2022 Volume 32 Issue 1 Pages 76-85
The carrier of the genetic mutation of autosomal recessive disease is not affected by the disease. However, if two individuals who are gene carriers and have the same genetic mutation become a couple and have a child, the child has a one-in-four chance of developing severe symptoms of the disease. Consequently, since the 1970s in the United States as well as other countries, carrier screening has been conducted for specific ethnic and regional groups in an endeavor to know the risk of the disease beforehand. Recently, genetic analysis technology has become more advanced and the scope of carrier screening has been expanded to include the general population. The purpose of this paper is three-fold. First, the history and international trends of carrier screening are reviewed. Second, the guidelines for carrier screening employed in Japan and the United States are compared. Third, a summary of the ELSIs of gene carrier screening that have been discussed in previous studies are provided. Since carrier screening for the general population can also be introduced in Japan, not only for commercial purposes but also for medical reasons, it would be important to have open discussions on the ELSIs for gene carrier screening in Japan as well.
