1. 1 Betsy L. Humphreys, MLS Betsy L. Humphreys, MLS National Library of Medicine National Library of Medicine National Institutes of Health National Institutes of Health U.S. Department of Health and Human Services blh@nlm.nih.gov blh@nlm.nih.gov How Can NLM Help? Bridging the Chasm April 20, 2009

4. 4 NLM Long Range Plan 2006-16 NLM Long Range Plan 2006-16 Continue/enhance standards work in response to U.S. government priorities and feedback from “real” use in electronic health recordsContinue/enhance standards work in response to U.S. government priorities and feedback from “real” use in electronic health records Continue support for R & D and policy studies to help define and develop “Next Generation” electronic health recordsContinue support for R & D and policy studies to help define and develop “Next Generation” electronic health records

5. 5 Among types of content standards, NLM’s primary focus is terminology… Data elements, e.g., gender, presenting complaint)Data elements, e.g., gender, presenting complaint) Descriptions of entities, e.g., birth certificateDescriptions of entities, e.g., birth certificate Messages, e.g., send test resultMessages, e.g., send test result Allowable values for data elements, which can be entire vocabulariesAllowable values for data elements, which can be entire vocabularies Reference values, i.e., what is “normal”?Reference values, i.e., what is “normal”? Mapping/alignment between different vocabularies and with message standardsMapping/alignment between different vocabularies and with message standards Information models that define the context in which standards are usedInformation models that define the context in which standards are used Survey questions and any coded responsesSurvey questions and any coded responses Guideline, protocol, and algorithm formatsGuideline, protocol, and algorithm formats

6. Some NLM Assumptions Standardizing some data elements during initial data capture will be cost-effective Standardization can occur “under the hood” in clinical information systems You don’t need to choose between standard vocabulary and accurate patient data We need to use and perfect the standard terminologies we already have – not create new ones

7. NLM Board of Regents Working Group on Health Data Standards (Final report to be released in May 2009) Provide additional tools to help users incorporate standards where they will have a positive impactProvide additional tools to help users incorporate standards where they will have a positive impact Establish tight feedback/improvement loop with a set of clinical system usersEstablish tight feedback/improvement loop with a set of clinical system users Promote & enable collaboration in development of terminology value sets and useful clinical subsetsPromote & enable collaboration in development of terminology value sets and useful clinical subsets

8. NLM can help to: Determine if concepts and terms are already present in standard terminologiesDetermine if concepts and terms are already present in standard terminologies –term look-up, batch lists, extraction from clinical texts Map local vocabularies to standard terminologiesMap local vocabularies to standard terminologies Add missing concepts and terms to standard vocabulariesAdd missing concepts and terms to standard vocabularies Create, disseminate, and update standard terminology value sets for data elementsCreate, disseminate, and update standard terminology value sets for data elements Provide clinically useful subsets of large terminologiesProvide clinically useful subsets of large terminologies

9. 9 UMLS Metathesaurus (Apr 2009) ~2,215,395 concepts ( distinct meanings ) ~8,006,171 unique concept names ( some are minor variations) From 152 vocabulary sources ( e.g., SNOMED CT, ICD- 9-CM, Gene Ontology ) In 19 different languages ( all concepts have English names; some have names in other languages ) Associated resources: UMLS Semantic Network, Browsers, Customization tool, Lexical tools, Mapping software, etc.

10. Clinical Terminology Standards supported, licensed, or developed by NLM SNOMED CT (Systematized Nomenclature of Medicine – Clinical Terms)SNOMED CT (Systematized Nomenclature of Medicine – Clinical Terms) –Broad clinical coverage: diseases, findings, anatomy, organisms, etc. LOINC (Logical Observation Identifiers, Names, Codes)LOINC (Logical Observation Identifiers, Names, Codes) –Specific tests, measurements, assessment instruments RxNormRxNorm –Clinical drugs (ingredient + strength + dose form) linked to ingredients, brand names, names used by VA, commercial drug knowledge bases, etc. (RxTerms – entry vocabulary tailored for rapid data entry by US users)

11. RxNorm standard names for drugs containing Amoxicillin

12. RxTerms: includes drugs in current US use & allows you to divide and conquer Type ‘amoxicillin’Type ‘amoxicillin’ Pick appropriate drug/routePick appropriate drug/route Pick appropriate form/strengthPick appropriate form/strength 12

13. NLM also provides : Public access to: –Detailed Research Protocols and data elements ( with value sets) in dbGaP – database of Genomes and Phenomes –Structured Product Labels for medications as released by the FDA ( linked to standard RxNorm names and identifiers) in the DailyMed –Reference values to identify the locations of clinically significant genetic variation in RefSeqGene summary results data in ClinicalTrials.gov –“Standard” clinical trial registry and summary results data in ClinicalTrials.gov

15. Marital status Among the variations found in dbGaP… –1=Single 2=Married 3=Widowed 4=Divorced 5=Separated –1=Married 2=Single (never married) 3=Divorced 4=Widowed 5=Separated –1=Married 2=Widowed 3=Divorced/Separated 4=Never married 5=Unknown/refused –1=Never been married 2=Married 3=Officially separated 4=Divorced by law 5=Widow/Widower

19. NLM and Health Data Standards 1971 – Research ~ Workforce (Informatics Training Grants) 1986 – Research ~ Workforce (UMLS Project) 1991 – Research ~ Workforce (High Performance Computing) Dissemination ~ Policy 1996 - Research ~ Workforce ( HIPAA) Dissemination ~ Policy ~ tools/services Period of NIH Budget Doubling – 1998-2003 2003- 2008 – Research ~ Workforce ( US-wide SNOMED CT license) Development/Maintenance Dissemination ~ Policy ~ tools/services 2009 – Goal: More tools/services to assist in implementation, feedback and enhancement