基因醫學研究中心

Congenital and genetic diseases have been neglected in the past due to their variety and difficulty in diagnosis. Doctors are often at a loss when faced with patients in need of help. In view of this, the division of pediatric genetics was established in January 1990 and the laboratory of pediatric genetics was set up in April 1992, with molecular biological diagnosis, amino acid metabolism analysis, and cytogenetic examination as its three focuses on research and development. In November of the same year, Dr. Fu-jen Tsai was the first in central Taiwan to be officially recognized as a medical genetics specialist by the committee of pediatric medical genetics. In 1994, the Department of Health named the Hospital as a qualified prenatal genetics examination room, and designated it as a referral and confirmation center for neonatal screening of G-6-PD deficiency in Nantou and Miaoli counties. In 1998, due to the rapid development of molecular biotechnology, the original pediatric genetics laboratory was expanded into a human genetics laboratory, and in early 1999, the amniotic fluid laboratory was expanded into a cytogenetics laboratory, while the Hospital was selected by the Department of Health to set up a eugenic health consultation center in the central region. By the end of the same year, the cytogenetics, human genetics, and biochemical genetics were integrated to form the Department of Genetic Health. The biochemical genetics laboratory has also invested in the purchase of tandem mass spectrometers, becoming the first in Taiwan to develop neonatal screening with the equipment. The center, well equipped with the system of diagnosis and treatment of genetic disorders, provides the check-up, consultation, diagnosis and treatment of genetic diseases, prenatal diagnosis, and congenital metabolic disorders. Genomic medicine mainly uses the most advanced molecular medicine technology to make accurate diagnosis of human gene mutation or deletion from pre-marital and prenatal stages. Current genetic medicine services include pre-marital checkups and health counseling—chorionic sampling or amniocentesis for antenatal genetic diagnosis as a reference for future family planning—to determine whether a fetus has poor genes for biochemical genetic and congenital metabolic diseases.