Is genetic testing reliable? What genetic test is better?

Can genetic testing 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, recently had a genetic test during pregnancy. "I am an elderly pregnant woman, and I am afraid that my baby will be unhealthy. I will do 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 was not developing normally through B-ultrasound. After non-invasive peripheral blood gene screening, fetal chromosome 2 1 is abnormal, and the risk of Down syndrome is high. Then amniocentesis was diagnosed, and Ms. Li had to endure the pain to terminate her 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, gene 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 is any change, find out the mutant gene that can cause disease, so as to judge whether the subject is 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 his illness and reduce the pain caused by blind medical treatment.

So, can genetic testing detect all diseases?

"Genetic testing is not so' divine'." Zhang Hongbing said that genetic variation does not necessarily lead to diseases, and some genetic variations only indicate that individuals have different traits, such as two people who 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 the effectiveness of genetic testing depends on specific diseases and the accumulation of scientific evidence and data. Complex diseases, such as hypertension, diabetes and heart disease, have little to do with genes, so it is difficult to predict and diagnose diseases through genetic testing.

At present, the mainstream clinical genetic testing institutions are doing some genetic mutation tests that will cause disease, rather than those illusory correlation tests. To judge whether gene mutation will cause disease, analysts who need gene testing have high judgment level, medical knowledge and clinical experience.

Can you test your talent? The "natural gene" test is unreliable and suspected of kidnapping and speculation.

"I heard that the current genetic testing technology can detect the child's talent. 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 on an e-commerce platform, she received the sampling tools sent by the testing institution two days later, collected her son's oral cells 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, many of which are incomprehensible." Ms. Yang said that the contents of the report include artistic expertise, IQ, sports expertise and personality tendency. Dietary advice and future career development direction will be indicated after each test.

The reporter's investigation found that many e-commerce platforms sell "natural gene" testing services, and the price per order ranges from 2,000 yuan to 60,000 yuan. Among them, the genetic testing business of more than 60,000 yuan is claimed to be tested by overseas institutions, which can not only test children's physical development, disease risk and other health conditions, but also test children's talents, such as sports potential, artistic talent and learning ability. The operation is very convenient. After the goods arrive, sample them with testing tools and send them back to the testing organization. After a period of time, you can receive the testing report.

Can genetic testing really "calculate" a child's talent?

"At the current level of science and technology, the detection of' natural genes' is not reliable, and it is suspected of kidnapping and speculation, and the fees are very high." Zhang Hongbing told reporters that the detection of "natural genes" is based on gene association analysis, which only shows a very small 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 with the current level of science and technology. 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 a person's IQ talent. On the contrary, low IQ caused by gene mutation is completely detectable, such as Down syndrome and tuberous sclerosis, but this is the application of gene detection in medicine.

How to be more orderly? It supports both protection and reasonable supervision, and calls 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 dollars now, the cost of genetic testing has been greatly reduced, and ordinary testing institutions can also complete it, so some speculators have appeared 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 openly sell' natural gene' testing services, which in itself shows that there are loopholes in management." Yang Ling said that legal genetic testing requires four qualifications: doctor qualification, practitioner 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 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 we supervise them too strictly and restrict them too much, it may hinder the development of technology. Genetic testing in reliable fields such as genetic diseases, tumors and prenatal examination should be strongly supported, while behaviors that make profits without scientific basis under the banner of genetic testing, such as judging talents and knowing life and death, should be severely cracked down.

Genes are the basic elements of life. With the development of life science and computer technology, genetic testing will be applied more and more in clinic, 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.