GeneClinics: A hybrid text/data electronic publishing model using XML applied to clinical genetic testing

GeneClinics is an online genetic information resource consisting of descrip tions of specific inherited disorders ("disease profiles") as well as infor mation on the role of genetic testing in the diagnosis, management, and gen etic counseling of patients with these inherited conditions. GeneClinics is intended to promote the use of genetic services in medical care and person al decision making by providing health care practitioners and patients with information on genetic testing for specific inherited disorders. GeneClini cs is implemented as an object-oriented database containing a combination o f data and semistructured text that is rendered as HTML for publishing a gi ven "disease profile" on the Web. Content is acquired from authors via temp lates, converted to an XML document reflecting the underlying database sche ma (with tagging of embedded data), and then loaded into the database and s ubjected to peer review. The initial implementation of a production system and the first phase of population of the GeneClinics database content are c omplete. Further expansion of the content to cover more disease, significan t 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 i n the GeneTests directory of medical genetics laboratories-that is, for eac h disease for which clinical genetic testing is available.