Genetics Home Reference

1

Genetics Home Reference http//ghr.nlm.nih.gov A
nna Ripple National Library of Medicine Bethesda,
Maryland
2
Topics to Present

• Background of GHR project
• Progress to date
• Behind the scenes technically
• Demo of GHR
• Plans for the future

3
Human Genome Project

• International research effort
• Determine DNA sequence
• Began 1990, completed in 2003
• Next steps for 20,000 genes
• Function and regulation of all genes
• Significance of variations in sequence
• Cures, therapies, genomic medicine

4
The Big Questions

• What has the Genome Project done for me with my
  disease?
• What information is arising related to human
  health?
• How will this lead to personalized medicine?

5
Human Disease Genes

• Genes linked to health conditions
• 425 in 3 years
• 2000/20,000 10 of genes

6
Genomics is Impacting Medicine Today!

• 2000 genes health conditions
• 1200 gene tests for diagnosis
• 600 laboratories worldwide
• Relate to diagnosis, therapy, drug dosage,
  occupational hazards, reproductive plans, health
  risks, .

7
Thus Began GHR

• Information accessible to the public
• Bridge from lay public questions to genomic
  medicine research results
• Brief summaries in lay language
• Links to existing resources

8
Building Bridges
9
Starting Point 11/15/01
OMIM 1792 diseases
MedlinePlus 600 Topics
19 Diseases
GeneTests 125 Reviews 890 Tests
Entrez Gene 13,180 Gene-protein products
10
Genetics Home Reference

• Conditions genes chromosome
• Multiple relationships between conditions and
  genes
• Builds on NLM resources
• Public launch April 2003

11
GHR Facts (April 2006)

• Coverage gt 500 topics
• gt 190 conditions
• gt 310 genes
• 23 pair of chromosomes
• gt 100 MedlinePlus topics
• Handbook with 7 chapters
• gt 1250 glossary entries

12
Reaching Critical Mass
13
Statistics

• gt 4,000,000 hits per month
• gt 7000 visitors
• daily

.
14
Kudos from the Public

• News links from CNN, Nature, Forbes
• Positive feedback
• The best overall reference on human heredity for
  students - from educator
• The first time I have read information that was
  parent friendly... - from parent
• Just what I have been searching for several
  years - from physician

15
GHR Team

• Content Developers
• Sherri Calvo, MS, MBA
• Cathy Fomous, PhD
• Stephanie Morrison
• Diane Mucci, PhD
• System Evaluators
• Rob Logan, PhD
• May Cheh, MS
• 102 Content Experts

• System Developers
• Jane Fun
• Phillips Wolf
• Nicholas Ide
• John Gillen
• Russell Loane, PhD
• Eric Dorfman
• Senior Advisor
• Joyce Mitchell, PhD

16
GHR Architecture
17
Demo of GHRFocus on Parkinson Disease

• http//ghr.nlm.nih.gov/

18
(No Transcript)
19
(No Transcript)
20
Parkinson disease
21
PARK2 Gene
22
Chromosome 6
23
Condition Page Sidebar
24
References
25
LinkOut
26
Link to MedlinePlus
27
Link to Bookshelf
28
Link to ClinicalTrials.gov
29
Link to OMIM
30
GHR Publications

• - Mitchell JA, Fomous C, Fun J.  Challenges and
  Strategies of the Genetics Home Reference.  JMLA
  2006 In press.
• - Mitchell JA, Fun J, McCray AT. Design of
  Genetics Home Reference a new NLM consumer
  health resource.J Am Med Inform Assoc. 2004
  Nov-Dec11(6)439-47. Epub 2004 Aug 6. PMID
  15298997

31
GHR Long Term Goals

• All MedlinePlus topics with genetic association
• gt150 more
• All gene-disease relationships
• 2000 and rising
• THE Starting Point for genetics health
  information for the public