北里大学大学院医療系研究科 臨床遺伝医学 教授 高田 史男 先生
Dr. Fumio`s work spans the broad areas of ethical and social problems in genetic testing caused by medical, non-medical services and marketing in Japan.
During his brief didactic presentation, Dr. Fumio spoke about the Human Genome Project (1990-2003), the International HapMap Project (2002-2008) and the 1000 genomes Project (2008-ongoing). He focused on current issues such as the prenatal screening for Down’s syndrome (DS) and the screening for Hereditary breast and ovarian cancer (HBOC) syndrome. He emphasizes that besides the test/diagnosis of DS holds many medical, social and ethical issues should be considered, the design of a test/diagnosis should be performed in accordance with the guidelines of the Japan Society of Obstetrics and Gynecology and others, and after providing the examinee with appropriate genetic counseling. For example, in an appropriate genetic counseling of the test/diagnosis of prenatal screening for DS, despite the genetic screening does not provide a definitive diagnosis, the risk factor for DS which also varies with maternal age are one of the things that should be included in genetic counseling. About HBOC syndrome he defined that is an inherited disorder that is mainly associated with tumors of the breasts and ovaries. In addition, he said that HBOC syndrome is mainly due to mutations in the BRCA1 and BRCA2 genes, however pathogenic variants have also been found in other genes.
He concludes this part of his speech by stating that about 60,000 people develop breast cancer yearly in Japan and despite efforts by the Japanese government in improving health system some innovations are necessary.
Professor Fumio Takada presents that the recent advances in studies on human genetics have led to the use of genetic information in various applications, such as direct-to-consumer (DTC) genetic testing or sales of genetic testing provided by the private sectors. The DTC refers to testing sold directly to consumers via the Internet, television, or other marketing venues without involving health care professionals. Although DTC sales of genetic testing may have potential benefits for consumers, for example, freedom of access, privacy and the use of a new technology in a more comfortable environment, some problems have been pointed out, such as the absence of guarantee of adequate counseling, the risk of being misled in the selection of tests and the interpretation of results, and the unclear clinical validity or usefulness of some commercially available tests. According to professor Fumio Takada, the important concepts to assess the benefit and risks of genetic testing are analytical validity, clinical validity, clinical utility and ethical social issues.
Finally, he concludes that is necessary to construct an appropriate system for the evaluation and provision of genetic testing. On the other hand, not only regulation but also sharing current problems about medical genetic services with genetic professionals and general practitioners are so important.
Professor Fumio Takada, thank you very much (“muito obrigado”) for your educational and insightful presentation. I am confident that the implementation of your presentation will result in an improvement in our research.
文責：脳機能開発研究分野 大学院生 河田 サントス ケルシ 人美
撮影：医用画像工学分野 大学院生 菊田 里美