Systematic evaluation of personal genome services for Japanese individuals

摘要: Disease risk prediction (DRP) is one of the most important challenges in personal genome research. Although many direct-to-consumer genetic test (DTC) companies have begun to offer services for DRP, there still no consensus on what constitutes a gold-standard service. Here, we systematically evaluated distributions DRPs from three DTC companies, that is, 23andMe, Navigenics and deCODEme, 22 diseases using Japanese samples. We quantified analyzed differences between each company’s DRPs. Our independency showed overall results were correlated with other, but not perfectly matched; less than onethird mismatching opposite direction occurred eight diseases. Moreover, found could mainly be attributed four factors: (1) single nucleotide polymorphism (SNP) selection, (2) average estimation, (3) disease calculation algorithm (4) ethnicity adjustment. In particular, only 7.1% SNPs over reviewed by all companies. Therefore, development universal core list non-Caucasian samples will achieving better capacity This systematic methodology provides useful insights improving future services.