Analysis of a Study of the Users, Uses, and Future Agenda of the UMLS

OBJECTIVES The UMLS constitutes the largest existing collection of medical terms. However, little has been published about the users and uses of the UMLS. This study sheds light on these issues. DESIGN We designed a questionnaire consisting of 26 questions and distributed it to the UMLS user mailing list. Participants were assured complete confidentiality of their replies. To further encourage list members to respond, we promised to provide them with early results prior to publication. Sector analysis of the responses, according to employment organizations is used to obtain insights into some responses. RESULTS We received 70 responses. The study confirms two intended uses of the UMLS: access to source terminologies (75%), and mapping among them (44%). However, most access is just to a few sources, led by SNOMED, MeSH, and ICD. Out of 119 reported purposes of use, terminology research (37), information retrieval (19), and terminology translation (14) lead. Four important observations are that the UMLS is widely used as a terminology (77%), even though it was not designed as one; many users (73%) want the NLM to mark concepts with multiple parents in an indented hierarchy and to derive a terminology from the UMLS (73%). Finally, auditing the UMLS is a top budget priority (35%) for users. CONCLUSIONS The study reports many uses of the UMLS in a variety of subjects from terminology research to decision support and phenotyping. The study confirms that the UMLS is used to access its source terminologies and to map among them. Two primary concerns of the existing user base are auditing the UMLS and the design of a UMLS-based derived terminology.

[1]  James Geller,et al.  Semantic refinement and error correction in large terminological knowledge bases , 2003, Data Knowl. Eng..

[2]  Chris Stolte,et al.  Design choices when architecting visualizations , 2003, IEEE Symposium on Information Visualization 2003 (IEEE Cat. No.03TH8714).

[3]  Andrew T. Norman,et al.  The Pass-Along Effect: Investigating Word-of-Mouth Effects on Online Survey Procedures , 2006, J. Comput. Mediat. Commun..

[4]  Alexa T. McCray,et al.  Representing biomedical knowledge in the UMLS semantic network , 1993 .

[5]  Olivier Bodenreider,et al.  The Unified Medical Language System (UMLS): integrating biomedical terminology , 2004, Nucleic Acids Res..

[6]  Randolph A. Miller,et al.  Making the Conceptual Connections: The UMLS after a Decade of Research and Development , 1998, J. Am. Medical Informatics Assoc..

[7]  D. Lindberg,et al.  The Unified Medical Language System , 1993, Methods of Information in Medicine.

[8]  James Geller,et al.  Research on structural issues of the UMLS - past, present, and future , 2003, J. Biomed. Informatics.

[9]  James J. Cimino.  Battling Scylla and Charybdis: the search for redundancy and ambiguity in the 2001 UMLS metathesaurus , 2001, AMIA.

[10]  Carole D. Hafner,et al.  The State of the Art in Ontology Design: A Survey and Comparative Review , 1997, AI Mag..

[11]  Betsy L. Humphreys,et al.  Technical Milestone: The Unified Medical Language System: An Informatics Research Collaboration , 1998, J. Am. Medical Informatics Assoc..

[12]  Olivier Bodenreider,et al.  Aggregating UMLS Semantic Types for Reducing Conceptual Complexity , 2001, MedInfo.

[13]  Li Zhang,et al.  Auditing concept categorizations in the UMLS , 2004, Artif. Intell. Medicine.

[14]  Olivier Bodenreider,et al.  Circular hierarchical relationships in the UMLS: etiology, diagnosis, treatment, complications and prevention , 2001, AMIA.

[15]  Alexa T. McCray,et al.  Mapping the Gene Ontology Into the Unified Medical Language System , 2004, Comparative and functional genomics.

[16]  A T McCray,et al.  The Representation of Meaning in the UMLS , 1995, Methods of Information in Medicine.

[17]  P L Schuyler,et al.  The UMLS Metathesaurus: representing different views of biomedical concepts. , 1993, Bulletin of the Medical Library Association.

[18]  J. Blake,et al.  Creating the Gene Ontology Resource : Design and Implementation The Gene Ontology Consortium 2 , 2001 .

[19]  Deborah L. McGuinness,et al.  Ontologies Come of Age , 2003, Spinning the Semantic Web.

[20]  James Geller,et al.  Auditing the UMLS for redundant classifications , 2002, AMIA.

[21]  Hua Min,et al.  Consistency across the hierarchies of the UMLS Semantic Network and Metathesaurus , 2003, J. Biomed. Informatics.

[22]  Betsy L. Humphreys,et al.  Achieving "Source Transparency" in the UMLS® Metathesaurus® , 2004, MedInfo.

[23]  James Geller,et al.  Representing the UMLS as an OODB: Modeling Issues and Advantages , 2000 .

[24]  Yue Wang,et al.  Research Paper: Auditing as Part of the Terminology Design Life Cycle , 2006, J. Am. Medical Informatics Assoc..

[25]  James A. Hendler,et al.  Spinning the Semantic Web: Bringing the World Wide Web to Its Full Potential , 2002 .