Chen Ayi of Hunan has been worried about it for a long time after getting a genetic test report. This report shows that her risk of esophageal cancer and cervical cancer is higher than that of the general population, and it is necessary to pay close attention to it and recommend a full-site genetic test for the disease.
With the rapid development of direct-to-consumer (DTC) genetic testing services, more and more people are doing cancer genetic testing like Aunt Chen. In many high-end medical examinations, this is even a standard item.
However, a recent study published in the journal Nature Genetics showed that a genetic diagnosis company reanalyzed the original data of 49 DTCs and compared them with clinical trial data. The result was only 60%. The pathogenic mutations are real and the remaining 40% are false positives, the vast majority of which are cancer-related genes. The first author of the article said that in this particular study, the false positive rate was so high that they were unexpected, which also made them worried about the accuracy of today's DTC genetic testing.
"40%" may not explain the problem
"The false positive 'error here' has two possibilities. One is to detect the original result. For example, the test results show that you have a genetic mutation that increases the genetic risk of breast cancer, but you don't actually have this mutation; another This is an error in interpretation, that is, a detected mutation is interpreted as a high risk, but in fact this mutation does not increase the risk.†WeGene co-founder Chen Gang said.
However, Chen Gang believes that this paper does not disclose enough comprehensive and complete information. “First of all, the paper does not say which company's test results are used for evaluation, so we don't know what detection and analysis methods they use. Any technology has its limitations, and it is done for individual lower quality sites. Evaluation does not explain the problem."
In addition, he mentioned that the journal is a journal of the American Society of Medical Genetics and Genomics, which has been opposed to DTC genetic testing services that do not require clinicians to participate. When the FDA issued a license to 23andme, it issued a statement expressing its opposition, so there is a potential conflict of interest.
"In the final analysis, genetic testing companies and products are not well-balanced. Domestically, it is not doing better than the United States in this respect. This requires the entire industry to establish norms, including testing techniques and data interpretation." Chen Gang said, however, this paper will be certain DTCs. It is not correct for a genetic testing product to have a "40% false positive error" on some of the sites.
More accurate testing depends on breakthroughs in basic research
Niu Gang, general manager of Beijing Niu Niu Gene Technology Co., Ltd., believes that "the data in this article is basically reasonable." "The application of consumer-grade genetic testing in the field of diseases depends on advances in basic research, and at present, our understanding of genes is still not enough," he said.
"This article at least shows that there are some problems in the current consumer-level genetic testing." 23 Zhou Fang, founder and CEO of Rubik's Cube, told the Science and Technology Daily reporter. He believes that there is currently no standard for consumer-grade genetic testing, especially in the detection of cancer genes. Because of the complex causes of cancer, the relationship between genetic mutations at certain sites and cancer has not been clearly studied, and the results of genetic testing are also unsatisfactory.
"Only one type of cancer genetic test is clinically meaningful." Zhou Kun analysis, that is, a clear family history, "for example, Angelina Jolie, her mother died of cancer, genetic testing showed that she has a Genes that greatly increase breast and ovarian cancer, in other cases, it is of little significance for healthy people to do cancer genetic testing."
Niu Gang also believes that genetic testing should be viewed rationally. "Some merchants over-exaggerate the role of genetic testing in order to sell instruments or services, which is unfavorable for popularizing consumer-grade genetic testing. Such testing is far from being a basis for diagnosis and treatment."
The industry calls for the introduction of industry specifications as soon as possible
"What we are focusing on now is to let consumers know about themselves, such as genetic characteristics, ancestral detection, etc." Zhou Kun said, "With the advancement of genetic technology, and the life database we build is growing, the future Will cut into more application areas, hoping that the current shortcomings in the consumer-level genetic testing field should not be the reason for people to reject this technology."
Chen Gang firmly believes that consumer-grade genetic testing can play an important role in disease diagnosis and health management. “With the increasing number of achievements in the life sciences, genetic testing technology will continue to improve. WeGene currently provides a variety of genetic testing programs such as ancestral analysis, nutrient metabolism, health risks, and hereditary diseases. It is also using Sanger et al. The clinical gold standard technology verifies some positive results, hoping to establish a more complete Chinese genome database, and promote the industry norms with the regulatory authorities to provide consumers with more accurate test results." (Technology Daily)
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