The role of consumer-oriented genetic testing in the recurrence of GWAS

QB | Frontier Research: The development of consumer-oriented genetic testing industry in China and its role in the discovery and recurrence of GWAS

QB | Frontier Research: The development of consumer-oriented genetic testing industry in China and its role in GWAS discovery and replication QB | Frontier Research: The development of consumer-oriented genetic testing industry in China and its discovery and replication in GWAS Current role

Paper Title: Direct-to-consumer genetic testing in China and its role in GWAS discovery and replication (Development of consumer-oriented genetic testing industry in China and its role in GWAS discovery and replication )

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

Journal: Quantitative Biology

Quantitative Biology Quantitative Biology Quantitative Biology

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

Posting time: 20 Jul 2020

DOI: 10.
1007/s40484-020-0209-2

10.
1007/s40484-020-0209-2 10.
1007/s40484-020-0209-2

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In recent years, the consumer-oriented genetic testing (DTC-GT) industry has exploded.
It was initiated by market pioneers in the United States and quickly followed by companies in Europe and Asia
.
In addition to the main goal of providing customers with ancestry and health information, the DTC-GT service has become a valuable data resource for large-scale population and genetic research

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Professor Gang Chen's groupfrom Central South University and Shenzhen WeGene Clinical Laboratory studied the cooperation intentions of DTC-GT market leaders and users in the United States and China, and evaluated the reproducibility of related GWAS analysis
.
Research results "Direct-to-consumer genetic testing in China and its role in GWAS discovery and replication" published in Quantitative Biology journal

.

Central South University, Shenzhen WeGene Clinical Laboratory Professor Gang Chen's research group Central South University, Shenzhen WeGene Clinical Laboratory Professor Gang Chen's research group "Direct-to-consumer genetic testing in China and its role in GWAS discovery and replication" "Direct-to- consumer genetic testing in China and its role in GWAS discovery and replication” ”Direct-to-consumer genetic testing in China and its role in GWAS discovery and replication” Quantitative Biology

Full text summary

Full text summary

In recent decades, technological innovations have enabled large-scale genetic screening, including population genomics and genome-wide association studies (GWAS).
These studies have greatly expanded our understanding of the genetic basis of common diseases and traits
.
In the past five years, China's DTC-GC business has shown explosive growth, and the vast majority of domestic DTC-GC users are willing to participate in research initiated by service providers

.

The authors of this article evaluated the reliability of reports of GWAS-derived polygenic diseases, and found that the predictive power increases with the integration of new GWAS sites, and the reproducibility of studies with different ethnic backgrounds and sample sizes is different

DTC-GT has sparked debates on the reliability of risk assessment, clinical utility, consumer perception and ethical issues

Figure 1: Annual consumer growth trends of major DTC-DC companies in the United States (A) and China (B)

Next, the author studied the research publication situation of DTC-GT in China and the United States (Figure 2)
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Related research focuses on human health, traits and behavior

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Figure 2: Comparison of scientific literature published by DTC-GT companies in the United States and China

The author also investigated the willingness of Chinese and American DTC-GT users to participate in genetic research
.
As of October 2019, 98.

0% of WeGene files (note: a user account may include multiple gene files) are accompanied by consumer consent to use gene and phenotypic data for related scientific research

Figure 3: Basic information and phenotype sharing recorded in the WeGene database

In addition, the authors evaluated the changes in the accuracy of the risk classification of three polygenic diseases of Alzheimer's disease (AD), type 2 diabetes (T2D) and schizophrenia (SP) as the sample size expanded
.
The results showed that: 1) The increase in the number of users did not change the overall polygenic risk score (PRS) distribution, but increased the smoothness (Figure 4)

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The results showed that: 1) The increase in the number of users did not change the overall polygenic risk score (PRS) distribution, but increased the smoothness (Figure 4)

Figure 4.

The PRS of the three polygenic diseases (AD, T2D and SP) as the sample size increases

2) Before and after the update of the report, the reclassification of disease risk levels was not serious, indicating that disease risk prediction has a certain degree of stability (Figure 5)
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2) Before and after the update of the report, the reclassification of disease risk levels was not serious, indicating that disease risk prediction has a certain degree of stability (Figure 5)
.

Figure 5.
The reclassification of the risk levels of the three polygenic diseases (AD, T2D and SP) before and after the report is updated

3) With the increase in the number of users and the integration of new GWAS results, the model's ability to predict the correlation between disease risk level and family history is expected to improve (Figure 6)
.

3) With the increase in the number of users and the integration of new GWAS results, the model's ability to predict the correlation between disease risk level and family history is expected to improve (Figure 6)
.

Figure 6.
The impact of the increase in the number of users and the update of reports on the correlation between AD prediction models and family history

In terms of the reproducibility of the GWAS study, the author selected 7 relevant studies from WeGene Biobank as verification, including single nucleotide polymorphisms (SNPs) originally found in the European population and studies with relatively small sample sizes
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The results show that for some small samples of East Asian GWAS, WeGene Biobank can be used as a data set for GWAS discovery and verification
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For some small samples of East Asian GWAS, WeGene Biobank can be used as a data set for GWAS discovery and verification
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Finally, the author believes that the DTC-GT market in the United States and China has grown rapidly between 2017 and 2018, and China may become a powerful force in the emerging DTC-GT market
.
However, there are some characteristics worth discussing: 1) The acceptance and popularity of DTC-GT in China is seriously biased towards young people, and more than 80% of them live in first-tier cities
.
The sloping age and residence composition limit the clinical research opportunities and applications of the Chinese DTC-GT population
.
This limits the reproducibility, scalability and reliability of the research results to a certain extent
.
2) The sloping age composition also brings some benefits, such as the openness and willingness of users to participate in data sharing, as well as feedback reports, third-party report participation, and phenotypic collection
.
3) The reproducibility of DTC-GT is generally optimistic.
However, the ethnic differences between China and the United States have led to some SNPs and disease associations that cannot be reproduced in WeGene user data.
The author proposes that the risk prediction model should be appropriately optimized for this feature
.
4) China's DTC-GT-based biobank has shown great potential in both academic and industrial aspects
.

Finally, the author believes that the DTC-GT market in the United States and China has grown rapidly between 2017 and 2018, and China may become a powerful force in the emerging DTC-GT market
.
However, there are some characteristics worth discussing: 1) The acceptance and popularity of DTC-GT in China is seriously biased towards young people, and more than 80% of them live in first-tier cities
.
The sloping age and residence composition limit the clinical research opportunities and applications of the Chinese DTC-GT population
.
This limits the reproducibility, scalability and reliability of the research results to a certain extent
.
2) The sloping age composition also brings some benefits, such as the openness and willingness of users to participate in data sharing, as well as feedback reports, third-party report participation, and phenotypic collection
.
3) The reproducibility of DTC-GT is generally optimistic.
However, the ethnic differences between China and the United States have led to some SNPs and disease associations that cannot be reproduced in WeGene user data.
The author proposes that the risk prediction model should be appropriately optimized for this feature
.
4) China's DTC-GT-based biobank has shown great potential in both academic and industrial aspects
.

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