Herrenhausen Palace Floorplan
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This meeting took place in 2018
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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
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
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
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.
MONDAY, JUNE 4
TUESDAY, JUNE 5
WEDNESDAY, JUNE 6
THURSDAY, JUNE 7
FRIDAY, JUNE 8
SATURDAY, JUNE 9
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.
MONDAY, JUNE 4
16:00—20:00
Arrival and Registration
Grand Mussmann Hotel, Tivoli Room
18:00—20:00
Welcome Mixer
No registration fees are used to fund alcohol served at this function.
Central-Hotel Kaiserhof
09:00—10:00
Welcome and Keynote Address
Meeting has ended...abstracts no longer viewable online.
Auditorium
*
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
Delivering Genomic Medicine at a Population Level Across a Health System – The NHS Experience
10:00—12:30
Large-Scale National Sequencing Programs: Implementation to Impact
Meeting has ended...abstracts no longer viewable online.
Auditorium
*
Geoffrey S. Ginsburg,
Duke University, USA
Zhengming Chen,
University of Oxford, UK
China Kadoorie Biobank of 0.5 Million People: Opportunities
China Kadoorie Biobank of 0.5 Million People: Opportunities
Gad Rennert,
Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Israel
Clalit's National Israeli 100K Genomes Personalized Medicine RCT
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
The Million Veteran Program: A Modern Mega-Cohort within a Large Healthcare System – Progress, Challenges and Future Directions
Mark Caulfield,
William Harvey Research Institute, Queen Mary University of London, UK
Genomics England: The 100,000 Genomes Project
Genomics England: The 100,000 Genomes Project
11:00—11:20
Poster Setup
Ballroom
12:30—14:00
Lunch
Ballroom
13:30—19:30
Poster Viewing
Ballroom
13:30—15:30
Poster Session 1
Ballroom
15:30—16:00
Coffee Available
Foyer
16:00—18:00
Somatic Sequencing Programs: Biological Insights and Diagnosis
Meeting has ended...abstracts no longer viewable online.
Auditorium
Peter Campbell,
Wellcome Trust Sanger Institute, UK
Precision Oncology through International Collaboration and Data Sharing
Precision Oncology through International Collaboration and Data Sharing
Pawel Stankiewicz,
Baylor College of Medicine, USA
New Mutation, Mosaicism and Human Disease Traits
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
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
Short Talk: Somatic Mutation History of Glioblastoma Patients with Recurrent Tumors
18:00—19:30
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.
Ballroom
09:00—12:00
Implementation Science for Genomic and Precision Medicine
Meeting has ended...abstracts no longer viewable online.
Auditorium
*
Teri A. Manolio,
National Human Genome Research Institute, USA
Robyn L. Ward,
University of Queensland, Australia
Genomic Test Evaluation Frameworks: A Review
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
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
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
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)
A National Network for Implementing Genomic Medicine in Practice (IGNITE)
09:00—13:30
Poster Viewing
Ballroom
12:00—13:30
Lunch
Ballroom
13:30—15:30
Workshop: Rapid Interpretation of Genomes and Variant Calling
Auditorium
*
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
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
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
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
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
You Can't Interpret What You Don't See: Variant Calling from NGS Data for Clinical Applications
15:30—16:00
Coffee Available
Foyer
16:00—18:00
International Data Resources Enabling Genomic Medicine
Meeting has ended...abstracts no longer viewable online.
Auditorium
*
Kathryn North,
University of Melbourne, Australia
Daniel G. MacArthur,
Broad Institute, USA
Databases for Rare Disease
Databases for Rare Disease
Barbara C. Biedermann,
University of Basel, Switzerland
Short Talk: COBEDIAS Empiric Clinical Profiling - A Digital Tool to Phenotype Disease
Short Talk: COBEDIAS Empiric Clinical Profiling - A Digital Tool to Phenotype Disease
18:00—19:30
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.
Ballroom
09:00—12:15
The Actionable Genome
Meeting has ended...abstracts no longer viewable online.
Auditorium
*
Geoffrey S. Ginsburg,
Duke University, USA
Heidi Rehm,
Harvard Medical School, USA
The Clinical Genome Resource
The Clinical Genome Resource
James S. Ware,
Imperial College London, UK
Variation in Cardiac Disease Genes: Location Matters
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
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
NHGRI/NIH Programs Developing Clinically Actionable Genomic Information
Jill M. Hagenkord,
Color Genomics, Inc., USA
Universal Screening for the CDC Tier 1 Genomic Conditions: Opportunities for Health Systems, Government Health Agencies and Sequencing Initiatives
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
Short Talk: The Swiss Molecular Tumor Board: Comprehensive Molecular Cancer Diagnostics in the Clinics
10:30—10:50
Poster Setup
Ballroom
12:15—13:45
Lunch
Ballroom
13:30—19:30
Poster Viewing
Ballroom
13:30—15:30
Poster Session 2
Ballroom
15:30—16:00
Coffee Available
Foyer
16:00—18:15
The Value Proposition for National Sequencing
Meeting has ended...abstracts no longer viewable online.
Auditorium
*
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
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
The Health Economic Evidence for Whole Genome Sequencing
Surakameth Mahasirimongkol,
Ministry of Public Health, Thailand
Genomics Thailand: Precision Clinical Care on a National Scale
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
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
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
18:15—19:45
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.
Ballroom
09:00—12:15
Pharmacogenomics: The Leading Edge of Genomics Impact in Medicine
Meeting has ended...abstracts no longer viewable online.
Auditorium
*
Robyn L. Ward,
University of Queensland, Australia
Henk-Jan Guchelaar,
Leiden University, Netherlands
The Ubiquitous Pharmacogenomics Project
The Ubiquitous Pharmacogenomics Project
Mary V. Relling,
St. Jude Children's Hospital, USA
Clinical Implementation of Pharmacogenetics
Clinical Implementation of Pharmacogenetics
Gabor Marth,
University of Utah, USA
Short Talk: Precision Oncology of Advanced Disease: Insights into Refractory and Metastatic Cancers
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
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
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
Short Talk: A missense variant of HFE is associated with Bleomycin-induced Lung Injury in South East Asian Hodgkin Lymphoma Patients
09:00—13:45
Poster Viewing
Ballroom
12:15—13:45
Lunch
Ballroom
15:30—16:00
Coffee Available
Foyer
16:00—18:15
Use of Large-Scale Bio-Clinical Resources for Drug Discovery
Meeting has ended...abstracts no longer viewable online.
Auditorium
*
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
Discovery of Novel Drug Targets: High-Throughput Genomics of 250,000 Exomes
Carolina Haefliger,
AstraZeneca, Sweden
Transforming Drug Research and Development with Genomics
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
GenomeAsia 100K (GA100K) and Asian Reference Genome
18:15—18:30
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Meeting has ended...abstracts no longer viewable online.
Auditorium
18:30—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.
Ballroom
Departure
*Session Chair †Invited, not yet responded.
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