Genetic testing can be fortune-telling? The controversy surrounding it has never stopped

Genetic testing can be fortune-telling?

Through a saliva, you can know your personality, blood type, memory is good, will you drink blush or even where the ancestors came from? The gene sequencing technology that sounds like "high on" is entering the lives of ordinary people, but the controversy surrounding it has never stopped.

Yang Yu, 35, is a technology enthusiast and has always been interested in Internet medical care. In 2015, at a startup salon, he heard about a startup called WeGene, which provides individuals with genetic testing services including ancestral analysis and disease risk prediction. Among them, the ancestral source is the first in China. "I really want to know where my ancestors came from?" He decided to give it a try.

Yang Yu's curiosity is also the eternal philosophical proposition of human beings for thousands of years: "Who am I? Where do I come from? Where do I go?" Since the 21st century, scientists from the United Kingdom and the United States have drawn the first human history. A genetic map, people began to believe that the answers to these questions are hidden in each of our genes.

Genetic testing refers to the detection of DNA molecules in human blood, body fluids or cells to determine whether there are mutations or susceptibility genotypes in these genes, which can be used to diagnose diseases, and can also be used to predict disease risk and evaluate the use of certain The efficacy and side effects of these drugs. The ancestral family source can be analyzed by detecting the haplotype classification of the Y chromosome, and the maternal ancestral source can be analyzed by detecting the haplotype mitochondrial classification.

In recent years, in the field of clinical medicine, genetic testing for non-invasive prenatal screening, individualized treatment of tumors, and diagnosis of genetic diseases has initially formed a relatively stable market structure. With the continuous development of biotechnology, the cost of genetic testing is falling sharply. At the same time, more and more people hope to learn more information from genes, from ancestral analysis to genetic diseases, from exercise, nutrition to personality, Talent, the gene sequencing technology that sounds like "high on" is entering the lives of ordinary people.

a secret revealed by a saliva

Yang Yu paid 999 yuan on the official website. A few days later, he received a box containing an instruction manual and a test tube. After repeatedly rubbing the upper and lower jaws with his tongue, he loaded a sufficient amount of saliva into the small saliva collector. Close the lid and gently shake for 5 seconds. The DNA sample stabilizer in the collector is completely fused with saliva and the sampling is completed.

Yang Yu sent the box containing his "Life Code" back to WeGene in Shenzhen. His genetic samples will be sent to the laboratory at Fudan University along with samples from other subjects. Through gene chip screening, the inspector will test 600,000 sites in each sample. (Note: The locus, the specific location of the gene on the chromosome. The difference in loci determines the individuality of each individual.)

"A foreign company called 23andMe is also doing this. WeGene claims to be China's 23andMe." Yang Yu's family has a history of cancer. On the one hand, he is curious about his ancestral source. He also wants to know what he will face. Health risks.

Yang Yu mentioned 23andMe, one of the most prestigious biotech companies in the field of genetic testing. In 2006, he was founded by the former wife of the Google co-founder Sergey Brin, Anne Wosicky. By mailing test kits and collecting saliva, they created a precedent for genetic testing directly to the average consumer and without leaving the house. It once set off a wave in the United States. At the end of 2008, Time magazine published the "50 most important inventions" of the year, and 23andMe's personal genetic testing services ranked first.

It is different from medical examinations and is much cheaper in terms of price. 23andMe's personal genetic testing service allows consumers to learn about their potential health risks, such as ancestral information and genetic diseases, for a few hundred dollars. In 2012, 23andMe even lowered the price of the test suite to $99, and its number of users quickly doubled in the following nine months.

Until the past two years, all kinds of genetic tests have quietly emerged in China. More and more young people like Yang Yu have come into contact with personal genetic testing products. They hope to find an unknown self by means of technology.

Chen Liang, co-founder of WeGene, told China News Weekly, "Most of our users come from first-tier cities such as Beishangguangshen, white-collar workers account for more than 60%, and more than 20-40 years old." In addition to genetic testing, They also provide free data interpretation services for users who have tested at 23andMe. Since last year, their database has accumulated more than 10,000 genomic data.

Three weeks after the sample was sent back, Yang Yu received an online report on more than 200 interpretations involving seven aspects: ancestral analysis, motor gene, nutrient metabolism, health risk, hereditary disease, drug response, and genetic characteristics. .

The results of scientific and technical tests on the saliva showed that he was "B-type blood, very few type A blood; excellent explosiveness and good memory; smoking is not easy to addiction, drinking may be blushing, dry earwax, exercise for weight loss Greater impact". These are in line with the facts.

In terms of ancestral sources, the report shows that his ancestors originated in Central Asia or North Asia from 17000 to 22,000 years ago, mainly in the Americas, most of Asia and North Africa, represented by Native Americans, Inuit and Kate. The crowd is homologous to Robert Oppenheimer, the father of the atomic bomb. However, he was extremely surprised. No one in the family has ever mentioned to him. From the northwest, except for 72.03%, he is of northern Han nationality, and 0.01% of them are Eskimos. There are still 27.93% of Korean descent!

"My father is a northerner (northwest) and my mother is a southerner (the Yangtze River valley). Why do I have so many Korean ancestry?" After consulting some friends in related fields, he learned that some of the history of the Northwest Minorities, because they have been fighting for many years, may migrate from the northwest to the northeast, and later to the Korean peninsula, resulting in "mixed blood." "I really didn't think it would be like this." Yang Yu told China News Weekly.

Johns Hopkins University conducted a survey of 1,046 customers and found that the three most important reasons people buy personal genetic testing services are: curiosity (94%), disease risk prediction (91%). Search for ancestral source/identity (90%).

How to understand genetic testing?

Yang Yu is a very healthy person. He does not drink alcohol, stays up late, has a light diet, and has regular habits of exercising. But he still doesn't understand why, from the age of 30, every time he has a physical examination, he often has high blood lipids.

The test report showed that his genetic locus rs144467873 carries a risk mutation, which means he is at risk of a rare hereditary disease "type B familial hypercholesterolemia".

"I think this is quite accurate." Although he can't conclude that the mutant gene is responsible for his high blood lipids, Yang Yu believes that there is some connection between the two.

The test report also showed that Yang Yu was 38% more likely to have sudden cardiac death than the average person. This made him somewhat surprised: there is no similar medical history in the family, and he does not have any symptoms of heart discomfort. But he still decided to pay more attention to it later.

Curiosity about one's own destiny is human nature. Facing a new technology that can “predict the future”, “measuring accuracy” is naturally one of the most concerned issues for users.

Some people are trying to change the fate of the future through genetic testing. The most famous example is the American movie star Angelina Jolie. Julie has a family history of breast cancer. Her mother had been fighting cancer for 10 years. At the age of 56, she died of ovarian cancer. In 2013, Julie found in her genetic testing that she had inherited a mutant cancer susceptibility gene, BRCA1, from her mother, and her chances of developing breast and ovarian cancer were as high as 87% and 50%. In order to reduce the possible risks, she decided to undergo preventive surgery to remove the bilateral breasts. Two years later, she underwent surgery again to remove the bilateral ovaries and fallopian tubes.

Julie's choice pushed the genetic test under the spotlight overnight, and it also caused great controversy. Is this practice to prevent problems before they happen? Is genetic testing giving people more initiative, or is it easier to get people into a sense of panic?

A year ago, 32-year-old Shenzhen white-collar Li Xiaona was a girl with a "weight base." At the beginning of the work, the bottleneck period, huge mental stress and irregular diet made her height of 168cm reach 78.8kg. She does not believe in the slimming method of acupuncture and diet pills, but lacks the motivation to exercise, and the weight has always been high.

Until she went to do a genetic test.

In December 2015, Li Xiaona conducted a motor gene test specifically for fat reduction in Meijia Gene. This gene company, which focuses on “health management”, designs a personalized slimming solution for each client for the purpose of genetic testing.

Genetic testing showed that her protein metabolism ability is high, and the absorption capacity and utilization rate of vitamins are low. According to this feature, the dietitian corrected her bad habit of not eating meat, eating staple food, and not eating dinner, and re-established a balanced diet for her.

The test results also showed that aerobic exercise had a low effect on her body fat consumption, while strength training had a high impact. This means that the previous "three days a week, a total of 30-50 minutes of aerobic exercise" training program is not applicable to her. In order to improve the efficiency of fat reduction per unit time, Li Xiaona began to walk to and from work to increase the intensity of aerobic exercise; at the same time, under the guidance of a fitness instructor, walked into the gym and trained equipment. She first discovered that she had not sweated for an hour before running, but her strength training was only over 20 minutes. She was already sweating.

She decided to stick to it. In 131 days, she successfully lost 19.2kg without deliberate dieting.

"In fact, science is only a means, the key is still depends on the individual's self-control. But genetic testing can let you know more about how your body is, so that you can do more with less, and you won't be as good as others." Li Xiaona told China Newsweek said. Nowadays, she no longer needs to lose weight, but the habit of healthy eating and regular exercise has been retained.

Is cutting-edge technology still "scientific fortune telling"?

In the forum of knowing or WeGene's official website, Chen Gang often receives various feedbacks from users: "My height is 180cm, it should be higher than the average. How can I measure that it is likely to be close to the average height?" There are 86 health risks, and I have 47 items with 'higher risk'. Is it not too much?” “Breast cancer risk is 86% higher than the average risk. Do I have to buy insurance quickly?”

He and his colleagues will explain to users over and over again that many physiological characteristics and disease risks are complex traits controlled by multiple genes. While being affected by genes, they are also affected by many factors such as human body environment and lifestyle. Therefore, genes do not mean everything, and their testing itself cannot be considered a clinical product.

This "uncertainty" makes this high-tech with a little "fortune-telling" taste. If the prediction of disease risk becomes a probabilistic problem, and there are various future unknowings, how much significance does such testing have?

Indeed, due to the limitations of humans on disease and genetic cognition at this stage, the "accuracy" of genetic testing is a widespread controversy in the scientific community. Even countries that started early in the field of genetic testing have been plagued by the same problems.

In 2013, American journalist Kira Beckoff published an article in The New York Times about her experiences: she also had three well-known individuals at 23andMe, Genetic Testing Laboratories ("GTL.") and Pathway Genomics. The genetic testing company tested it, but to her surprise, each company's test results were different.

23andMe's test results show that Beckoff has a 20.2% chance of developing psoriasis and 8.2% of the possibility of rheumatoid arthritis - both of them are more likely to be sick than ordinary women of the same race. Nearly doubled; but GTL. The test showed that her chances of suffering from psoriasis and rheumatoid arthritis were extremely low, only 2% and 2.6%.

In the case of coronary heart disease, 23andMe and GTL. The test results are basically the same, and her prevalence is between 26% and 29%, which is basically normal; but the Pathway Genomics test is “higher than average”.

Experts have said that this is not an accident. The total number of known or named genetic loci in the human body is nearly 60 million. The chip screening method commonly used by genetic testing companies only detects about 1 million sites, which means that the information obtained by itself is very limited. What's more, the number of sites detected by each company, the range of genes selected, the database of genes used, and the analytical methods are different, and the results must be different. On the other hand, for the pathogenesis of many complex diseases, the scientific community is still inconclusive at the level of basic research, and it is difficult to assert how much the gene plays a role in it.

Dr. Arthur Kepler, director of medical ethics at the University of New York at Lange Medical Center, even bluntly said: "This type of testing may be fun as an entertainment, but don't take it too seriously. Don't use it to guide your usual health care and Lifestyle. If you have a few hundred dollars and want to invest in your own health, you might as well buy a weight scale and stand up and see what you should do."

Yang Yu also encountered the same confusion. Shortly after receiving the test report from WeGene, he purchased an entry-level personal test product from Huada Gene. After the test, he found that the results of the two companies were not exactly the same as the health guidance for the analysis of several health conditions such as blood sugar and blood lipids.

“All the testing projects have a certain scientific foundation.” As a former vice president of Huada Technology, Chen Gang is an expert in the field of bioinformatics. In his view, the scientific nature of any genetic testing is related. On the basis of the progress of the research, the "accuracy" of different testing items cannot be generalized. For example, explosive and related motor genes, hereditary breast cancer and other testing projects, there have been very mature research to prove that there is a strong correlation between genes and genes; and some test content, although the academic circles have published relevant research papers, but because The scientific scale is relatively weak due to the fact that the scale of the study is not large enough and there are differences among different ethnic groups.

From this April Fool's Day, WeGene has added a new test to its test report: all male users can see their "Rainbow Index", the homosexual tendency. Although the calculation of this value is based on a series of studies on genes and sexual orientation, Chen Gang said frankly that this entertaining test is "in accordance with academic papers, it is nonsense."

"Our test results are relatively accurate based on at least the existing scientific results. There is no difference between the test methods and clinical products. But it is not a clinical product after all, and it has not undergone a lot of clinical experiments, so it is basically a reference. Significance.” Chen Gang told China News Weekly.

Genetic testing is not "all-powerful"

Despite the limitations, genetic testing is becoming “all-powerful” driven by the market.

Open web search and enter "gene detection". There are many kinds of detection products available on the market that are beyond imagination - "precisely predicting cancer, the accuracy rate is 99.9999%"; measuring emotional intelligence, measuring internet addiction, measuring whether children have Early love tendency; even can detect whether male or female personality is paired. In the advertisement, the merchant wrote: "By men and women paired with genetic testing, we can avoid waste of resources, save time in finding objects and fall in love, increase the success rate of matching, and greatly reduce the probability of marriage failure, and avoid divorce to the maximum extent. A series of social problems such as property division, child support, and emotional damage occur."

In the past two years, consumer genetic testing for the general public is becoming a rapidly rising blue ocean. Among the various tests, the most controversial in the market is the children's talent genetic test.

In September this year, the Olympic champion, "Fist King" Zou Shiming's wife Yan Yingying posted a genetic analysis chart on Weibo. Son Xuan Xuan participated in the genetic testing of a child's talent launched by a company. The results show that Xuan Xuan is very talented in language and mathematical logic. "Don't think about letting Xuan Ge inherit the clothes, don't waste talent, train him to be the host!" she wrote in a joke.

The company is the first genetic testing company listed in China and has been focusing on the clinical field. The set price of 6,800 yuan is one of a series of consumer-grade genetic testing products launched in recent years. It claims to be able to detect children's language, interpersonal, mathematical logic, music, etc. by detecting nearly 30 related gene loci. Smart talent in the field.

“For commercial purposes, our current knowledge has been distorted.” In September 2015, 24 scientists in the fields of genetics and sports medicine from the United Kingdom, the United States, Australia and other countries co-branded in the British Journal of Sports Medicine. Published a paper that publicly expressed concern about the detection of sports "natural genes" - ACTN3 is one of the most thoroughly studied motor genes in the scientific community and has been shown to be closely related to human muscles. Related, with the "golden gene". Many personal genetic testing companies claim to be able to determine whether they have athletic talent by testing whether they carry ACTN3. But scientists have made it clear that the information that such tests can provide is "meaningless" to predict a person's future athletic performance.

Despite this, similar genetic tests are everywhere in the country, and have appeared a few years ago, ranging in price from a few hundred dollars to tens of thousands of dollars. Although the market is hot, most people in the industry disagree with the statement about the detection of "natural genes."

In Chen Gang's view, not only "sports talent", in most other fields, most of the so-called "natural genetic testing" has greatly exaggerated its scientific basis, in order to judge a child's future is completely inappropriate. "Everyone knows that talent may be related to heredity, but our research has not progressed to know how this inheritance works. In the process of genetics, where and how the genome works, it does not reach this level at all. ."

In 2013, Huang Zhangjin, the founder of the Elephant Association, accepted two genetic tests. At that time, the domestic genetic testing of ordinary consumers is still in an experimental stage. After the test is completed, the testee gets the genetic code without any interpretation. For ordinary people who do not have professional knowledge, such The test report is no different from "Tianshu". "Give me a 14M text file, all code. You have to check it yourself. Detecting 800,000 sites, one is a line, and 99% of the sites are meaningless." Huang Zhangjin to "China News Weekly recalls.

Huang Zhangjin has always been very curious about genetic testing. In the past two years, there have been more and more consumer-grade inspection products on the market, and he has decided to incubate one such project: DNA of various colors.

Guo Tingting, the CEO of various technologies, told China News Weekly that the idea was that after examining the products already on the market, they found that each company failed to do the “content”, which is precisely the gene. Whether the test can be widely disseminated is the key to the public's understanding.

Unlike most test products on the market, they deliberately avoid common genetic disease prediction projects, and put the cuts into the harmless physiological and psychological characteristics of human beings. Sleep, obesity, and even concentration, whether it is more empathetic, whether it likes stimulation and adventure, some projects are similar to horoscopes.

Guo Tingting said that no matter domestic or foreign, the hotspots of genetic research are concentrated in the field of clinical diseases, and there are few studies on human physiology and psychological diversity. However, due to the strict control of genetic prediction and diagnosis of diseases in foreign countries, only a few congenital diseases have been approved for testing. Therefore, the number of people who have truly obtained millions of tests has appeared in the field of entertainment applications. At this stage, the detection of these items cannot accurately predict the status quo, regardless of disease susceptibility or physiological and psychological characteristics. In the case of the public's lack of correct knowledge of genes, the significance of genetic testing for understanding knowledge and as a discussion is far greater than accurate prediction.

"We are selling content, not the final diagnosis. We also hope that users can buy content from us." Guo Tingting said.

How far is it from a "precise" future?

In January 2015, US President Barack Obama announced in his State of the Union speech a grand blueprint for life sciences - "precise medical plan." One of the projects of the project is to create a genetic database covering more than 1 million people with detailed health information for disease research and personalized diagnosis and drug development.

A new era seems to be coming.

On the other hand, a report released by consulting firm Credence Research in May 2016 shows that by 2022, the global mass consumer-grade genetic testing market will reach $340 million.

As the biggest giant in this field, as of last year, 23andMe has 1.2 million individual DNA gene data information. After the user agrees, their information will be provided to the researcher. Currently, 23andMe is also conducting research on the effects of drugs on different patients.

Behind all this is the strict supervision from the government. In November 2013, the US Food and Drug Administration (FDA) issued an injunction to 23andMe for the purpose of determining the accuracy of its testing products and data analysis, requiring it to stop providing users with health-related testing and analysis, and only provide ancestral analysis. Equally entertaining data interpretation services and raw data detected.

The ban lasted until October 2015. After giving two academic findings and several samples to prove the correctness of the test, 23andMe was re-allowed to provide non-medical features (such as freckles, hair curl, lactose intolerance, etc.) and some hereditary diseases. Information report, but the statement that “the risk of XXX disease is ××%” is not allowed in the report.

In contrast, the standardization of the domestic genetic testing industry still has a long way to go.

In February 2014, the State Food and Drug Administration (the “Food and Drug Administration”) and the National Health and Family Planning Commission jointly issued a notice requesting that any medical institution should not carry out clinical application of gene sequencing, and the already carried out must stop immediately because the relevant Products and technologies have not been approved and are illegal.

At that time, because genetic testing was not included in the scope of clinical testing, service charges were confusing, and the testing process was not standardized, but such a “one size fits all” approach caused huge controversy in the industry. Only four months later, the Food and Drug Administration approved the second-generation gene sequencing products to go on the market. In the first half of 2015, the National Health and Family Planning Commission released a list of pilot applications for gene sequencing.

Up to now, the domestic regulatory policy for the mass consumer-level genetic testing field is still unclear. Due to the lack of uniform national standards and industry norms suitable for market demand, this “low threshold” market is still difficult to get rid of the mixed and chaotic images. situation.

“I feel that regulation will gradually tighten. Just like the FDA administered 23andMe and all consumer-oriented genetic testing products. For example, in the test report, subjective judgment should be minimized, for example, all genetic testing experiments should be met. The laboratory must be required to do it.” Chen Gang analyzed the China News Weekly. Different countries have different supervision methods for the supervision of this field. Relevant departments should also develop in this direction. “Better supervision may be possible. As in the United States, tightening some is actually beneficial."

Chen Gang said that in the next step, they will reduce the number of items in the test report that are not scientifically sound, and provide users with the most useful and reliable information possible. He is not satisfied with simply making a company that provides personal genetic testing services and doing a business – he wants WeGene to build a high-quality genetic database. At this stage, most of the scientific research related to genes is carried out for European and American races. If a database of Asian races can be established, the genetic test results of Chinese people will inevitably become more accurate, and various studies based on this will be more targeted. Sex, these data can even really affect people's health and life.

This is also the desire of "all kinds of DNA": while fully cultivating the market, accumulate massive behaviors and genetic data, so that genetic data can generate greater value.

In the eyes of the industry, although the concept of genetic testing is very hot, the spring of this market is far from coming. "Maybe someone may be a martyr, some people may be pioneers, but this thing still has to go forward." Chen Gang said.

(According to the requirements of the interviewee, Yang Yu and Li Xiaona in the text are pseudonyms.)

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