DGM Meetings & Workshops

Frontiers in Population Genomics Research Meeting

Overview

The Frontiers in Population Genomics Research Meeting was held December 18-19, 2007, at the Bethesda North Marriott Hotel & Conference Center in Bethesda, Md. The meeting was convened to chart future research directions for NHGRI to pursue in population genomics, defined as the application of genomic technologies to population studies, to meet the goals of NHGRI and NIH in improving health and reducing disease.

Agenda and Slide Presentations

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Day 1, Tuesday, December 18, 2008
8:30 a.m. Introductions, Welcome and Charge
Greg Burke and Jeff Murray

Overview of the Office of Polpulation Genomics (OPG)
9:00 a.m. History and Need
Francis Collins
9:30 a.m. Mission, Goals and Accomplishments
Teri Manolio
10:00 a.m. Discussion
10:30 a.m. Break and Resources
11:00 a.m. Large Cohort Studies
Greg Burke, Barbara Koenig, Rex Chisholm
  • Gaps in current portfolio of population studies
  • Facilitating use of existing population studies for genomic research
  • Advantages of longitudinal studies for genetic research
  • Community consultation
  • Adequacy of consent for genomic research and data sharing
  • Efficient methods of collecting phenotype and exposure data (electronic health records, other information systems)
  • Research in clinical care systems or small clinical practices
11:25 a.m. General Discussion
Working Group
12:20 p.m. Summary of Possible Activities and Priorities for NHGRI/OPG
Working Group
12:30 p.m. Lunch
1:30 p.m. Building on Genome-Wide Association (GWA) Studies
Jeff Murray

  • Additional GWA studies needed
  • Preparing for next population-based technologies
  • Mining GWA data, pooling and establishing collaborations
1:40 p.m. Assigned Discussants
David Goldstein and Malcolm Pike


  • Followup of GWA findings
  • GWA studies of risk factors
1:50 p.m. General Discussion
Working Group
2:20 p.m. Summary of Possible Activities and Priorities for NHGRI/OPG
2:30 p.m. Genomic Technologies Suitable for Population Studies
Mike Snyder

  • Technologies ready or nearly ready for application to large populations
  • Elements of genome to be assessed (gene expression, epigenetics, transcription factor binding, structural variants)
  • Applying ENCODE information
  • Future technology directions
2:40 p.m. Genomic Technologies Suitable for Population Studies
Stephen Chanock and Mike Snyder

  • Sample Collection
  • Investigating causality
2:50 p.m. General Discussion
Working Group
3:20 p.m. Summary of Possible Activities and Priorities for NHGRI/OPG
Working Group
3:30 p.m. Break
4:00 p.m. Databases
Jim Ostell
  • dbGaP-NHGRI role in development and management
  • Integration with sequencing data and other technologies
  • Interacting with "parent" databases-at what point are data shared publicly?
  • Sharing across databases: technical, legal, and policy issues
4:10 p.m. Assigned Discussants:
Chris Chute and Lon Cardon
  • Harmonizing phenotypes and environmental exposures
  • Minimal dataset for deposition needed to accurately reflect association findings
4:20 p.m. Working Group
4:50 p.m. Summary of Possible Activities and Priorities for NHGRI/OPG
Working Group
5:00 p.m. Data Analysis
Lon Cardon
  • Developing new statistical methods
  • Facilitating cross-study analyses of heterogeneous populations
  • Building analytic capacity outside NHGRI: computing infrastructure, training
  • Building analytic capacity inside NHGRI: analysis roles for OPG staff
5:10 p.m. Assigned Discussants
Marcella Devoto and Ellen Wijsman
  • Quantitative traits
  • Gene-environment interactions
  • Statistical issues in selecting appropriate study designs
  • Training of statistical geneticists
5:20 p.m. General Discussion
Working Group
5:50 p.m. Summary of Possible Activities and Priorities for NHGRI/OPG
Working Group
6:00 p.m. Adjournment


Day 2, Wednesday, December 19, 2008
8:30 a.m. Health and Health Disparities of U.S. Race/Ethnic Minority Populations
Richard Cooper

  • What's likely to be genetic, and what isn't, in minority health disparities
  • Dealing with real biologic differences in genetically defined risk (major allele frequency differences, etc.)
  • Barriers to application of findings in minority populations: access to care, fear of genetic testing, stigmatization
  • Accommodating diverse ancestral origins in interpretation of findings (AIMs vs. selfidentified race)
8:40 a.m. Assigned Discussants
Martha Daviglus and Charles Rotimi

  • Unique genetic research issues among specific race/ethnic minorities
  • Working with indigenous populations in general, and what should be our engagement with Africa?
8:50 a.m. General Discussion
Working Group
9:20 a.m. Summary of Possible Activities and Priorities for NHGRI/OPG
Working Group
9:30 a.m. Novel Population Research Approaches
Howard MacLeod, Montse Garcia-Closas and Anne Newman
  • Gaps in current portfolio of population studies
  • Pharmacogenetics
  • Molecular taxonomy of disease
  • Genes predicting good health and function
9:50 a.m. General Discussion
Working Group
10:20 a.m. Summary of Possible Activities and Priorities for NHGRI/OPG
Working Group
10:30 a.m. Break
11:00 a.m. Clinical Translation
Bob Nussbaum

  • Use of genetic testing in clinical care
  • Direct to consumer genetic testing (23andMe, etc.)
  • Use of electronic medical records in genetic research and in clinical application of actionable findings
11:10 a.m. Assigned Discussants
Joe McInerney and David Schwartz

  • Education of, and communication of actionable findings to, lay/clinical communities
  • Improving research access to, and quality of, phenotyping information collected in clinical care
11:20 a.m. General Discussion
Working Group
11:50 a.m. Summary of Possible Activities and Priorities for NHGRI/OPG
Working Group
12:00 p.m. Break to Distribute Box Lunches
12:15 p.m. Cross-Disciplinary Training
Tom Pearson

  • Genetics to epidemiologists
  • Epidemiology to geneticists (including bench scientists)
  • Fostering young investigators
12:25 p.m. Assigned Discussants
Richard Cooper
and Ellen Wijsman
  • The role of multidisciplinary training vs. multidisciplinary teams
  • Balancing training to match the scientific goals: Is this population science or genetics?
12:35 p.m. General Discusssion
Working Group
1:05 p.m. Summary of possible activities and priorities for NHGRI/OPG
Working Group
1:15 p.m. Conclusions, Priorities, and Recommendations
Greg Burke and Jeff Murray
2:00 p.m. Adjournment

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Last Updated: November 21, 2010