Advances in Clinical Genomics
In recent years, genomic medicine has made remarkable progress and is beginning to be utilized for diagnosis and treatment in various fields including oncology, intractable diseases, perinatal and reproductive medicine. Although many people may have a difficult image of genome, individual differences in genome information can be interpreted as “constitution,” and it is now known that this “constitution” is involved in most diseases, with the exception of injuries, accidents, and other traumatic events. Because genomic information is so large, it requires a high level of specialized knowledge to analyze and accurately evaluate it. On the other hand, a lot of benefits can be derived if this large amount of information can be utilized for medical treatment.
Clinical genomics is the future of medicine that will utilize genome information not only for hereditary diseases but also for well-known diseases such as cancer and lifestyle diseases, and provide the best option for each patient (Fig. 1). On June 16, 2023, a law concerning the Genome Medicine Act was promulgated and enforced, and the whole country is now working to promote this new type of medicine.
Our Approach to Clinical Genomics
In October 1999, our clinic was the first in Japan to open a genetic counseling department as a model project of the national government. Subsequently, it was renamed the Division of Clinical Genetics in April 2016. Furthermore, in December 2022, it was renamed the Clinical Genomics Center, adding the Genome Analysis Department and the Data Management Department to the Genetic Counseling Department.
Currently, our center conducts more than 460 cases of genetic counseling per year, and the clients vary from congenital anomalies, neurological diseases, otolaryngological diseases, orthopedic diseases, and presymptomatic and prenatal genetic testing for inherited diseases. We also target diseases that do not have a definite genetic basis and provide counseling to those who do not have the disease. (Fig. 2)
We provide advanced medical care that conveys accurate medical knowledge to these people and offers necessary tests and treatments. Genomic medicine is a rapidly advancing field, and we will continue to further strengthen our capabilities.