著者

KENTARO NAGAI MIKIHITO TANAKA ALESSANDRO R. MARCON RYUMA SHINEHA KATSUSHI TOKUNAGA TIMOTHY CAULFIELD YASUKO TAKEZAWA

出版者

The Anthropological Society of Nippon

雑誌

Anthropological Science (ISSN:09187960)

巻号頁・発行日

pp.220905, (Released:2023-01-17)

被引用文献数

4

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Direct-to-consumer genetic testing (DTC-GT) has rapidly become available and affordable throughout developed countries. However, comparative research on DTC-GT services beyond Western countries has remained scarce, particularly in East Asian countries such as Japan and China. Hence, this study’s hypothesis is that although DTC-GT services in three languages might utilize the same underlying testing technology, such services are likely to represent the social, economic, and political characteristics of each country. For the study, a total of 267 websites (182 English, 32 Japanese, and 53 Chinese) were analyzed and coded reflexively into five categories for content analysis before interpretation using cluster and factor analyses. The results demonstrated variation between the three languages that reflected their respective consumer cultures: English, Chinese, and Japanese genetic testing websites focused on empowerment and ancestry; cultural values, especially familism; and health and beauty, respectively.

著者

Yuki HITOMI Katsushi TOKUNAGA

出版者

The Japan Academy

雑誌

Proceedings of the Japan Academy, Series B (ISSN:03862208)

巻号頁・発行日

vol.93, no.9, pp.657-676, 2017-11-10 (Released:2017-11-10)

参考文献数

110

被引用文献数

3 6

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Human genome variation may cause differences in traits and disease risks. Disease-causal/susceptible genes and variants for both common and rare diseases can be detected by comprehensive whole-genome analyses, such as whole-genome sequencing (WGS), using next-generation sequencing (NGS) technology and genome-wide association studies (GWAS). Here, in addition to the application of an NGS as a whole-genome analysis method, we summarize approaches for the identification of functional disease-causal/susceptible variants from abundant genetic variants in the human genome and methods for evaluating their functional effects in human diseases, using an NGS and in silico and in vitro functional analyses. We also discuss the clinical applications of the functional disease causal/susceptible variants to personalized medicine.