title: A multifunctional system of the national genetic register.
abstract: The National (Federal) Russian Genetic Register operates as a multifunctional system. It is designed for finding solution to the following key problems: 1. Information provision to watch families having children with hereditary and congenital diseases. 2. Follow up of the diagnostic process (including that associated with molecular-cytogenetic studies) and making predictive decisions concerning a risk of hereditary disease in the family. 3. Monitoring of new cases of congenital/hereditary disease under the effect of genotoxic and general toxic environmental factors. 4. Rendering consulting services to those concerned and reference information on the organizational/methodological problems. The relational database is composed of textual and graphical data. This enables the doctors to enter and review the pedigree in the form they have got accustomed to. Numerous built-in classification schemes help simplify and speed up the completion of the medical records. An additional information can be entered in the textual form. When requested by the user, the information about the patient and his (her) family, stored in the database, can be displayed as a summary document (a statement). To do so, a special algorithm based on the results of the logical information analysis, as well as medical history of the patients themselves and their families' members has been put forward. The document thus compiled is open for being edited by the doctor. The local computer network is operated in the "user-server" mode. For information protection purposes, an authorized access system has been devised to protect various data categories. The software tools operate in the Windows environment for IBM-compatible personal computers. Also, use is made of Microsoft SQL-Server, Visual Fox-Pro 3.0, Visual C+2 2.1, and FORTRAN 5.1. The doctor decision modules are activated with mathematical models, an expert system, and a self-learning recognizing system. The Windows NT system is a choice for the existing Federal and Regional Genetic Centers. For territorial consulting purposes other alternatives might be Windows for Workgroup 3.11 or Windows 95. The local computer networks in individual organizations will be integrated to form a Corporate Medical Genetics Service of Russia. The system is to be completed before the year 2000 in a number of phases. Up to now, program packages for family database management and recurrent risk calculations have been worked out and tested.
authors.affiliation: Medical Center of New Information Technologies, Institute of Pediatrics and Child's Surgery, Moscow, Russia.
authors.forename: B
authors.initials: B
authors.lastname: Kobrinsky
authors.forename: I
authors.initials: I
authors.lastname: Tester
authors.forename: N
authors.initials: N
authors.lastname: Demikova
authors.forename: Y u
authors.initials: Yu
authors.lastname: Sedov
authors.forename: B
authors.initials: B
authors.lastname: Marjanchik
authors.forename: L
authors.initials: L
authors.lastname: Taperova
authors.forename: Y u
authors.initials: Yu
authors.lastname: Glukhovskaya
authors.forename: M
authors.initials: M
authors.lastname: Podolnaja
mesh_terms: D019992:Databases as Topic; D003658:Decision Making, Computer-Assisted; D005103:Expert Systems; D005817:Genetic Counseling / Q000458:organization & administration; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology; D005820:Genetic Testing; D006801:Humans; D012042:Registries; D012306:Risk