What is genetic testing tamping? Besides genetic diseases, it can also save cancer!

"Have you ever done genetic testing? 」

This sentence has quietly become popular among many people who want to "master" their future health. Although most people's impression of "DNA" may still stay in paternity testing, in fact, the content of genetic testing has long been beyond this scope.

There are more than 30 manufacturers specializing in "genetic testing" in Taiwan Province Province, including maternal and fetal genetic testing, cancer drug testing, disease risk prediction and talent testing, all of which are popular projects. Take Huizhi Gene, a well-known manufacturer in the field of maternal and child genetic testing, which receives at least 1 10,000 customers every month.

However, the "gene" of the human body is the sea of Wang Yang, and there are many unknown parts, just like "scientific fortune telling", which also makes many people wait and see whether to join the "test" ranks.

How much is the cost of genetic testing? If genetic testing is regarded as a daily "health check-up", the price is really high, and it is no wonder that a medical check-up of 30,000 to 40,000 yuan is hesitant.

However, obtaining genes is very simple, but testing and analysis are very difficult. A machine is tens of millions and hundreds of millions of yuan, and some companies will send the obtained data abroad for analysis. 30,000 yuan to 40,000 yuan, which is lower than "300,000 yuan" when genetic testing was just started110.

At present, there are two common methods for gene analysis, one is Sanger method, and the other is Next Generation Sequencing (NGS). The number and speed of genes that can be analyzed by next-generation sequencing are more than Sanger sequencing, so most genetic testing companies will use NGS for analysis now, but the price will be higher.

The process of genetic testing

Blood and saliva are commonly used for genetic testing in human physical examination, and amniotic fluid may also be used if it is tested before delivery. If you want to start genetic testing, you can first look at the items to be tested and what samples to use for testing.

After collecting samples, it's time for genetic analysis. Because in addition to machine analysis, some parts also need manual analysis, so the time required varies from 3 days to 2 1 day depending on the detected item type, item quantity and the quantity received by the manufacturer.

Finally, it's time to read the report. The manufacturer will arrange a consultant to explain the report and tell what to do next. However, some manufacturers report directly without analysis and follow-up arrangements, which often confuses the subjects, which is not a good practice of genetic testing.

There are three genetic tests. How should I choose? Zheng Boren, chairman of the Maternal and Fetal Medical Association, believes that genetic testing can be roughly divided into three categories, one is prenatal and postnatal genetic testing, the other is the use of drugs and therapies for cancer patients, and the other is the so-called "consumer testing".

Maternal-fetal genetic testing and neonatal genetic testing before and after delivery are collectively called "maternal-fetal genetic testing and neonatal genetic testing", which is the earliest genetic testing project. The reason is that newborns inherit many diseases, some of which cannot be found at birth. Until birth, panicked parents rushed to ask, "Why? In order to find the source of "disease" and "cure", the medical community has developed genetic testing.

For example, the well-known Down syndrome, marine anemia and hemophilia can all be found through prenatal genetic testing, and rare diseases passed down from generation to generation, such as spinal muscular atrophy (SMA) and spinocerebellar atrophy, can also be screened out to avoid being introduced to the next generation.

Zheng Boren believes that because of the development of prenatal examination, the prevalence of genetic diseases has dropped rapidly; They can not only find the reasons, but also know how to prevent them, and some of them have found solutions. At present, the national health department also subsidizes the cost of prenatal testing, which can detect the most common genetic diseases. It is recommended that every parent can do it.

The detection of cancer screening is mainly aimed at "cancer patients". For example, if the EGFR gene is positive in lung cancer patients, the effect of targeted drugs will be better, so when lung cancer enters the targeted treatment stage, patients will be required to do testing first; Breast cancer is a genetic marker that can detect HER2.

Therefore, this part of genetic testing is gradually incorporated into the standard part of cancer treatment, including targeted drugs or immunotherapy. The gene reaction will be detected first. If the response is good, it can be treated, which can reduce the waste of ineffective treatment and make patients have greater hope of successful treatment.

However, in addition to known cancers such as lung cancer and breast cancer, in fact, cancer is slowly studying different genotypes. For example, Zhang, the founding chairman of Taiwan Province Precision Medicine Society, said that more than 30 molecular types have been found in lung cancer alone. If we research and develop drugs for these types one by one, it can really meet everyone's needs, and cancer can become a disease that is no longer terrible.

Consumption test "Consumption test" is aimed at ordinary people, analyzing the information contained in genes, such as predicting the risk of diseases, including cancer and cardiovascular diseases, or analyzing individual genes, such as talent test, personality test and mental test. However, Lin Xinxi, a physician in the Department of Genetic Medicine at National Taiwan University Hospital, has reservations about this test.

Because of these tests, in addition to the diseases that really find the pathogenic genes, other diseases and talents are compared with the genes in the database, such as what the genes of diabetic patients look like and how different your genes are from his, which is equivalent to using big data to analyze risks.

But in fact, even if there are disease genes, they may not be displayed. For example, obesity genes can control the weight at a normal level through acquired diet control and exercise efforts.

"Because there is no medical treatment at present, I can only tell you that this disease may happen one day, and the doctor's position will not encourage everyone to do it." Lin Xin said.

But Zheng Boren is more open-minded. "We all know that the current risk prediction is made of big data, so the more people do it, the more accurate the final result will be. What should be troubled is how to integrate data; But we also know that in any case, there are risks, and it will not reach 100%, so the consultation after completion is very important. 」

Zheng Boren believes that a person who is prone to cardiovascular diseases may not care about his lifestyle. After telling him the risk, he will start to quit smoking and eat less oil and salt. This is the purpose of the test.

"Of course, it is undeniable that some people may think after finishing, I may have a heart attack, so how the consultant explains the client's personality and psychological state can determine the next step. Zheng Boren added.

Therefore, Zheng Boren believes that before doing genetic testing, we must first make clear our purpose and what we want from genetic testing. Only by knowing your own needs and choosing different projects can you know what to do.