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J Am Med Inform Assoc 2004;11:439-447 doi:10.1197/jamia.M1549
  • The Practice of Informatics
  • Application of Information Technology

Design of Genetics Home Reference: A New NLM Consumer Health Resource

  1. Joyce A Mitchell,
  2. Jane Fun,
  3. Alexa T McCray
  1. Affiliations of the authors: University of Missouri, Columbia, MO (JAM); National Library of Medicine, Bethesda, MD (JF, ATM)
  1. Correspondence and reprints: Joyce A. Mitchell, PhD, 324 Clark Hall, Department of Health Management and Informatics, University of Missouri, Columbia, MO 65211; e-mail: <mitchelljo{at}health.missouri.edu>
  • Received 3 February 2004
  • Accepted 30 June 2004

Abstract

The authors have developed the Genetics Home Reference, a consumer resource that addresses the health implications of the Human Genome Project. The research results made possible by the Human Genome Project are being made available increasingly in scientific databases on the Internet, but, because of the often highly technical nature of these databases, they are not readily accessible to the lay public. The authors' goal is to provide a bridge between the clinical questions of the public and the richness of the data emanating from the Human Genome Project. The Genetics Home Reference currently focuses on single gene or polygenic conditions that are also topics on MEDLINEplus, the National Library of Medicine's primary consumer health site. As knowledge of genetics expands, the interrelationships between genes and diseases will continue to unfold, and the site will reflect these developments.

Footnotes

  • The authors thank the other members of the Genetics Home Reference team (M Cheh, SLH Davenport, E Dorfman, CM Fomous, J Gillen, N Ide, R Loane, R Logan, SM Morrison, DM Mucci, P Wolfe, K Zeng) as well as the expert reviewers.

  • * Based on a search in June 2004 of the LocusLink database (http://www.locuslink.ncbi.nlm.nih.gov_) with the query Disease_known AND Has_seq for the human species.

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