Can genetic testing cure all diseases? Can accurately detect and diagnose genetic diseases, but not for all diseases.
Mrs. Li, who lives in Jinan's Tianqiao district in Shandong province, recently underwent a pregnancy genetic test. "I am a senior pregnant woman, afraid that the baby is unhealthy, strictly in accordance with the doctor's requirements for maternity testing." Ms. Li introduced, 20 weeks pregnant, the doctor through ultrasound found that the child's development is not normal, after non-invasive peripheral blood genetic screening, the fetus's chromosome 21 is abnormal, the risk of Down syndrome is very high, followed by amniocentesis to confirm the diagnosis, Ms. Li had to endure the pain of termination of pregnancy.
"The application of genetic testing in prenatal checkups can find out whether the fetus carries mutant genes that can cause serious diseases after birth, and if so, parents can choose to terminate the pregnancy to realize eugenics." Zhang Hongbing, a professor at the School of Basic Sciences at Peking Union Medical College, told reporters that clinically, genetic testing is to check the sequences of genes and compare them with the parameters of a healthy person to see if those sequences are changed. If there are changes, the mutated genes that can cause disease are identified, thus determining whether the person being tested is sick, such as some genetic diseases.
"Genetic testing does have high medical value." According to Yang Ling, president of Beijing Jiyinga Technology Co., Ltd, the causative genes of many genetic diseases are very clear, and genetic testing can accurately detect and confirm the diagnosis of genetic diseases. After being diagnosed, patients can receive targeted therapies 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, genetic variation does not necessarily produce disease, some genetic variation only indicates that individual traits are different, such as two people look different. Medically speaking, the vast majority of diseases have no relationship with heredity, but by external conditions and patients caused by physical changes later in life. In the case of breast cancer, for example, only 5 percent of patients have a family history of the disease.
Yang Ling believes that whether genetic testing is effective or not has to be judged from specific diseases and their scientific evidence and data accumulation. Complex diseases, such as hypertension, diabetes, heart disease and other diseases in general, have little to do with genes, genetic testing is difficult to predict and diagnose the disease.
At this stage, the mainstream clinical genetic testing organizations are doing tests for gene mutations that can cause diseases, rather than those nebulous association tests. To determine whether a gene mutation will cause a disease or not requires a high level of judgment, medical knowledge and clinical experience, etc., on the part of the analysts of the genetic test.
Can you also measure talent? "Gifted gene" test is not reliable, suspected of fraud, hype concept.
"I heard that the current genetic testing technology can detect the talent of children. I want to discover my son's talent earlier so that I can train him in a targeted way." Ms. Yang, who lives in Beijing's Chaoyang District, recently spent more than 5,000 yuan to give her 2-year-old son a "talent gene" test. Ms. Yang said, from an e-commerce platform to order payment, two days after the receipt of the sampling tool testing agency, in accordance with the instructions to the son to collect oral cells, and then sent to the testing agency, less than 20 days to receive a beautifully produced test report.
"The test report is more than 50 pages thick, with a large number of data tables and English words and phrases, much of which is unintelligible." Ms. Yang said the report included artistic strengths, IQ, sports strengths, personality tendencies, etc., with dietary advice and future career directions noted at the back of each test.
The reporter found that several e-commerce platforms have sold "gifted gene" test business, the price of each single from more than 2,000 yuan to more than 60,000 yuan. Among them, more than 60,000 yuan of genetic testing business claimed to be tested by overseas organizations, not only can detect the child's health, such as physical development, disease risk, etc., but also can detect the child's talent, such as sports potential, artistic talent, learning ability. The operation is very convenient, after the arrival of the use of testing tools sampling, and then sent back to the testing organization, after a period of time will be able to receive the test report.
Can genetic testing really "count" a child's talent?
"With the current level of science and technology, the 'talent gene' test is not reliable, allegedly fraudulent, speculative concepts, and charges are very high." Zhang Hongbing told reporters, "gifted gene" test is based on the genetic association analysis, and the association analysis only indicates a very slight possibility. Testing organizations to expand it, the plausible things into fact, into a variety of "talent gene", such as music gene, art gene.
In fact, there is no way to give an accurate answer to the question of which genes determine a person's talent and how, given the current state of science and technology. Relevant experts explained that, for example, IQ is closely related to genes, but IQ is determined by a combination of thousands of genes, and it is difficult to detect someone's IQ talent from the perspective of gene sequencing. On the contrary, a certain gene mutation resulting in a very low IQ is fully detectable, such as Down's syndrome, tuberous sclerosis, but this is the application of genetic testing in medicine.
How to be more organized? Both support and protection, but also reasonable regulation, calling for uniform standards.
With the progress of science, genetic testing has become a very important means of detecting and diagnosing diseases in the clinic. From the first human whole gene sequencing research cost more than 3 billion U.S. dollars to now a few thousand yuan can be realized, the cost of genetic testing is greatly reduced, the ordinary testing organizations can also be completed, and then produced some speculators, speculation on the concept of genetic testing to make money.
"At present, most of the companies in the genetic testing industry are seriously doing genetic testing programs, but there are also unregulated and uncritical companies." Yang Ling believes that genetic testing is an emerging industry, the technical threshold itself is high, and there is still a lag in regulation. The application of genetic testing in the clinic should be regulated in accordance with medical devices and diagnostic reagents, and there should be strict access standards for laboratories, testing personnel and reagents.
"Certain e-commerce platforms openly sell 'gifted gene' testing services, which itself shows that there are loopholes in management." Yang Ling said that legitimate genetic testing requires four qualifications: the company's medical qualifications to engage in genetic testing, staff qualifications, project qualifications, and the qualifications of the reagents used. The "gifted gene" testing service has no program qualification, should not appear in the market. In the United States, this type of genetic testing only stays in the laboratory research stage, prohibited from entering the market to make money.
"The government should support and protect the genetic testing industry, but also reasonable supervision." Zhang Hongbing believes that the application of genetic testing in non-clinical new fields is still in the stage of laboratory research and data accumulation, if they are too tightly regulated and too many restrictions, it may hinder the development of technology. Genetic diseases, tumors, prenatal testing and other reliable areas of genetic testing should be vigorously supported, while the measurement of talent, know the life and death of no scientific basis for profit-making in the name of genetic testing should be severely cracked down on to curb.
Gene is the basic factor of life. With the development of life sciences and computer technology, genetic testing in the clinical aspects of the application will be more and more, its quality and credibility will be higher and higher. Industry experts said that at present, China also lacks the technical standards of genetic testing companies and market access standards, the relevant technical means of various organizations are very different, the level of uneven, there is an urgent need to establish a unified standard, such as technical standards, reagent standards, charging standards, etc., to promote the industry's safe, orderly and reliable development.