rss
JAMIA 2000;7:267-276 doi:10.1136/jamia.2000.0070267
  • Focus on Electronic Publishing
  • Model Formulation

GeneClinics

A Hybrid Text/Data Electronic Publishing Model Using XML Applied to Clinical Genetic Testing

  1. Peter Tarczy-Hornoch,
  2. Paul Shannon,
  3. Patty Baskin,
  4. Miriam Espeseth,
  5. Roberta A Pagon
  1. Affiliation of the authors: University of Washington, Seattle, Washington
  1. Correspondence and reprints: Peter Tarczy-Hornoch, MD, Department of Pediatrics, Division of Neonatology, Box 356320, University of Washington, Seattle, WA 98195-6320; e-mail: 〈ph{at}u.washington.edu
  • Received 18 August 1999
  • Accepted 10 January 2000

Abstract

GeneClinics is an online genetic information resource consisting of descriptions of specific inherited disorders (“disease profiles”) as well as information on the role of genetic testing in the diagnosis, management, and genetic counseling of patients with these inherited conditions. GeneClinics is intended to promote the use of genetic services in medical care and personal decision making by providing health care practitioners and patients with information on genetic testing for specific inherited disorders. GeneClinics is implemented as an object-oriented database containing a combination of data and semistructured text that is rendered as HTML for publishing a given “disease profile” on the Web. Content is acquired from authors via templates, converted to an XML document reflecting the underlying database schema (with tagging of embedded data), and then loaded into the database and subjected to peer review. The initial implementation of a production system and the first phase of population of the GeneClinics database content are complete. Further expansion of the content to cover more disease, significant scaling up of rate of content creation, and evaluation redesign are under way. The ultimate goal is to have an entry in GeneClinics for each entry in the GeneTests directory of medical genetics laboratories—that is, for each disease for which clinical genetic testing is available.

Footnotes

  • This work was supported by grant P41-LM06029 from the National Library of Medicine and the National Human Genome Research Institute.

Access policy for JAMIA

All content published in JAMIA is deposited with PubMedCentral by the publisher but with varying embargo times. Authors/funders may pay an Unlocked fee of $2,000 to make the article free on the JAMIA website and PMC immediately on publication. Research funded by government and other recognised agencies is deposited with a 12 month embargo. All other content is deposited with a 36 month embargo.

AMIA members log in here to access the full text of JAMIA.

Register for free content

Individuals may register for a free 30 day online trial to all content.

The Journal of the American Medical Informatics Association is published for the American Medical Informatics Association by BMJ Publishing Group Ltd.