J.Jpn. Surg. Soc.. 119(2): 144-149, 2018

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Feature topic

FUNDAMENTALS AND PRACTICE OF GENETIC DIAGNOSIS

Genome medical applications in general practice in Japan are now becoming a reality. With genome analysis development due to the advent of next-generation sequencers, this technology can be used not only for diagnosing rare diseases but also for selecting optimal treatments for common diseases such as cancer and diabetes. Based on patients’ conditions, the genetic tests generally utilized for medical examinations are: 1) the “human genetic test” to detect germline mutations; 2) the “human somatic cell genetic test” to detect somatic mutations; and 3) the “pathogen genetic test” for obtaining genetic information on pathogens. To carry out genetic testing properly and effectively in Japan, while paying attention to implications of the genetic information obtained, the Guidelines on Genetic Testing and Diagnosis in Medical Care issued by the Japan Medical Association must be followed, particularly for human genetic testing. Recently, many medical institutions including all universities have established genetic clinical departments, and therefore it is now possible to receive genetic diagnoses nationwide. Cooperation with specialists such as medical geneticists and certified genetic counselors is required for the ongoing practice of continuously improving genetic medicine as part of routine examinations.

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