Direct-to-consumer genetic testing in China and its role in GWAS discovery and replication

Background The direct-to-consumer genetic testing (DTC-GT) industry has exploded in recent years, initiated by market pioneers from the United States and quickly followed by companies from Europe and Asia. In addition to their primary objective of providing ancestry and health information to customers, DTC-GT services have emerged as a valuable data resource for large-scale population and genetics studies. Methods We assessed DTC-GT market leaders in the U.S. and China, user participation in research, and academic reports based on this information. We also investigated DTC-GT end-user value by tracing key updates of companies provided via health risk reports and evaluating their predictive power. We then assessed the replicability of several genome-wide association studies (GWAS) based on a Chinese DTC-GT biobank. Results As recent entrants to the market, Chinese DTC-GT service providers have published less academic research than their Western counterparts; however, a larger proportion of Chinese users consent to participate in research projects. Dramatic increases in user volume and resultant report updates led to reclassification of some users’ polygenic risk levels, but within a reasonable scale and with increased predictive power. Replicability among GWAS using the Chinese DTC-GT biobank varied by studied trait, population background, and sample size. Conclusions We speculate that the rapid growth in DTC-GT services, particularly in non-Caucasian populations, will yield an important and much-needed resource for biobanking, large-scale genetic studies, clinical trials, and post-clinical applications.