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

Abstract

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.

Author summary

Direct-to-consumer genetic testing in China has exploded over the past five years. Chinese DTC-GC users are overwhelmingly willing to participate in research initiated by service providers. As most of these users are non-Caucasian, we evaluated the reliability of GWAS-derived polygenic disease reports using populations of predominantly European ancestry and found that prediction power increased alongside new GWAS loci integration. In assessing the outcomes of different GWAS, replicability varied among studies with different ethnic backgrounds and sample sizes. We speculate that Chinese DTC-GT databases represent valuable biobanks for genetic studies and clinical applications.

Graphical abstract

Keywords

DTC-GT; biobank / Chinese population / polygenic risk / GWAS replication

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SUPPLEMENTARY MATERIALS

The supplementary materials can be found online with this article at https://doi.org/ 10.1007/s40484-020-0209-2.

ACKNOWLEDGEMENTS

We thank all WeGene users who consented to share their genotype and phenotype data for research purposes.

COMPLIANCE WITH ETHICS GUIDELINES

The authors Kang Kang, Xue Sun, Lizhong Wang, Xiaotian Yao, Senwei Tang, Junjie Deng, Xiaoli Wu, and Gang Chen work for WeGene (Shenzhen Zaozhidao Teehnology Co. Ltd. or Shenzhen WeGene Clinical Laboratory).

All procedures performed in studies were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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