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Vision for Accelerating the Development and Dissemination of Knowledge on Human Genetic Variation and Health

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Leadership and funding Mature genetic epidemiology research field Lots of data and big sample sizes Methods harmonization and sharing Number of ... – PowerPoint PPT presentation

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Title: Vision for Accelerating the Development and Dissemination of Knowledge on Human Genetic Variation and Health


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

Knowledge Integration
Guide Health Services Inform Public Policy

12

The HuGENet Road Map

Epidemiologic Studies/Platforms 35
networks 15 biobanks
Guide Research Agenda

Analyses and Publications
Knowledge Dissemination
Network of Networks

Knowledge Integration
Guide Health Services Inform Public Policy

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
(No Transcript)
16

The HuGENet Road Map

Epidemiologic Studies/Platforms 35
networks 15 biobanks
Guide Research Agenda

Analyses and Publications
Knowledge Dissemination
Network of Networks

Knowledge Integration
Guide Health Services Inform Public Policy

17

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

18
(No Transcript)
19
(No Transcript)
20
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
21
STrengthening REporting of Genetic Associations
(STREGA)
  • STROBE International collaborative
    initiative for STrengthening the Reporting of
    OBservational studies in Epidemiology

STROBE HuGE STREGA
22

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

23

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

24
8 Collaborating Journals
25
NAT2 Slow Acetylation and Risk of Bladder Cancer
Garcia-Closas et al, Lancet 2005
26
(No Transcript)
27
What about Genome-Wide Association Studies?
28

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

29

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

30

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

31
Outline
  • HuGENet background
  • HuGENet Road Map-Role of Networks
  • Vision for Online Encyclopedia

32
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

33
The Vision for a Network-Driven HuGENet Online
Encyclopedia
Web-Based Tables Updated by HuGENet
34
An example of a Web-Based Table Layout
Meta Analys Link Gene (allele) No. Cases No. Cntrols Contrst OR (CI) Heterg/ Interact




35
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36
(No Transcript)
37
An example of a Web-Based Table Layout Breast
Cancer
Meta Analys Link Gene (allele) No. Cases No. Cntrols Contrst OR (CI) Heterg/ Interact
Hotlink MTHFR (C677T) 5476 7336 Recessive (TT) 1.06 (0.91-1.24) P0.08/ premenopausal



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
39
The Vision for a Network-Driven HuGENet Online
Encyclopedia
Links to GWA Online And other Databases CGEMS
Links to Biologic/ Bioinformatics db MTHFR
Links to HuGE PubLit Database 23 articles
Meta Analys Link Gene (allele) No. Cases No. Cntrols Contrst OR (CI) Heterg/ Interact
Hotlink MTHFR (C677T) 5476 7336 Recessive (TT) 1.06 (0.91-1.24) P0.08/ premenopausal



40
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
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
Web-Based Tables Updated by HuGENet
HuGENet Added Value
Assessing Cumulative Evidence
42
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
43
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
44
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
45
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
46
Updated Web Based Tables
Meta Analys Link Gene (allele) No. Cases No. Cntrols Contrst OR (CI) Heterg/ Interact Assess Methodology Assess Biology
Hotlink MTHFR (C677T) 5476 7336 Recessive (TT) 1.06 (0.91-1.24) P0.8/ premenopausal Describe Assess Describe Assess



47
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
Meta Analys Link Gene (allele) No. Cases No. Cntrols Contrst OR (CI) Heterg/ Interact Assess Methodology Assess Biology
Hotlink MTHFR 5476 7336 TT vs others 1.06 (0.91-1.24) Describe Describe Describe




Published Field Synopsis
1-2 page encyclopedia entry
48
Models for Online Encyclopedia Entry 1
49
Models for Online Encyclopedia Entry 2
50
Models for Online Encyclopedia Entry 3
51
Models for Online Encyclopedia Entry 4
52

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
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