Genetics Home Reference http://ghr.nlm.nih.gov Anna Ripple National Library

Genetics Home Reference http://ghr.nlm.nih.gov Anna Ripple National Library

Genetics Home Reference http://ghr.nlm.nih.gov Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2006 1 Topics to Present

Background of GHR project Progress to date Behind the scenes technically Demo of GHR Plans for the future 2 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 3 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? 4

Human Disease Genes Genes linked to health conditions + 425 in 3 years 2000/20,000 = 10% of genes 1800 1600 1400

1200 1000 800 600 400 200 0 2001 2002 2003 2004 Specific Genes

5 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, . 6

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 7 Building Bridges Research HGNC Entrez Gene Gene Ontology GeneReview GeneTests PubMed OMIM Consumer Genetics Home

Reference MedlinePlus NIH Publications Education Resources ClinicalTrials.gov Patient Support 8 Starting Point 11/15/01 OMIM MedlinePlus

1792 diseases 600 Topics 19 Diseases Entrez Gene 13,180 Geneprotein products GeneTests 125 Reviews 890 Tests 9 Genetics Home Reference Conditions

Multiple relationships between conditions and genes Builds on NLM resources Public launch April 2003 genes chromosome 10

GHR Facts (April 2006) Coverage > 500 topics > 190 conditions > 310 genes 23 pair of chromosomes > 100 MedlinePlus topics Handbook with 7 chapters > 1250 glossary entries 11 0 Month

12 4 /1 /2 0 0 6 2 /1 /2 0 0 6 1 2 /1 /2 0 0 5 1 0 /1 /2 0 0 5 8 /1 /2 0 0 5 6 /1 /2 0 0 5 4 /1 /2 0 0 5 2 /1 /2 0 0 5

1 2 /1 /2 0 0 4 Genes 1 0 /1 /2 0 0 4 8 /1 /2 0 0 4 Unique Conditions 6 /1 /2 0 0 4 4 /1 /2 0 0 4 2 /1 /2 0 0 4

1 2 /1 /2 0 0 3 1 0 /1 /2 0 0 3 8 /1 /2 0 0 3 6 /1 /2 0 0 3 4 /1 /2 0 0 3 N um be r Reaching Critical Mass GHR Numbe r of Summaries on Public Site Total (Includes chromosomes and subtypes) 600

500 400 300 200 100 GHR Server Load Statistics

Number of Hits > 4,000,000 hits per month > 7000 visitors daily 5000000 4000000 3000000 100 2000000 1000000 0

50 0 8000 Median Number of Unique IPs 6000000 Month 1st 3rdGHR Users Qtr Qtr East

West North 7000 6000 5000 4000 3000 2000 1000 0 Month 13 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 14 GHR Team

Content Developers System Evaluators 102 Content Experts System Developers

Sherri Calvo, MS, MBA Cathy Fomous, PhD Stephanie Morrison Diane Mucci, PhD Rob Logan, PhD May Cheh, MS Jane Fun

Phillips Wolf Nicholas Ide John Gillen Russell Loane, PhD Eric Dorfman Senior Advisor Joyce Mitchell, PhD 15 GHR Architecture HGNC Entrez Gene PubMed GeneTests ClinicalTrials.gov

MedlinePlus Expert Reviewer Condition or Gene Document Content Manager Site Content Developer Publish Public

Site Genetics Home Reference System Public 16 Demo of GHR Focus on Parkinson Disease http://ghr.nlm.nih.gov/ 17 18 19

Parkinson disease 20 PARK2 Gene 21 Chromosome 6 22 Condition Page Sidebar 23

References 24 LinkOut 25 Link to MedlinePlus 26 Link to Bookshelf 27

Link to ClinicalTrials.gov 28 Link to OMIM 29 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 NovDec;11(6):439-47. Epub 2004 Aug 6. PMID: 15298997 30 GHR: Long Term Goals All MedlinePlus topics with genetic association >150 more All gene-disease relationships 2000 and rising

THE Starting Point for genetics health information for the public 31

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