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With the progress of technology and the sharp drop of cost, genetic testing has gradually moved from biomedical laboratory to clinic and approached the life of the general public. Under the reputation of "genetic testing can predict diseases" and "genetic testing can discover children’s talents", many institutions have also launched related services. What is the value of genetic testing? How can we make better use of and effectively supervise emerging technologies? Our reporter launched an investigation.
Can cure all diseases?
It can accurately detect and diagnose genetic diseases, but it is not suitable for all diseases.
Ms. Li, who lives in tianqiao district, Jinan, Shandong Province, recently had a genetic test during pregnancy. "I am an elderly pregnant woman, afraid that my baby is unhealthy, and I will have a prenatal examination in strict accordance with the doctor’s requirements." Ms. Li introduced that at the 20 th week of pregnancy, the doctor found that the child’s development was abnormal through B-ultrasound. After non-invasive peripheral blood genetic screening, the fetus’ chromosome 21 was abnormal, and the risk of Down’s syndrome was high. Then the amniocentesis was diagnosed, and Ms. Li had to endure the pain to terminate the pregnancy.
"Prenatal examination can find out whether the fetus carries a mutant gene that will cause serious diseases after birth. If so, parents can choose to terminate pregnancy and achieve prenatal and postnatal care." Zhang Hongbing, a professor at the School of Basic Sciences of Peking Union Medical College, told reporters that from a clinical point of view, genetic testing is to check the sequence of genes and compare them with the parameters of healthy people to see if these sequences have changed. If there are any changes, find out the mutated genes that can cause diseases, so as to judge whether the subjects are sick, such as some genetic diseases.
"Genetic testing does have high medical value." Yang Ling, president of Beijing Jiyinjia Technology Co., Ltd. believes that the pathogenic genes of many genetic diseases are very clear, and genetic diseases can be accurately found and diagnosed through genetic testing. After the patient is diagnosed, he can receive targeted treatment, so as to control the disease and reduce the pain caused by blind medical treatment.
So, can genetic testing detect all diseases?
"Genetic testing is not so ‘ God ’ 。” Zhang Hongbing said that genetic variation does not necessarily lead to diseases, and some genetic variations only indicate that individual traits are different, for example, two people look different. Medically speaking, most diseases have nothing to do with heredity, but are caused by external conditions and acquired physical changes of patients. Take breast cancer as an example, only 5% patients have a family history.
Yang Ling believes that whether genetic testing is effective depends on specific diseases and their scientific evidence and data accumulation. Complex diseases, such as hypertension, diabetes and heart disease, have little to do with genes, so it is difficult to predict and diagnose diseases by genetic testing.
At present, the mainstream clinical genetic testing institutions are doing some genetic mutation tests that will cause diseases, rather than those illusory correlation tests. To judge whether gene mutation will cause diseases, analysts who need gene testing have high judgment level, medical knowledge and clinical experience.
Can you test your talent?
The "natural gene" test is not reliable, and it is suspected of cheating and speculating on the concept.
"I heard that the current genetic testing technology can detect children’s talents. I want to discover my son’s talent early, so as to cultivate him in a targeted manner. " Ms. Yang, who lives in Chaoyang District, Beijing, recently spent more than 5,000 yuan on a "natural gene" test for her 2-year-old son. Ms. Yang said that after placing an order for payment from an e-commerce platform, she received a sampling tool from the testing institution two days later, collected oral cells from her son according to the instructions, and then sent them to the testing institution. In less than 20 days, she received a beautifully made test report.
"The test report is more than 50 pages thick, with a large number of data forms and English words, and many of them are incomprehensible." Ms. Yang said that the contents of the report include artistic expertise, IQ, sports expertise, personality tendency, etc. After each test, dietary advice and future career development direction are indicated.
The reporter’s investigation found that several e-commerce platforms sell "natural gene" testing services, and the price per order ranges from 2,000 yuan to 60,000 yuan. Among them, more than 60,000 yuan of genetic testing business claims to be tested by overseas institutions, which can not only test children’s health, such as body development and disease risk, but also test children’s talents, such as sports potential, artistic talent and learning ability. The operation is very convenient. After the arrival of the goods, use the testing tool to sample and send it back to the testing institution, and you can receive the testing report after a period of time.
Can genetic testing really "calculate" the child’s talent?
"With the current level of science and technology, ‘ Natural gene ’ The test is not reliable, and it is suspected of abduction and speculation, and the fees are very high. " Zhang Hongbing told reporters that the detection of "natural genes" is based on the association analysis of genes, and the association analysis only shows a very slight possibility. Testing institutions have expanded it, turned specious things into facts and turned it into various "natural genes", such as music genes and art genes.
In fact, it is impossible to give an accurate answer by the current level of science and technology. Relevant experts explained that, for example, IQ is closely related to genes, but IQ is determined by thousands of genes. From the perspective of gene sequencing, it is difficult to detect someone’s IQ talent. On the contrary, it is completely detectable that a gene mutation leads to a low IQ, such as Down syndrome and tuberous sclerosis, but this is the application of genetic testing in medicine.
How to be more orderly?
Both support protection and reasonable supervision, calling for unified standards.
With the progress of science, genetic testing has become a very important means to detect and diagnose diseases in clinic. From the first human genome sequencing research cost more than 3 billion dollars to several thousand yuan now, the cost of genetic testing has been greatly reduced, and ordinary testing institutions can also complete it, so some speculators have emerged to speculate on the concept of genetic testing to make money.
"At present, most enterprises in the genetic testing industry are seriously doing genetic testing projects, but there are also enterprises that are not standardized and rigorous." Yang Ling believes that genetic testing is a new industry with high technical threshold and lagging supervision. The clinical application of genetic testing should be supervised according to medical devices and diagnostic reagents, and there should be strict access standards for laboratories, testers and reagents.
"Some e-commerce platforms are publicly sold ‘ Natural gene ’ Detecting services, which in itself indicates that there are loopholes in management. " Yang Ling said that legal genetic testing requires four qualifications: medical qualification, employee qualification, project qualification and reagent qualification. The "natural gene" testing service has no project qualification and should not appear in the market. In the United States, this kind of genetic testing only stays in the laboratory research stage, and it is forbidden to enter the market to make money.
"The government should support the protection and reasonable supervision of the genetic testing industry." Zhang Hongbing believes that the application of genetic testing in new non-clinical fields is still in the stage of laboratory research and data accumulation. If they are supervised too strictly and restricted too much, it may hinder the development of technology. Genetic testing in reliable fields such as genetic diseases, tumors, and prenatal examination should be vigorously supported, while behaviors that make profits under the banner of genetic testing without scientific basis, such as measuring talent and knowing life and death, should be severely cracked down.
Genes are the basic factors of life. With the development of life science and computer technology, genetic testing will be applied more and more in clinical practice, and its quality and credibility will be higher and higher. Experts in the industry said that at present, China still lacks the technical standards and market access standards of genetic testing companies, and the relevant technical means of various institutions are quite different, and the level is uneven. It is urgent to establish unified standards, such as technical standards, reagent standards and charging standards, to promote the safe, orderly and reliable development of the industry.
■ Reporter’s Notes
The application of new technologies urgently needs innovative supervision.
In recent years, new technologies in the medical field, such as genetic testing and Internet medical care, have been applied continuously, allowing people to enjoy the health benefits brought by technological progress. The reason why new technology is "new" is because it has just appeared, there are still immature places and it is not well known by most people. Some speculators in the market can easily use information asymmetry to swindle and swindle under the banner of new technology. Many people are gullible, which may lead to a loss of money and a serious impact on their health.
The application of new technologies requires innovative supervision by relevant departments. We can neither let go, let the market grow wildly, nor control it to death, and restrain the development momentum of new technologies. It is necessary to evaluate the application of new technologies in a timely manner, and distinguish which are deterministic achievements and which are still in the testing and research stage. In view of the former, relevant standards should be formulated to make it develop steadily and healthily. For the frontier applications in the testing and research stage, we should standardize their operation and strictly prohibit them from entering the market in order to maintain a healthy and orderly market environment.
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