An exploratory assessment of the applicability of direct-to-consumer genetic testing to translational research in Japan

Springer Science and Business Media LLC - 2021
Masahiro Inoue1, Shota Arichi1, Tsuyoshi Hachiya1, Anna Ohtera2, Seok-Won Kim2, Eric Yu2, Masatoshi Nishimura3, Kazuhito Shiosakai3, Takeshi Ohira3
1HealthData Lab, Yahoo! Japan Corporation, Kioi Tower, Tokyo Garden Terrace Kioicho, Tokyo, Japan
2Real World Evidence Solutions, IQVIA Solutions Japan K.K, Tokyo, Japan
3Daiichi Sankyo Co. Ltd., Tokyo, Japan

Tóm tắt

In order to assess the applicability of a direct-to-consumer (DTC) genetic testing to translational research for obtaining new knowledge on relationships between drug target genes and diseases, we examined possibility of these data by associating SNPs and disease related phenotype information collected from healthy individuals. A total of 12,598 saliva samples were collected from the customers of commercial service for SNPs analysis and web survey were conducted to collect phenotype information. The collected dataset revealed similarity to the Japanese data but distinguished differences to other populations of all dataset of the 1000 Genomes Project. After confirmation of a well-known relationship between ALDH2 and alcohol-sensitivity, Phenome-Wide Association Study (PheWAS) was performed to find association between pre-selected drug target genes and all the phenotypes. Association was found between GRIN2B and multiple phenotypes related to depression, which is considered reliable based on previous reports on the biological function of GRIN2B protein and its relationship with depression. These results suggest possibility of using SNPs and phenotype information collected from healthy individuals as a translational research tool for drug discovery to find relationship between a gene and a disease if it is possible to extract individuals in pre-disease states by properly designed questionnaire.

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