Congenital genetic diseases have been neglected in the past because of their complexity and the difficulty of diagnosis, and the medical staff was often helpless to do anything for those patients. In view of this, the hospital established the Division of Pediatric Medical Genetics in January 1990, and in April 1992, set up a pediatric genetics laboratory, which was divided into three themes as research focus—molecular biological diagnosis, amino acid metabolism analysis, and genetic testing. In November of the same year, Dr. Fu-jen Tsai was officially recognized as a genetic medicine specialist, the first genetic medicine specialist accredited by the Pediatric Medical Genetics Committee in the central region.
In 1994, the Department of Health (DOH) identified the hospital as a qualified prenatal genetic testing institution, and designated the hospital as a referral and confirmation center for neonatal screening for G-6-PD deficiency in Nantou County and Miaoli County. In response to the flourishing development of molecular biotechnology, the original pediatric genetics laboratory was expanded in 1998 into a human genetics laboratory and the amniotic fluid room was expanded in early 1999 into a cellular genetics laboratory, during which time the hospital was selected by the DOH to establish a genetic health consultation center in central Taiwan. At the end of the same year, with the combination of cellular genetics, human genetics, and biochemical genetics characteristics, it was upgraded to the Department of Genetic Health. Moreover, the biochemical genetics laboratory purchased tandem mass spectrometers and became the first medical unit for the development of newborn screening by the tandem mass spectrometer. With the dawn of the post-genomic era, the integration of gene research, teaching, and therapy for the development of functional gene interpretation was an inevitable trend. In 1993, the Department of Genetic Health was officially renamed the Department of Genetic Medicine in response to future development needs.
The Department of Genetic Medicine boasts a complete system of diagnosis and treatment for genetic diseases. It provides prenatal diagnosis of genetic diseases and the examination, consultation, diagnosis, and medical treatment of congenital metabolic disorders. Genetic medicine mainly utilizes the most advanced molecular medicine technology to make accurate diagnosis of human gene mutation or deletion from the premarital to prenatal stages.
The services offered by the Department of Genetic Medicine include:
- Antenatal genetic diagnosis
- Diagnosis of biochemical genetic and congenital metabolic diseases