BioMedical Data Everywhere: Recent Developments in Data Management and Policy at NIH Jerry Sheehan Assistant Director for Policy Development National Library of Medicine - National Institutes of Health CASC Fall Meeting September 8, 2011, Arlington, VA

National Library of Medicine: More than a Library World’s largest medical library – >12 million physical artifacts (books, journals, technical reports, photographs) – >22,000 print and electronic serial subscriptions – Historical collection of rare and old medical works Intramural research laboratories – Lister Hill Nat’l Center for Biomedical Comms. – National Center for Biotechnology Information Extramural research and training – ~ 100 research projects per year, $36M – 18 funded research training sites, 250 trainees Health data standards and vocabularies Information resources and services – Publications and metadata – Genomic, chemical, clinical trial data – Environmental health and toxicology data – Disaster information services & systems – Medical images, analytical tools 2

NLM Information Resources Publications – Citations/metadata (PubMed) – Full-text articles (PubMed Central) Data – Genomic (GenBank, dbGaP, GEO, GeneTest) – Clinical trials (ClinicalTrials.gov) – Drug (RxNorm, Daily Med, Pillbox) – Chemical (PubChem) – Environmental & toxicology Images – Visible Human – Spine x-rays, cervical images – Historical photos Synthesized information – Evidence summaries – Guidelines – Consumer health information (MedlinePlus) Vocabulary resources – Unified Medical Language System – Standard clinical terms (SNOMED) – Health data interchange – Biomedical terms Software & Tools – APIs – Natural language processing – Image analysis – Mobile apps 3

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QUALITY Growth in Medline, the fully indexed subset of PubMed which accounts for approximately 90% of all PubMed citations. Original graph: PubMed/Medline: Journal Citations CONTENT 21+ million citations and abstracts – 700,000 added per year – 50%+ link to full text journals – added per year USAGE (2010) 120+ million visitors 2 million searches per day 2.4 billion page views Google, Bing, others Content used by outside developers Mobile version 5

+ 2.2 million full-text articles, 26 thousand more added per month Typical weekday usage: 420,000 different users 740,000 articles retrieved Annually ~ 99% of articles downloaded at least once 28% downloaded more than 100 times PubMed Central: Full-Text Articles 6

ClincalTrials.gov Studies Registered at ClinicalTrials.gov since May 1, 2005Registry and Results Database Federally and privately supported trials Conducted in the United States and 170+ countries Mandatory submission for some trials Current content 100,000+ registered trials 330 new registrations/week 3,000+ results (summary) of approved products o Outcome measures o Statistical analyses o Adverse events Usage (2010) 28,000 visitors per day 7

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9 Repository for NIH-funded GWA studies As of Aug 2011: 161 studies 2045 data sets 2727 documents 5890 Analyses Variables

10 As of August, 2011: 85 million deposited substance records o Representing more than 30 million chemically unique compounds 500 thousand bioassay records o Representing more than 130 million experimental bioactivity results Database of biological activities of small molecules Repository for data from NIH Molecular Libraries program

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ToxMap: Environmental Health Maps 12

Almost 900 In English & Spanish ~ 40,000 links Almost 900 In English & Spanish ~ 40,000 links ~1,000 drugs 100 supplements ~1,000 drugs 100 supplements > 170 tutorials > 75 anatomy videos > 125 surgery videos > 170 tutorials > 75 anatomy videos > 125 surgery videos Since 2006 English & bilingual issues Since 2006 English & bilingual issues >40 languages >250 topics >3,300 links >40 languages >250 topics >3,300 links Over 100 directories of doctors, hospitals, clinics & libraries ~ 3,500 articles > 2,000 images ~ 3,500 articles > 2,000 images stories added daily >1,200 links to ClinicalTrials.gov 13

MEDLINEPLUS CONNECT Links from diagnosis, drug, and laboratory information in EHR/PHR to relevant material in MedlinePlus, MEDLINEPLUS MOBILE Streamlines content specifically tailored for users particular type of cell phone or tablet. 179K 306K MEDLINEPLUS USAGE 150 million visitors in ,000 visitors per day. MedlinePlus: Trusted Health Information 906K 2.3M 25.8M 436K 208K 128K 109K 507K 1.4M 296K 6.1M 1.5M 120K 174K 403K 656K 623K 1.5M 462K 1.6M 3.5M 1.2M 343K 765K 322K 1.8M 1M 2.4M 3.2M 5.4M 298K ME 270K NH 240K VT 2.2M MA 307K RI 834K CT 4.1M NJ 117K DE 1.7M MD 210K 10M 651K 1.9M 711K 1.3M 725K 3.1M 4.2M Map of 100+ Million visits in the United States in

08-SEP Genetic test means an analysis of human DNA, RNA, chromosomes, proteins, or metabolites, if the analysis detects genotypes, mutations, or chromosomal changes. Genetic test does not include an analysis of proteins or metabolites that is directly related to a manifested disease, disorder, or pathological condition.

08-SEP CASC Fall Meeting

NLM is Not Alone: Growing interest in data at NIH “[High throughput technologies] provide us with the opportunity to ask questions that have the word ‘ALL’ in them. What are ALL the transcripts in a cell? What are ALL the protein interactions?.. Those kinds of questions are now approachable, especially if we do the right job of making really powerful databases publicly accessible to all those who need them and empower investigators in small labs as well as big labs to plunge into that kind of mindset.” - Francis S. Collins, MD, PhD [Director, NIH] 17

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Select NIH Data Initiatives NDAR – National Database for Autism Research (NIMH) – Repository for NIH-funded autism studies and centers of excellence – Genomic, phenotypic, imaging data and associated information ADNI – Alzheimer’s Disease Neuroimaging Initiative (NIA) – Multisite study, public-private partership, validated biomarkers – Centralized FMRI and PET data, linked clinical database NIDDK Data Repository – Archival datasets from NIDDK-funded studies (diabetes, digestive, kidney) – 29 datasets to-date; more than 100 access requests in BTRIS – Biomedical Translational Research Information System (CC) – Repository for data from NIH intramural clinical studies – Allow aggregation and analysis across multiple Institute studies 20

Data Sharing Policies 21 NIH Public Access Policy (journal articles) NIH Data Sharing Policy (data sharing plan) NIH GWAS Policy dbGaP Clinical Trials Info Clinical Trials.gov IC or domain-specific policies Autism Research – National Database for Autism Research NIAAA Genetics of Alzheimer’s Alzheimer’s Disease Neuroimaging Initiative (LONI Repository) Others... NIH Sequence Data Sharing Policy GenBank GEO

Recent Guidance for NIH Data Sharing Plans 22

NLM 175 th Anniversary 08-SEP