Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan

A follow-up nationwide survey on predictive genetic testing for late-onset neurological diseases in Japan was conducted. A questionnaire was sent to 89 institutional members of the Japan's National Liaison Council for Clinical Sections of Medical Genetics, and was returned by 60 (67.4%). A total of 301 clients with an interest in predictive testing were accumulated from April 2006 to March 2011. The greatest interest was shown for spinocerebellar degeneration (SCD, n = 110), followed by myotonic dystrophy type 1 (DM1, n = 69), Huntington's disease (HD, n = 52) and familial amyloid polyneuropathy (FAP, n = 35). The ratios of clients who actually underwent predictive testing were: SCD, 21.8%; DM1, 39.1%; HD, 26.9%; and FAP, 74.3%, indicating that predictive testing was conducted very cautiously for untreatable neurological diseases in Japan. Clinical geneticists were predominantly involved in genetic counseling, whereas the participation of non-medical doctor (non-MD) staff, including nurses, clinical psychologists and genetic counselors, was not common. Lack of non-MD counseling staff was one of the most serious issues in conducting predictive testing, which has not been improved since the previous survey performed in 2006. Institutional arrangements, such as revision of medical insurance system regarding genetic testing and counseling, might be necessary to resolve this issue.ArticleJOURNAL OF HUMAN GENETICS. 58(8):560-563 (2013)journal articl

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

The management of secondary findings (SFs), which are beyond the intended purpose of the analysis, from clinical comprehensive genomic analysis using next generation sequencing (NGS) presents challenges. Policy statements regarding their clinical management have been announced in Japan and other countries. In Japan, however, the current status of and attitudes of clinical genetics professionals toward reporting them are unclear. We conducted a questionnaire survey of clinical genetics professionals at two time points (2013 and 2019) to determine the enforcement of the SF management policy in cases of comprehensive genetic analysis of intractable diseases and clinical cancer genome profiling testing. According to the survey findings, 40% and 70% of the respondents stated in the 2013 and 2019 surveys, respectively, that they had an SF policy in the field of intractable diseases, indicating that SF policy awareness in Japan has changed significantly in recent years. Furthermore, a total of 80% of respondents stated that their facility had established a policy for clinical cancer genome profiling testing in the 2019 survey. In both surveys, the policies included the selection criteria for genes to be disclosed and the procedure to return SFs, followed by recommendations and proposals regarding SFs in Japan and other countries. To create a better list of the genes to be disclosed, further examination is needed considering the characteristics of each analysis

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan

A follow-up nationwide survey on predictive genetic testing for late-onset neurological diseases in Japan was conducted. A questionnaire was sent to 89 institutional members of the Japan's National Liaison Council for Clinical Sections of Medical Genetics, and was returned by 60 (67.4%). A total of 301 clients with an interest in predictive testing were accumulated from April 2006 to March 2011. The greatest interest was shown for spinocerebellar degeneration (SCD, n = 110), followed by myotonic dystrophy type 1 (DM1, n = 69), Huntington's disease (HD, n = 52) and familial amyloid polyneuropathy (FAP, n = 35). The ratios of clients who actually underwent predictive testing were: SCD, 21.8%; DM1, 39.1%; HD, 26.9%; and FAP, 74.3%, indicating that predictive testing was conducted very cautiously for untreatable neurological diseases in Japan. Clinical geneticists were predominantly involved in genetic counseling, whereas the participation of non-medical doctor (non-MD) staff, including nurses, clinical psychologists and genetic counselors, was not common. Lack of non-MD counseling staff was one of the most serious issues in conducting predictive testing, which has not been improved since the previous survey performed in 2006. Institutional arrangements, such as revision of medical insurance system regarding genetic testing and counseling, might be necessary to resolve this issue.ArticleJOURNAL OF HUMAN GENETICS. 58(8):560-563 (2013)journal articl

地方都市中学生における食育課題の男子・女子間の比較検討

OBJECTIVE: We investigated dietary consciousness, dietary behavior, dietary environment and students feeling about their own health in Japanese male and female junior high school students, and examined the differences and similarities between the two gender groups to understand what we need to do in dietary education. METHODS: The survey was conducted during the month of October, 2006. Participants: The subjects were 477 junior high school boys (257) and girls (220) (age 12-14 years). Measure:1.We gave subjects a questionnaire of 68 questions asking about their perceptions of their own weight, dietary consciousnesses, dietary behavior, dietary environment, how healthy they believed themselves to be, and their lifestyles.2.Age, height and body weight were measured or supplied by the subjects teachers. Subjects whose weight was greater than or equal to 120% of the baseline degree of obesity as determined by the Ministry of Education were considered to have a tendency toward obesity, and subjects whose weight was less than or equal to 80% of the Ministry of Educations baseline degree of obesity were considered underweight. The TANITA scale was used and BMI was calculated based on the degree of obesity as established by the Japan Society for the Study of Obesity. RESULTS:1.Significant differences were observed between the two gender groups in the disparities between their classification of their own body types and their actual BMI scores (p<0.001). Many girls perceived themselves as overweight even though their weight was at an appropriate level.2.Significant differences were observed between the two groups in the subjective symptoms (p<0.001). Many girls claimed that their health condition was poor.3.Significant differences were observed between the two groups in their cooking skills (p<0.01). Fewer boys are able to cook than girls.4.Some other noteworthy results were obtained between the two groups about the degree of satisfaction with their lives and homes

地方都市と大都市における女子生徒の食育課題検出のための研究

OBJECTIVE: In this study we investigated dietary consciousness, dietary behavior, dietary environments, life-style and subjects evaluation of their own health in Japanese urban and suburban adolescents to get ideas for improving dietary education for these groups.METHODS: The survey was conducted in October and November, 2006. Participant: The subjects were 262 urban junior high school girls (Age 13-14 yrs) and 220 suburban junior high school girls (Age 12-14 yrs). Measure: 1.The questionnaire consisted of 76 questions related to subjects dietary behavior, dietary environments, lifestyles, and their evaluation of their own health.2.Age, height and body weight were measured by their teacher. Subjects body weight was checked using the TANITA scale. And subjects BMI was calculated based on the degree of obesity as established by the Japan Society for the Study of Obesity. RESULTS 1.In urban areas a lot of students thought that they are overweight. They perceived themselves to be overweight even when they were not.2.More students in urban areas than in suburban areas did not understand how much one should eat and what would constitute overeating. 3.More than 50% of both suburban and urban subjects reported feeling irritated. Subjects also reported experiencing headaches, stiff shoulders, and backaches.4.All subjects reported being basically satisfied with their lives and families.5.Significantly fewer urban subjects than suburban subjects reported having breakfast and supper with their families. 6.50% of both groups reported having conversations with their families during meals and that they are happy at home