Spend a few hundred dollars, receive a genetic kit, collect a little saliva or blood, and send it back to the genetic testing company for testing. After a while, you will get an analysis of your own genes, including risk, ancestral information, talent skills, emotional social... Recently, these genetic tests are very popular on the Internet, many online reds There are recommendations. With the continuous improvement of living standards, people began to pay more attention to and pay attention to their own health status, and genetic testing has also been sought after, and more and more people's lives have entered. However, the current market for genetic testing products is varied and the price difference is huge, making the public both curious and somewhat incomprehensible.
What can mysterious genes tell us? Can genetic testing really "decode life"? Can such a test result be unreliable? Can you believe it? The People’s Daily reported on the matter of genetic testing on April 16.
The era of genetic testing is coming
It takes only one day to measure a person's genome in 2014, and the current cost is expected to be reduced to $100.
What is a gene?
“The reason why each of us looks like our parents is because of heredity, and the substance that carries genetic information is the gene.†Chai Yingshuang, an industry expert and former director of clinical marketing strategy at Thermo Fisher China, explained that the human body Made up of proteins, proteins are derived from RNA, and RNA is derived from DNA. DNA is a double helix composed of four different bases according to different sequences. The order of this arrangement is genetic information. “Just like building a house with bricks, the difference in genetic sequences determines biodiversity and our manifestations in this world.â€
In the 1990s, the Human Genome Project was launched, which was to discover all human genes by detecting the 3 billion base pair sequences of human genomic DNA, and to find out their positions on the chromosomes, thereby deciphering all human inheritance. information. After more than a decade of hard work, after spending $3 billion, the Human Genome Project was announced. “With the continuous advancement of technology, in 2014, we only need one day to measure a person's genome, and the cost is around $1,000. Currently, the latest target is $100. So it can be said that the era of genetic testing has arrived. "Chai Yingshuang said.
Zhang Hongbing, a professor at the School of Basic Medicine of Peking Union Medical College, said that clinically, by examining the sequence of genes and comparing them with the parameters of healthy people, it is judged whether these sequences have changed, and then the mutations that cause disease are identified. "At present, genetic testing has significant effects in genetic disease screening, cancer treatment, finding infectious agents, and guiding individualized drugs."
For example, experts say that Down's syndrome is one of the highest birth defects in China. Women over the age of 35 are generally required to check the karyotype by doing amniocentesis. However, amniocentesis has a certain risk of infection or even abortion. "The blood of the fetus and the mother is exchanged through the umbilical cord. Therefore, there are traces of fetal DNA fragments in the mother's blood, which were not detected in the past. Now, genetic sequencing can be used for non-invasive prenatal screening to achieve prenatal and postnatal care," said Chai Yingshuang.
In addition to screening for genetic diseases in high-risk populations before delivery, tumors are also a genetically altered disease. Therefore, genetic testing can also play an important role in the diagnosis and treatment of tumors. Zhang Hongbing said: "For the emerging immunotherapy in recent years, detecting tumor mutation rate is an important auxiliary means. In the future, genetic testing may even help to achieve individualized immunotherapy. Everyone's genetic mutations may be different. Accurate medical methods enable precise identification and treatment."
In addition, gene detection technology provides a key technology for early detection of new pathogens and monitoring of pathogenic mutations. It is of great significance for the prevention and treatment of infectious diseases. Through genetic testing, it can also determine the sensitivity of patients to drugs and drug metabolism, and guide individualized drugs. .
Consumer-grade genetic testing products are mixed
Some claim to be able to detect early love, detect internet addiction, and actually have not much clinical application value.
Some of the genetic testing products currently popular in the market seem to have some "magic powers": detecting early love, detecting internet addiction, detecting singing and running, detecting anti-smog... people can't help but wonder, can genetic testing really fail?
Mr. Li, who lives in Shenzhen, once spent a total of 1999 yuan on an e-commerce platform to buy a disease-sensitive genetic test product. After collecting the blood sample with the simple blood collection instrument sent by the manufacturer, he got his test report in less than two weeks. The report suggests that the middle risk is 1 for liver cancer; the low risk is 4 for lung cancer, stomach cancer, intestinal cancer and esophageal cancer. "The report is a thick one. There are a lot of professional terms, data and charts that I don't understand. I don't know if the letter or not." Mr. Li said. Ms. Zhang from Beijing also spent 499 yuan to purchase a standard test package containing ancestral analysis, sports genes, and nutritional metabolism. After she put the saliva into the test tube and sent it for a week, the genetic testing company gave the test results: the Zuyuan component was 59.64% of the southern Han nationality, the endurance was moderate, the lactose metabolism was weak, and smoking was not easy to be addicted.
Chai Yingshuang believes that there are some mixed-quality genetic testing products on the market, and many of them can only be called “entertainment†products. Consumers can’t be too serious. Actually, there is not much clinical application value. .
Zhang Hongbing said: "For example, the popular 'natural gene' test, according to our current understanding of 'talent', does not have enough basis to determine which genes are determined by which genes and how to decide."
Even the detection of tumor susceptibility genes is currently quite controversial. "The basic theory of the relationship between tumor and gene is still insufficient. It is considered that there are almost no genes related to tumor-associated biomarkers." Chai Yingshuang believes that the definition of "cause susceptibility gene" has a causal definition. As a large-area routine screening of tumors, the convincing power is limited. Even if done, the exact relationship between genetic results and tumors is difficult to say clearly. In addition, tumor formation requires a long process, which is the result of the interaction between the human body and the external environment. There are no ways to estimate the environmental factors using genetic testing. "The family history of cancer is related to heredity, but detection like hereditary breast cancer is not so much a tumor genetic test as it is a genetic test for a broad sense of genetic disease."
In addition to a wide variety of genetic testing products, prices range from a few hundred dollars to tens of thousands of dollars, and the items that can be detected are almost all-encompassing. "At present, the 'moisture' of the price of genetic testing products is very large." Zhang Hongbing believes that the market development of genetic testing is still not perfect, and the transparent price mechanism has not been formed. Many manufacturers do not sequence or cooperate in the absence of relevant qualifications. Analysis, but use the "gray industry chain" to send the specimen to other places, "the cost of sequencing is a few hundred dollars, but it may cost tens of thousands of dollars to consumers."
Technology catching up, industry regulation is imminent
It should promote the establishment of a complete technical system and a standardized market system for genetic testing, and increase the scientific popularization of the public.
In recent years, genetic testing technology has developed rapidly and market demand has expanded dramatically. Technology catch-up and industry standardization have become very urgent issues.
Experts said that China's genetic testing field currently lacks a complete upstream and downstream technical system and a standardized market system. There is also a certain misunderstanding of the public's understanding of genetic testing.
The development of genetic testing technology in China is still at the stage of tracking, and we should continue to increase research and development efforts. "China's population base is large, and the advantages of big data are obvious. However, the sequencing instruments basically rely on imports. There is no complete technical system covering upstream and downstream. Operating costs, operation automation, data analysis and optimization, etc. are all large. Improve space." Zhang Hongbing said.
In terms of standardization construction, Chai Yingshuang suggested that medical technology must have a clear implementation subject and responsibility. Genetic testing has both clear clinical needs and uncertain clinical value. Therefore, in the future, it is very likely that a clear application will be carried out in clinical hospitals. Unclear applications will be restricted by other medical institutions. The third-party clinical inspection center that is vigorously developed by the state can better fill this gap.
“Currently, many genetic testing companies have only done the job of 'washing vegetables and picking vegetables'. They have to make various dishes and tell users how to eat. There is still a long way to go in the future.†Chai Yingshuang believes that genetic testing is only a problem. It does not solve the problem and needs to be combined with other clinical diagnosis and treatment methods to become a complete workflow, so that it can truly enter the clinical market. In addition, you can try to explore the application of gene sequencing in other fields, such as combining with commercial insurance, mining and utilizing data values ​​while respecting user privacy.
"From the perspective of the company itself, any enterprise should have a sense of social responsibility. New technologies should be used to solve social problems. It is not for the sole purpose of speculative profit. Irrational consumption and gray areas will not let A company has a long-term perspective." Chai Yingshuang said that for the public, it is necessary to abandon misunderstanding and misuse of genetic testing technology and participate more in the scientific popularization of genetic testing. "Genetic testing should take the 'reality road' well, so that patients with birth defects, genetic diseases, and targeted drugs can be used first to better integrate this technology into the social system and realize it in the far future. Our dreams, discover our flaws, and finally master our destiny." (People's Daily)
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