遺伝カウンセリングの現状―遺伝相談から遺伝カウンセリングへ―

抄録

Recently, the importance of hereditary diseases in clinical medicine has become more recognized. The reasons for this current tendency may include conditions such as the lesser number of children in a family, decrease in mortality rate due to infectious diseases in the newborn period, and recent advances of molecular biology, which allows us to deal with genetic problems. Gene therapy is not longer a dream for the treatment of genetic diseases. A few diseases are already being treated with gene therapy. However, these technical advances are applied to only a limited area of genetic medicine, which includes not only serious heritable diseases but also mild ones that are treatable with conventional therapies. Misinformation about genetic medicine propagated by the mass media easily misleads the people who have problems with genetic diseases. Thus, technical advances in basic medicine without a consensus of an acceptable philosophy has brought confusion in to the clinical fields of genetic medicine. Genetic counseling can bridge the world of advanced basic medicine and the present status of clinical medicine. Genetic counseling is a process of dialogue between a genetic counselor, who is a specialist in medical genetics, and a counselee, who has a problem with a genetic disease in his family member or himself. Genetic counseling can give evidence-based information on the mechanism and social backgrounds of an inherited disease. Not only does it give reasonable information, genetic counseling can also psychologically support those people who are facing genetic problems and help their autonomous decisions about the options for an appropriate future for the next generation.