PS10. PREVENTION OF INHERITED DISORDERS AND CONGENITAL ANOMALIES IN BULGARIA
IVO KREMENSKY Laboratory of Molecular Pathology, Molecular Medicine Center, Medical University-Sofia, Bulgaria email: kremensk@medfac.acad.bg
*Corresponding Author:
page: 20

Abstract

The Bulgarian Medical Care system has been constantly reformatted in the last fifteen years experiencing limited funding, large debts, lack of appropriate investment strategy and inefficient management, leading to unsatisfactory prevention policy towards genetic disorders. Facing the major social problems this could create in the future, special efforts were made in this area. Since year 2000, two National programs for prevention of genetic disorders and congenital anomalies were funded by the Bulgarian Ministry of Heath. These programs concentrate the genetic diagnostic and prevention activities in five major centers affiliated to the medical universities of Bulgaria. The Ministry of Health provides funds necessary for pro gram implementation, while the general coordination and operational activities are dedicated to the Laboratory of Molecular Pathology, as the National Genetics Laboratory of Bulgaria. The Programs include mass neonatal screening for PKU and hypothyroidism, mass prenatal serum screening for Down syndrome and neural tube defects, selective screening for inherited metabolic disorders, prenatal DNA screening for the most common aneuploidias, pre- and postnatal DNA diagnosis of monogenic disorders, tests for genetic predispositions for common disorders, establishment of a National DNA bank and genetic registry. In parallel, several important lows were introduced in the Bulgarian legislation, regulating the genetic tests and biomedical research with human subjects. Special efforts were made for implementation of molecular medicine courses in students' education and postgraduate training of health specialists, as well as increasing public awareness on the problems of genetic testing and up-to-date prophylaxis and diagnostics of congenital diseases and malformations.




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