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

作     者：Kang Kang Xue Sun Lizhong Wang Xiaotian Yao Senwei Tang Junjie Deng Xiaoli Wu WeGene Research Team Can Yang Gang Chen Kang Kang;Xue Sun;Lizhong Wang;Xiaotian Yao;Senwei Tang;Junjie Deng;Xiaoli Wu;WeGene Research Team;Can Yang;Gang Chen

作者机构：Shenzhen WeGene Clinical LaboratoryShenzhen 518118China WeGeneShenzhen Zaozhidao Technology Co.Ltd.Shenzhen 518042China Department of MathematicsThe Hong Kong University of Science and TechnologyHong KongChina Hunan Provincial Key Lab on BioinformaticsSchool of Computer Science and EngineeringCentral South UniversityChangsha 410083China 

出 版 物：《Quantitative Biology》 (定量生物学（英文版）)

年 卷 期：2021年第9卷第2期

页      面：201-215页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 08[工学] 09[农学] 071007[理学-遗传学] 0901[农学-作物学] 0836[工学-生物工程] 090102[农学-作物遗传育种] 

主　　题：DTC-GT biobank Chinese population polygenic risk GWAS replication 

摘      要：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 *** 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 ***:We assessed DTC-GT market leaders in the *** China,user participation in research,and academic reports based on this *** also investigated DTC-GT end-user value by tracing key updates of companies provided via health risk reports and evaluating their predictive *** then assessed the replicability of several genome-wide association studies(GWAS)based on a Chinese DTC-GT ***:As recent entrants to the market,Chinese DTC-GT serv ice providers have published less academic research than their Western counterparts;however,a larger proportion of Chinese users consent to participate in research *** 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 *** among GWAS using the Chinese DTC-GT biobank varied by studied trait,population background,and sample ***: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.