Recent developments in molecular biology and human genetics allow the molecular-level understanding of diseases which were considered incurable in the past.

Moreover it became possible to make prenatal diagnosis, pre-manifestation diagnosis, and carrier diagnosis. Development of enzymatic preparations by gene recombination, gene therapy, deformity surgery, and transplantation led to drastic changes in treatment. It is also expected that the completion of human genome project (HGP) and successful advances in post human genome project will open a new era of personalized medicine in the 21st century.

Hereditary diseases require collaborative treatment of diverse specialties since they may invade multisystem. For accurate diagnosis, it is necessary to clarify priorities for treatments - specifically determining which test to conduct and which problem to handle first, examine natural courses of diseases and prognosis, evaluate recurrence in family members, and offer counseling about prenatal diagnosis, for instance. Furthermore, it become more and more important to evaluate genetic susceptibility of common diseases often resulted from genetic interactions and consult about how to improve environment and lifestyle.

AMC Medical Genetics Center undertakes diagnosis (various types of prenatal diagnosis including pre-implantation diagnosis, pre-manifestation diagnosis, carrier diagnosis, and pharmacogenetic DNA testing), treatment, prevention, and genetic counseling of congenital malformation syndrome, single gene disorders, chromosomal anomaly, hereditary eye diseases, hereditary neurological disorders, and hereditary neoplastic diseases through collaboration with diverse specialties.