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Muin J. Khoury Centers for Disease Control and Prevention

Vision for Accelerating the Development and Dissemination of Knowledge on Human Genetic Variation and Health. Muin J. Khoury Centers for Disease Control and Prevention National Office of Public Health Genomics. Outline. HuGENet background HuGENet Road Map-Role of Networks

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Muin J. Khoury Centers for Disease Control and Prevention

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  1. Vision for Accelerating the Development and Dissemination of Knowledge on Human Genetic Variation and Health Muin J. Khoury Centers for Disease Control and Prevention National Office of Public Health Genomics

  2. Outline • HuGENet background • HuGENet Road Map-Role of Networks • Vision for Online Encyclopedia

  3. Population Health Research in the “Genomics” Era

  4. Epidemiology in the 21st Century: “Calculation, Communication, and Intervention” Fleming and Koplan, AJPH 2000” • “The sequencing of the human genome offers the greatest opportunity for epidemiology since John Snow discovered the Broad Street pump” • Shpilberg et al. J Clin Epidemiol(1997)

  5. “Systematic application of epidemiologic methods and approaches to assess the impact of human genetic variation on health and disease” Khoury, Little and Burke, HuGE 2004 • Genotype prevalence • Gene - disease association • Gene - gene interactions • Gene - environment interactions • Assessment of genetic tests

  6. “Systematic application of epidemiologic methods and approaches to assess the impact of human genetic variation on health and disease” Khoury, Little and Burke, HuGE 2004 HuGE problem: 25,000 genes, many variants, combinations, & interactions with nongenetic risk factors • Genotype prevalence • Gene - disease association • Gene - gene interactions • Gene - environment interactions • Assessment of genetic tests

  7. Human Genome Epidemiology Network (HuGENet) • Global collaboration of individuals and organizations to assess population impact of genomics and how it can be used to improve health and prevent disease“

  8. HuGENet Goals • Establish an information exchange that promotes global collaboration in developing peer-reviewed information on the relationship between human genomic variation and disease • Promote training and technical assistance to researchers and practitioners interested in assessing the role of human genomic variation in disease and how such information can be used in practice. • Develop an updated and accessible knowledge base on the World Wide Web

  9. HuGENet Activities • 4 Coordinating Centers • HuGE Reviews • Methodologic workshops • HuGEPubLit Database • Network of Networks

  10. Outline • HuGENet background • HuGENet Road Map-Role of Networks • Vision for Online Encyclopedia

  11. The HuGENet “Road Map” Epidemiologic Studies/Platforms Guide Research Agenda Analyses and Publications Knowledge Dissemination Network of Networks Guide Health Services & Inform Public Policy Knowledge Integration

  12. The HuGENet “Road Map” Epidemiologic Studies/Platforms 35 networks 15 biobanks Guide Research Agenda Analyses and Publications Knowledge Dissemination Network of Networks Guide Health Services & Inform Public Policy Knowledge Integration

  13. HuGENet “Network of Networks” Nat Genet Jan 2006

  14. Why Networks? • Leadership and funding • “Mature” genetic epidemiology research field • Lots of data and big sample sizes • Methods harmonization and sharing

  15. The HuGENet “Road Map” Epidemiologic Studies/Platforms 35 networks 15 biobanks Guide Research Agenda Analyses and Publications Knowledge Dissemination Network of Networks Guide Health Services & Inform Public Policy Knowledge Integration

  16. The HuGENet “Road Map” Epidemiologic Studies/Platforms 35 networks 15 biobanks Guide Research Agenda Analyses and Publications Databs/STREGA Knowledge Dissemination Network of Networks Guide Health Services & Inform Public Policy Knowledge Integration

  17. Number of Published Human Genome Epidemiology (HuGE) Papers* 2001-2005 • Year Prevalence Associations Interactions • 2001 308 2141 436 • 2002 349 2799 569 • 2003 328 3021 600 • 2004 430 3772 664 • 2005 418 4569 911 As of October 2006: ~ 24,000 entries * Data from HuGE Published Literature Database

  18. STROBE: International collaborative initiative for STrengthening the Reporting of OBservational studies in Epidemiology STrengthening REporting of Genetic Associations (STREGA) STROBE + HuGE = STREGA

  19. The HuGENet “Road Map” Epidemiologic Studies/Platforms 35 networks 15 biobanks Guide Research Agenda Analyses and Publications Databs/STREGA Knowledge Dissemination Network of Networks Knowledge Integration Guide Health Services & Inform Public Policy

  20. The HuGENet “Road Map” Epidemiologic Studies/Platforms 35 networks 15 biobanks Guide Research Agenda Analyses and Publications Databs/STREGA Knowledge Dissemination Network of Networks Knowledge Integration 52 HuGE Reviews/ 455 MA Guide Health Services & Inform Public Policy

  21. 8 Collaborating Journals

  22. NAT2 Slow Acetylation and Risk of Bladder Cancer Garcia-Closas et al, Lancet 2005

  23. What about Genome-Wide Association Studies?

  24. The HuGENet “Road Map” Epidemiologic Studies/Platforms 35 networks 15 biobanks Guide Research Agenda Analyses and Publications Databs/STREGA Knowledge Dissemination Network of Networks Knowledge Integration 52 HuGE Reviews/ 455 MA Guide Health Services & Inform Public Policy

  25. The HuGENet “Road Map” Epidemiologic Studies/Platforms 35 networks 15 biobanks Guide Research Agenda Analyses and Publications Databs/STREGA Knowledge Dissemination E-ENCYCLOPEDIA Network of Networks Knowledge Integration 52 HuGE Reviews/ 455 MA Guide Health Services & Inform Public Policy

  26. The HuGENet “Road Map” Epidemiologic Studies/Platforms 35 networks 15 biobanks Guide Research Agenda Analyses and Publications Databs/STREGA Knowledge Dissemination E-ENCYCLOPEDIA Network of Networks Knowledge Integration 52 HuGE Reviews/ 455 MA Guide Health Services & Inform Public Policy

  27. Outline • HuGENet background • HuGENet Road Map-Role of Networks • Vision for Online Encyclopedia

  28. The Vision • Develop a collaborative updated knowledge base on the World Wide Web (online encyclopedic entries) including assessing cumulative evidence and links to biology and GWA

  29. The Vision for a Network-Driven HuGENet Online Encyclopedia Web-Based Tables Updated by HuGENet

  30. An example of a Web-Based Table Layout

  31. An example of a Web-Based Table Layout Breast Cancer

  32. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases Links to HuGE PubLit Database Links to Biologic/ Bioinformatics db Web-Based Tables Updated by HuGENet

  33. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases CGEMS Links to HuGE PubLit Database 23 articles Links to Biologic/ Bioinformatics db MTHFR

  34. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases Links to Biologic/ Bioinformatics db Links to HuGE PubLit Database Web-Based Tables Updated by HuGENet Assessing Cumulative Evidence

  35. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases Links to Biologic/ Bioinformatics db Links to HuGE PubLit Database Web-Based Tables Updated by HuGENet HuGENet Added Value Assessing Cumulative Evidence

  36. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases Links to Biologic/ Bioinformatics db Links to HuGE PubLit Database Web-Based Tables Updated by HuGENet HuGENet Added Value Assessing Cumulative Evidence

  37. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases Links to Biologic/ Bioinformatics db Links to HuGE PubLit Database Web-Based Tables Updated by HuGENet Assessing Cumulative Evidence Published Field Synopsis

  38. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases Links to Biologic/ Bioinformatics db Links to HuGE PubLit Database Web-Based Tables Updated by HuGENet Assessing Cumulative Evidence Published Field Synopsis 1-2 page encyclopedia entry

  39. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases Links to Biologic/ Bioinformatics db Links to HuGE PubLit Database Web-Based Tables Updated by HuGENet Assessing Cumulative Evidence Published Field Synopsis 1-2 page encyclopedia entry

  40. Updated Web Based Tables

  41. The Vision for a Network-Driven HuGENet Online Encyclopedia Links to GWA Online And other Databases Links to Biologic/ Bioinformatics db Links to HuGE PubLit Database Published Field Synopsis 1-2 page encyclopedia entry

  42. Models for Online Encyclopedia Entry 1

  43. Models for Online Encyclopedia Entry 2

  44. Models for Online Encyclopedia Entry 3

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