivoli Room
Welcome Mixer
No registration fees are used to fund alcohol served at this function.

Central-Hotel Kaiserhof


Welcome and Keynote Address

* Geoffrey S. Ginsburg, Duke University, USA

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

Large-Scale National Sequencing Programs: Implementation to Impact

* Geoffrey S. Ginsburg, Duke University, USA

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

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

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

Coffee Break

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

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

Poster Setup


Poster Viewing

Poster Session 1

Coffee Available

Somatic Sequencing Programs: Biological Insights and Diagnosis

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

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

* 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

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

Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.



Implementation Science for Genomic and Precision Medicine

* Teri A. Manolio, National Human Genome Research Institute, USA

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

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

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

Coffee Break

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

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

Poster Viewing


Workshop: Rapid Interpretation of Genomes and Variant Calling

* Martin G. Reese, Fabric Genomics, USA

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

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

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

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

* 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

Coffee Available

International Data Resources Enabling Genomic Medicine

* Kathryn North, University of Melbourne, Australia

Daniel G. MacArthur, Broad Institute, USA
Databases for Rare Disease

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

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

Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.



The Actionable Genome

* Geoffrey S. Ginsburg, Duke University, USA

Heidi Rehm, Harvard Medical School, USA
The Clinical Genome Resource

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

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

Coffee Break

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

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

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

Poster Setup


Poster Viewing

Poster Session 2

Coffee Available

The Value Proposition for National Sequencing

* Maja Mockenhaupt, Universitätsklinikum Freiburg, Germany

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

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

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

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

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

Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.



Pharmacogenomics: The Leading Edge of Genomics Impact in Medicine

* Robyn L. Ward, University of Queensland, Australia

Henk-Jan Guchelaar, Leiden University, Netherlands
The Ubiquitous Pharmacogenomics Project

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

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

Coffee Break

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

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

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

Poster Viewing


Coffee Available

Use of Large-Scale Bio-Clinical Resources for Drug Discovery

* Henk-Jan Guchelaar, Leiden University, Netherlands

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

Carolina Haefliger, AstraZeneca, Sweden
Transforming Drug Research and Development with Genomics

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

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

Meeting Wrap-Up: Outcomes and Future Directions (Organizers)

Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.




*Session Chair †Invited, not yet responded.

Keystone Symposia thanks the Volkswagen Foundation for hosting this conference:

in Cooperation with Volkswagen Foundation

We gratefully acknowledge support for this conference from:

Directors' Fund

These generous unrestricted gifts allow our Directors to schedule meetings in a wide variety of important areas, many of which are in the early stages of research.

Click here to view all of the donors who support the Directors' Fund.

Keystone Symposia thanks our Sponsors(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.
Please stop by to meet these exhibitors during the conference.

We gratefully acknowledge the generous grant for this conference provided by:

National Institutes of Health

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 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:


Fabric Genomics

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

If your organization is interested in joining these entities in support of Keystone Symposia, please contact: Sarah Lavicka, Director of Corporate Relations, Email:,
Phone:+1 970-262-2690

Click here for more information on Industry Support and Recognition Opportunities.

If you are interested in becoming an advertising/marketing in-kind partner, please contact:
Nick Dua, Senior Director, Communications, Email:,
Phone:+1 970-262-1179