This article discusses how cultural concepts of marriage and reproduction play a primary role in how genetic disorders are regarded in Japan. The article examines the anxieties that accompany the taking of genetic tests in the context of Japanese cultural concepts of family, care and genetic disorders. The analysis draws on data from two studies conducted over two years (2006–2008), based on semi-structured interviews with individuals affected by a genetic disorder, and a study of prenatal decision-making as regards the taking of tests during pregnancy, which also involved interviews with medical professionals, including certified clinical geneticists, genetic counsellors and scholars. A number of studies, as well as governmental documents, have emphasized the importance of respecting culture in dealing with a genetic disorder and genetic information. Though we regard respect for culture as important, we show that respect for culture might hide superstitions and culturally embedded prejudices about genetic disorders. We show this by analysing the given motivations of couples for taking a genetic test and by tracing the ways in which ‘genetic information’ is understood in a socio-cultural context.

Three patients with Gerstmann-Sträussler-Scheinker disease (GSS) caused by a serine-for-phenylalanine substitution at codon 198 of the prion protein gene (PRNP) were compared to 9 age- and education-matched non-mutation-carriers from the same large Indiana kindred (GSS–IK) on a comprehensive neuropsychological test battery. Clinically significant impairments in intelligence, secondary memory, attention and cognitive processing speed, executive ability, and manual motor skills were noted in 2 patients. The wide range and the severity of the cognitive deficits indicated generalized cerebral dysfunction consistent with global dementia. One patient, symptomatic for less than 1 year, had more selective deficits involving memory, motor skills, and verbal fluency, suggesting early subcortical involvement. (JINS, 1997, 3, 169–178.)