Release date: 2016-07-13
Most people heard about the word genetic test for the first time, probably because Angelina Jolie had previously announced in an open letter that she had resected bilateral breasts, ovaries and fallopian tubes in 2013 and 2015, respectively. surgery.
One of the most important reasons is that Julie's blood test showed that she is a BRCA1 mutation carrier, the risk of breast cancer is estimated to be 87%, and the risk of ovarian cancer is 50%, while her mother, grandmother and Aunt died of cancer.
BRCA1/2 under the star halo
Angelina Jolie, the star, released such a message, and BRCA1/2 under this aura naturally attracted people's attention.
Readers who are not familiar with BRCA1/2 can start with the introduction of Professor Liu Qiang, deputy director of the Breast Cancer Department of Sun Yat-sen Memorial Hospital of Sun Yat-Sen University:
BRCA1 and BRCA2 are abbreviations for Breast Cancer Susceptibility Gene 1/2, breast cancer susceptibility genes 1 and 2. Both of these genes are tumor suppressor genes that encode proteins that produce tumor cell suppression.
Normal humans have a large number of cell renewals every day. A small amount of cancer cells will be produced in this process, but these cancer cells will soon be inhibited by the tumor suppressor gene or recognized by the immune system and will not form tumors.
BRCA1/2 protein is part of this line of defense. If their gene mutations lead to the loss of tumor suppressor function, the incidence of breast cancer, ovarian cancer or some other tumors will increase significantly. Because they are first discovered in breast cancer, they are called breast cancer susceptibility genes.
If you use the factory to make a simple metaphor for Julie, this is probably the case:
There is a factory with many assembly lines that produce parts every day. But after all, there are so many parts and high precision, it is inevitable that there will be some defective products. Therefore, two workers were arranged in the factory, and the parts produced on the assembly line were taken every day.
But good flowers don't open often, and good times don't always happen. Suddenly a worker on a certain assembly line was sick and took time off. That's no way, there are so many jobs, I still have to do it.
Another worker is too busy to come, because it is too tired, it will inevitably be misunderstood, and the defective rate will rise. It’s okay once or twice. If you work as a person for two people for a long time, you also know that the King’s King Kong can’t hold back, and the number of defective products is increasing. If there are many defective products in the entire assembly line, the factory will put a big deal on it, and it will even cause the entire factory to close down.
Therefore, what Julie is facing now is that she already knows that the same type of assembly line of many factories in the same department has already experienced such a situation, causing the entire factory to close down. Moreover, she also determined that there was a high probability that a worker would go to work on the assembly line. Therefore, in order to avoid the whole factory, she decided to stop the entire assembly line to ensure the smooth operation of the other assembly lines.
This is Julie's decision based on the family history and her own test results, but it also makes genetic testing into the eyes of many people. Genetic testing is a possibility to find out if a "worker" is sick.
Genetic testing service worth 3999
At present, genetic testing services for different diseases have appeared on the market, taking Go health official website as an example, folate metabolism gene detection, H-type hypertension gene detection, hereditary deafness gene detection, alcohol metabolism ability gene detection, paternity test, breast Cancer/ovarian cancer risk assessment, genetic tumor gene detection, etc. The price also ranges from 400 yuan for folate metabolism gene detection to nearly 10,000 yuan for genetic tumor gene detection.
Go Health official website part of the genetic testing project
According to the order statistics in the app, the most popular check item is indeed the same paragraph of Angelina Jolie, the BRCA1/2 full coding region. (Perhaps this is not unrelated to the propaganda of the media, or is it that women are more concerned about their physical health? This will not be discussed for the time being.)
How are these projects developed? Go Health CEO Chen Chi told Lei Feng. The Go health genetic testing policy is to “fill the gaps in traditional medicine and find the risk of disease as soon as possibleâ€. The selected items are not based on the difficulty of genetic testing, or the “hotness†of the disease, but are selected based on the characteristics of each population stage and the prevention of disease and health awareness. For example, the ability of folic acid metabolism is for pregnant women; and the ability to metabolize alcohol is designed for the socially motivated family.
In order to find out, with the help of Go Health, Lei Feng.com also made a BRCA1/2 gene test worth 3,999 yuan.
In fact, for a well-off family with a good economic situation, even if you do not do nearly 10,000 yuan of genetic tumor genetic testing, spend 3,999 yuan for a genetic test, it seems to be too "luxury". But expensive and cheap are relatively speaking. According to industry insiders, the cost of human genome sequencing has fallen below $1,000, and the cost of more targeted gene sequencing is only a small amount. At present, similar tests on the market are in the thousands of dollars, and with the development of technology, the cost of testing is actually decreasing.
Different from blood tests, considering the convenience of self-sampling, all of Go Health's genetic service tests use a method of mailing sample swabs. After filling in the personal information on the Internet, paying the bill and placing the order, Lei Feng received a parcel from Guangzhou within three days. According to the address, this is an office address of Go Health. After receiving the samples, the staff will send them to the Golden Field Inspection Center in Guangzhou.
There are two disposable genetically sampled swabs and two test tubes in the box with a genetic test application and informed consent. The user needs to sign the consent form in order to be deemed to be truly authorized to the inspection agency.
According to the introduction of the Golden Field Detection, the methods used in gene detection are mainly the next generation sequencing method (NGS) and the multiplexed probe amplification technology (MLPA).
NGS is currently the most advanced sequencing method. Due to its high accuracy, high sensitivity and high throughput, it can simultaneously perform traditional genomics research (sequencing and annotation) and functional genomics (gene expression and regulation, gene function, protein/nucleic acid). Interaction) research.
MLPA is a new technology for qualitative and semi-quantitative analysis of needle DNA sequences to be tested in recent years. It is also a test method widely used in a variety of genetic diseases.
These two methods combine to detect all mutant forms of the full coding region of the BRCA1/2 gene.
The test process is much simpler than imagined. You don't need to take a needle to draw blood. You don't have to wait in line. You only need to wipe the swabs on the inner and outer walls for dozens of times. After waiting for the swab to air dry, put it in a test tube and return it with the consent form.
The test report can get the results within one month. Like the home check, Go Health will send a reminder message to the user. On Go's official website and app, users can access detailed analysis reports or original diagnostic reports.
Reviewing the whole process of genetic testing, the time of self-sampling is no more than twenty minutes, and the operation process is equally simple for medical white. The only worry of Lei Feng.com (searching for “Leifeng.com†public number) editor is fear of himself. The sampling operation is not standardized, and the sample cannot be sent for inspection. The person in charge of Go Health also told Lei Feng. If the sample is found to be undetectable after the inspection, the user will be notified at the first time and a new test will be arranged.
After experiencing a genetic test of Angelina Jolie with the value of 3,999 yuan, the author privately thought that the process of genetic testing was not as difficult as imagined, but in the process, the author also thought of some possibilities. There are problems.
Negative doubts, or is it because of squandering?
Taking the cancer risk of BRCA1/2 gene mutation carriers as compared with the general population, the risk of breast cancer and ovarian cancer in carriers is several times higher than that of the normal population.
Nonetheless, among the genetic factors affecting the development of breast cancer and ovarian cancer, only 5% and 9% were caused by BRCA1/2 mutations.
Professor Liu Qiang also said to Lei Feng. "Even if there is surgery, there will always be some small residues in the tissue. However, because the amount of cancerous tissue has been removed a lot, it can only be said that the risk of cancer is also reduced." It is not the same as once and for all, like Julie.
As stated in the line of words specifically stated in the report:
"The occurrence of cancer is not the result of a single factor of genetic mutation, but also related to various factors such as living environment, living habits, and work stress."
According to a 2010 “Direct-to-Consumer Genetic Testing†study, most respondents who used the service said they did not change their lifestyle or health management due to the results of the tests.
Risk testing for genetics can certainly be a way to improve health behavior, but it does not provide sufficient justification and motivation for maintaining a healthy lifestyle. Changing the way of smoking, alcoholism and other unhealthy health can't be because the genetic test results show that "because your genetics, you have a 0.5% higher risk of cancer than normal people" and what is the direct change - after all, 0.5% difference in clinical It does not have much guiding significance.
Of course, this is still a more exaggerated statement, even if this number is changed to 10%, 20%, then what?
"Not suffering from cancer is 0%, and cancer is 100%. I use the predicted probability to tell me the possibility of cancer. I think this is not at least big for me." One is engaged in the genetic testing industry. The relevant person said this to Lei Feng.com (searching for the “Lei Feng Network†public number), but he added very quickly. “But genetic testing is not to say nothing, just to say that there is no genetic history like me, at least not For customers with a history of sexual genetics, this result can only be said to be a proof that reduces the possibility of cancer caused by certain genes."
A more likely scenario is that for users who show positive results, will they be ruined and stunned because of unknown risks?
There are not many diseases that can predict mature risk. Although breast cancer has become a typical case of American medical insurance because of extensive research, even the BRCA1/2-based gene sequencing results can only explain the following problems:
1. No mutations were detected in the BRCA1 gene and BRCA2 gene in this sample;
2. For patients with breast cancer/ovarian cancer, the results suggest that the cause of the disease is not related to the BRCA1/2 gene pathogenic mutation;
3. For individuals who have not yet developed breast cancer/ovarian cancer, this test can only exclude breast cancer/ovarian cancer risk caused by BRCA1/2 gene mutation, and can not rule out other factors caused by breast cancer / ovary Cancer risk.
Go Health explained the reasons for Lei Feng.
1) In addition to the BRCA gene, mutations in other genes (such as TP53, PTEN, STK11, ATM, MMR, etc.) increase the risk of breast cancer/ovarian cancer;
2) Breast cancer affected by genetic factors only accounts for a part of breast cancer. Most breast cancer/ovarian cancer are sporadic tumors, and the risk of disease is related to various factors such as environment and diet.
In the words of the head of the Go health market, the inspection agency is only responsible for the results of the current sample, and can only rule out the cause of the disease is not related to BRCA1/2, but it is impossible to rule out the possibility of future mutations; It may also be caused by other factors.
Medicine is rigorous, and the disease is full of accidents and uncertainties. Such contradictions allow genetic testing to regulate its expression in the same way as "talking and not speaking." But for test users with a family history of genetics like Angelina, doing such a genetic test is still a lot of benefits. Combined with the results of genetic testing, coupled with the analysis of risk prediction models constructed by family history, doctors must be able to make better predictions and warnings about the health of users.
Friction and spark
On the other hand, genetic testing involves a delicate relationship between insurance companies and the government.
In general, insurance companies increase premiums and even refuse to provide insurance for high-risk groups. In this regard, the United States passed the Anti-Genetic Discrimination Act in 2008. It is stipulated that insurance companies should not use genetic information and predicted risks to treat customers differently when providing medical insurance. In other words, the state has clearly stipulated that insurance companies are not allowed to treat customers differently because they carry susceptible genes.
In the case of BRCA genetic testing, such mature projects have been included in the scope of preventive inspections by the Obama Medical Act, and insurance companies need to pay for them, but such projects are still relatively small.
China's current genetic testing services are still in a relatively early stage and have not yet been included in basic medical insurance.
In 2014, the domestic application of gene sequencing was stopped. The industry believes that the State Food and Drug Administration and the National Health and Family Planning Commission issued a notice to stop genetic testing, the original intention is to rectify the industry and rationalize.
Taking the gold domain test as an example, Go Health CEO Chen Chi told Lei Feng that the main suppliers of Jinyu testing instruments are Affymetrix, ABI, Qiagen and other well-known enterprises. All laboratory equipment has passed the American CAP laboratory certification, and the experimental process. Operate in strict accordance with international regulations such as AMP/ACMG and follow the CAP/ISO15189 specification.
Before the stop at that time, the domestic genetic testing services mainly had the following two problems:
First, the charging standards are confusing. Because genetic testing has not yet been included in clinical testing, it can be priced for testing by reporting. In the absence of the charging standard, there is a case where the price of the same screening project is far from the same.
Second, the inspection process is not standardized. At present, domestic genetic sequencers are imported from abroad, and they need to be registered by domestic regulatory authorities.
However, a year later, the country re-launched and passed the first batch of clinical application trials for gene sequencing. With the rapid development of sequencing technology, genetic testing is the most successful direction for the industrialization of the entire gene sequencing industry. In the future, it will certainly enter the homes of ordinary people, and its relationship with the insurance industry and the government will also have more. The development space, at least - from the price, to become more intimate.
Source: Lei Feng Net
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