Asunto(s)
Enfermedades Genéticas Congénitas/diagnóstico , Pruebas Genéticas , Pruebas Genéticas/normas , Adulto , Niño , Femenino , Pruebas Genéticas/tendencias , Humanos , Recién Nacido , Masculino , Valor Predictivo de las Pruebas , Embarazo , Diagnóstico Prenatal/normas , Diagnóstico Prenatal/tendencias , Sensibilidad y EspecificidadRESUMEN
Helix (healthlinks.washington.edu/helix) is a web accessible database that serves as the main U.S. directory of laboratories offering genetic testing. The database was designed to address the previously unmet need for a centralized, continuously updated source of information about clinical and research genetic testing to keep pace with the rapid rate of gene discovery resulting from the Human Genome Project. The Helix project began in 1992 at the University of Washington and Children's Hospital and Regional Medical Center. It has evolved from a single user stand alone relational database to a fully Web enabled database queried and maintained via the web and linked to other web accessible genomic databases. As of February, 1998 it lists more than 500 diseases and 290 laboratories, with over 5,200 registered users making approximately 250 queries/day (90% via the Internet). We describe the iterative design, implementation, population and assessment of the database over a six year period.