Provision of Medical Genetic Services in Thailand - Siriraj Experience. P. Wasant Dept Ped/Div Med Gen, Siriraj Hosp/Mahidol Univ, Bangkok, Thailand.
Genetic Services at the Department of Pediatrics, Siriraj Hospital Faculty of Medicine was established since 1960s , providing genetic counseling and cytogenetic laboratory. Since 1987 , the Clinical Genetic Services has expanded to include other areas with a mandate of providing for comprehensive genetic services with a primary role in genetic diagnosis , counseling and prevention 1. Genetic counseling program. 1.1 Genetics Clinic received referrals from Bangkok and provincial hospitals all over the country ; mainly systemic genetic disorders , dysmorphology , suspected chromosomal disorders , sex differentiation disorders and some cases of prenatal diagnosis. 1.2 Birth Defects Clinic (established in 1991) providing services for infants/children with cleft lip/palate , neural tube defects, arthrogryposis, congenital hip dislocation etc. 1.3 Genetic Skeletal Dysplasia Clinic (1992) providing services for infants/children with achondroplasia , osteogenesis imperfecta , pyknodysostosis , metabolic bone diseases e.g. mucopolysaccharidosis etc 1.4 Down Syndrome Clinic (1993) serving more than 500-600 families , providing genetic counseling , medical check up , referral to early stimulation program and assisting these children toward integration. 2. Genetic Screening program. e.g. newborn screening for genetic metabolic disorders (congenital hypothyroidism and phenylketonuria) is being planned for routine screen in year 2000 ; including prenatal genetic counseling and maternal serum screening for Down syndrome and Neural tube defect for pregnant women on voluntary basis. 3. Genetics laboratory. Initially only conventional cytogenetic analysis was performed, subsequently biochemical and molecular genetics laboratory is being established. Currently numerous genetic metabolic / inborn errors of metabolism e.g. amino acid , carbohydrate , urea cycle, organic acid, fatty acid oxidation, peroxisomal and lysosomal storage disorders are being identified. The Genetic Metabolic Center was established since June 2000 and has served infants / children with IEM all over the country. 4. Non-governmental organization. Down Syndrome Parents Support Group at Siriraj Hospital was founded in 1993 , providing for more holistic and personal services to individuals and their families.