Frontiers in Population Genomics Research Meeting - Overview

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.

Participants

Attendees

NHGRI/OPG Staff

Meeting Materials

Agenda and Slide Presentations

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