WorkshopsW6-3 Problems with terminology in the field of human genetics

In the Japanese-language nomenclature used for Genetics, some questions have arisen regarding the suitability of certain terms when used in translation, and the need for re-examination of these terms has been suggested. In particular, it has been considered that the Japanese terms yusei and ressei, translated as“domiant” and “recessive”, respectively, are liable to be misunderstood as “superior”’ and “inferior”. This is a problem of particular concern in the field of clinical genetics and genetic counseling. Also, the term totsuzen hen-i, meaning “mutation” in English, can be confusing, because the orighal derivation of the term mutation has no connotation with a “sudden” or “unexpected” nature implied in the Japartese term. Recently, the Japan Society of Human Genetics has proposed a revision of translated technical terms used in genetics, the details of which were introduced here.