Allele Frequency Analysis of Rare Diseases among the Japanese Population using the Direct-to-consumer Genetic Testing Information

Abstract

　There are 7,000 to 8,000 rare diseases globally, 95％ of which have no therapeutic options. Since 80％ of rare diseases are hereditary, information on pathogenic genes and their frequency is essential for drug discovery. As genetic data accumulated in direct-to-consumer (DTC) genetic testing services have been used for academic research mainly in Europe and the United States, we calculated allele frequencies of several genes related to rare diseases and hereditary diseases using genetic data gathered in a genetic testing service for the Japanese and compared them with previously reported data.

　Allele frequencies of CFTR, GBA, and BRCA1/2 were conventionally thought to be low in the Japanese, but our results were consistent with recent reports that they are as high as in the Western. Therefore, the information accumulated in the DTC genetic testing service is effective and valid for academic research on rare diseases in Japan.