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GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing
P Tarczy-Hornoch1, P Shannon, P Baskin
1Department of Pediatrics, University of Washington, Seattle 98195-6320, USA. pth@u.washington.edu
Summary
GeneClinics provides comprehensive online genetic information for inherited disorders, detailing genetic testing for diagnosis, management, and counseling. This resource aims to improve healthcare decisions by offering accessible genetic disorder data.
Area of Science:
- Genetics
- Medical Informatics
- Bioinformatics
Background:
- Genetic disorders require accessible, reliable information for healthcare providers and patients.
- Existing resources often lack comprehensive details on genetic testing and its implications.
- The need for a centralized, user-friendly platform for genetic disorder information is critical.
Purpose of the Study:
- To introduce GeneClinics, an online genetic information resource.
- To detail the structure and content acquisition process for GeneClinics.
- To outline the goals for expanding the GeneClinics database and its integration with genetic testing services.
Main Methods:
- Development of an object-oriented database storing disease profiles and genetic testing information.
- Content acquisition using templates, conversion to XML, and peer review.
- Web publishing of disease profiles via HTML rendering.
Main Results:
- Initial implementation of the GeneClinics production system is complete.
- The first phase of populating the database with genetic disorder content has been finalized.
- Ongoing efforts focus on content expansion, increased creation rates, and system redesign.
Conclusions:
- GeneClinics serves as a valuable online resource for inherited disorders and genetic testing.
- The platform is designed to support informed medical and personal decision-making.
- The ultimate aim is to encompass all diseases with available clinical genetic testing.