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Liang Junbin: Gene testing makes the change happen. 2014-08-14

At that day when the organizer invited me to make a speech, I also received a tumor gene testing report from my company colleague. Such testing uses currently up-to-date high-throughput sequencing technology to conduct in-depth sequencing, comparison and decoding for the gene sets with the clinical research evidence, scientifically related to incidence of tumor. My colleague said queerly: “Here is your report. I have to tell you, this report will make you CEO lose points.” I felt a tug in my chest. Is my genome more dangerous than that in the ordinary person?

I read this testing report at once. Indeed, 7 high-risk point mutations were detected out. I, as a technician, don’t worry about such result. No perfect gene exists in this world. I have the ability to adhere to the scientific opinions on such mutations. I noticed a special site in the ALDH2 gene. Such gene can produce the acetaldehyde dehydrogenase(ALDH), and can convert the intermediate metabolites acetaldehyde produced by drinking wines into the acetic acid. My report shows that I am of mutability. The heterozygous genetype has a little ability to decompose alcohol, but I am of homozygous genetype. This means that my ability in decomposition of alcohol is the weakest - defective homozygosis! If I drink wines, the high-concentration acetaldehyde in my body will be accumulated, and produce some toxic and side effects, which will greatly increase the possibility of the digestive tract cancer. So, I knew why my colleague said that. That is to say, my performance in drinking wine is very poor; once I drink, I will appear flushing and dizziness, and have to go to sleep. Which is the region with the highest frequency of mutation in China? Guangdong Province. I come from this place. When I have to drink outside afterwards, I may carry my gene report with me as my “amulet”, indicating that I am a qualified non-drinker. Of course, the advantage of the genetype is that I never drink excessively, so my wife never worries about me. 

To speak of tumor-related gene, you may think of the special column that Angelina Jolie published in New York Times in May 2013, in which she told the people she was a carrier of BRCA1gene mutation which has killed two of her elders. Finally, she decided to perform a prophylactic surgery for the purpose of reducing the risk of the breast cancer. This report brings broad attention to the gene testing. Looking back to the gene testing of BRCA1 and BRCA2 of the breast cancer in the USA, it has made great contribution to reducing the incidence rate of the breast cancer. 

According to National Cancer Institute (NCI), the female sufferers with the BRCA1/BRCA2 genetic mutation are apt to be the onset of disease at a young age, of whom nearly 60% will suffer from the breast cancer in a certain period. 

Among the ordinary persons, its incidence rate is only 12%. BRCA1/BRCA2 mutation type sufferers account for 20~25% that of the genetic breast cancer, up to 5~10% total incidence of the breast cancer. In other words, 5-10 out of 100 genetic breast cancer sufferers carry BRCA1/BRCA2 mutation. Moreover, it also accounts for 15% of the ovarian cancers. According to the data, it is predicted that the USA has nearly 230,000 new breast cancer sufferers. Therefore, it is of significance to identify non-genetic type and genetic type. More and more clinical researchers are devoted to this research. According to a research from JOC, the prophylactic oophorectomy is correlated with the significant reduction of the possibility of cancer and death among the BRCA1 or BRCA2 mutation carriers. Age of onset, prognosis, recurrence and therapeutic schedule of BRCA gene mutation carriers are different. If some persons in the family of these patients are carriers, how do we perform risk management? Who should be performed medical examination? Who should be performed prophylactic surgery? Who should be performed drug prevention measures? Such problems boost the professionalism of current medical system in treatment of disease and health management. In China, Annoroad has provided the genome technical support to China Health Promotion Foundation, and performed the survey and analysis of genetic breast cancers on a national scale. 

The above topics are correlated to the genetic risk evaluation of tumor gene. In fact, the gene testing, especially in genome sequencing technology, has displayed the strong forces in the individualized tumor treatment.

I do believe that the tumor genome sequencing industry will be evolved very quickly, because the whole social system will suffer from huge stress in this aspect. This group is now being threatened in life. Life is invaluable. According to different tumors, the doctors, more or less, will detect the individual gene segments based on medication or prognosis. In the past, we have attempted to apply the drugs for our patients, which possibly wastes plenty of time. But the time is the most valuable for the tumor sufferer, who faces the death threat at all time. Therefore, the analysis on independent and individual DNA segment is not enough. With the explosive growth of the tumor genome information, it is gradually considered that the tumor should not be distinguished by the pathogenic site, but should be classified and treated on the basis of the characteristics of mutation. Many targeted drugs are developed by some pharmaceutical enterprises each year. Special gene should be detected to perform the patient stratification. After obtaining mutation and chromosome information related to prognosis, recurrence, etc., the researchers need to perform the data analysis prior to treatment quickly and effectively. It can be seen that the tumor gene testing is being spread towards the whole genome sequencing. 

Earlier last year, Foundation Medicine (an American listed company) had applied the genome sequencing technology to guide the treatment of tumor patients. I discovered according to related data that, 37% doctors modified their therapeutic schedule after they read the Foundation Medicine’s gene report. Such figure was of revolutionary significance in the medical field, symbolizing the power of new-generation genome sequencing. This year, Illumina announced that the cost of genome has dropped to1000 dollars, which will greatly accelerate the development of the whole tumor treatment field. Even I am desired to perform a gene testing, and then disclose my gene data.

Nowadays, the individualized tumor treatment has been linked with some vogue words, such as big data, cloud computing, mobile medical, etc. This passes on the following information - the tumor treatment must make a revolutionary change. According to the genome analysis, the first thing of such change is to realize the private custom, thus obtaining the patient’s all genome data, panoramic and real-time. These data belong to the patient. Each patient is different, and the tissue samples of the same patient are different at the different time. Such private custom is achieved through IT application of DNA data.

Current CPU has fallen behind the computing requirement of genome data. Let us imagine that, in future, the genome data of only one patient is possible to reach nearly 1000 G. The data size of tens of thousands of patientswill challenge current infrastructure and talent intelligence system. Only organizing through efficient approach can these data be applied to the patients’ treatment and the tumors’ pioneering research. Such huge challenge will renovate the whole tumor medical industry and reconstruct the industrial ecosystem: The doctors’ knowledge on genome and genetics become more important. Moreover, they need some supports from IT and data experts, ethics and genetics consultant experts. The hardware and software of the data processing are required to be accelerated the evolution. We have noticed that some magnates, such as IBM, Google, Samsung, etc. are laying out.

Human genome program will greatly drive the development of the whole life science. Since 2006, the genome sequencing has got developed rapidly. Besides its huge value in the individualized tumor treatment, it was successfully applied in the human reproductive health, that is, non-invasive prenatal DNA testing. This is a very interesting gene testing technology. A dozen years ago, European researchers discovered that, during the pregnancy, the fetus’s some genetic materials will enter the matrix's blood, which has been elaborated by Hong Kong’s scientists later. Now we have made clear that the fetus’s DNA, RNA fragments, even cells will enter the matrix via placenta. The scientists have developed the NIPT technology on this basis. Through drawing the blood from the pregnant woman's arm and extracting mass free DNA in the pregnant woman’s blood, some chromosome diseases such as the fetus’s Down's syndrome can be performed the precision analysis. 

This technology is safe and reliable, with the same precision as current prenatal diagnosis technologies like amniocentesis, which can effectively avoid the abortion and infectious risk of the high-risk pregnant woman induced by the prenatal diagnosis. The prenatal diagnosis experts group of National Health and Family Planning Commission of the PRC, American College of Obstetricians and Gynecologists (ACOG), Society for Maternal-Fetal Medicine (SMFM) and Europe’s related societies of reproduction have given a very high evaluation on this technology. The article published in the New England Journal of Medicine (NEJM) recently indicated that the non-invasive prenatal gene testing technology is beneficial to high-risk pregnant woman as well as to low-risk pregnant woman. Compared with the routine prenatal screening, the NIPT technology has significantly lower false positive rate and significantly higher positive predictive value.

Through years of clinical practice, the non-invasive prenatal technology has driven the prenatal examination technology into the non-invasive era, and also promoted the confidence and acceptance of the pregnant woman on the prenatal screening. The precision of the routine prenatal screening is up to 60~70%, while that of the non-invasive technology is up to 99%; therefore, a considerable number of the pregnant women ask for the non-invasive prenatal examination. Some professionals said that, three years ago, we never believed that a rapid change in the prenatal examination has been made; it is time for current prenatal examination product manufacturers to think about their market crisis.

Among 100 amniocenteses done by the prenatal diagnosis center, 2 - 3 fetuses suffered from Down's syndrome, and a majority of the fetuses were healthy. It isn’t hard to understand why the pregnant women have so great enthusiasm for such new technology. Such enthusiasm is very good driving force to change the obstetrics rapidly. In my view, the non-invasive prenatal testing has been evolved into the consumer-oriented technology. It is very good for the gynaecology and obstetrics. Because of a large number of pregnant women, and scarcity and uneven distribution of medical resources, the amniocentesis clinics in most of hospitals have very heavy task, so many pregnant women fail to register. New gene technology not only promotes the reliability of the prenatal examination, but also optimizes the allocation of the hospitals’ human resources to give priority service to the pregnant women in the urgent need. Currently, the doctors’ recognition for the non-invasive prenatal technology is very high.

In fact, besides the above prevention and treatment of tumor and prenatal diagnosis, the advancement of the gene testing technology also promotes the medical reform in many aspects. For example, in the assisted reproduction sector, through performing the advance single-cell whole genome scanning of the embryo, implanting the healthy embryo without any pathogenic mutation and chromosome abnormity into the matrix, can enhance the success rate of “test-tube baby” apparently, thus decreasing the pain of repeated fertilizing attempts. Recently, an American genetic testing company has applied forthe patent that the gene technology helps the quasi-parent select the embryo with specific characters to breed customized baby. Such patent can rule out some genetic diseases, and also can determine types of offspring, e.g., color of skin and hair, athletic ability, etc. Just like the menu, you may check the box (es) at will to perform your private custom.  

Five to ten years later, we will find that we are no longer willing to back to the past. These reforms will be reflected in various aspects. Some are moderate, and some are drastic, even destructive. We will discover that the clinicians will update their concepts, and more and more doctors have the knowledge on genetics and genome; the data and biological information specialty will become universal and important, the medical intellectual resources will make a structural change, the genome big data will start its cloud computing, the sequencing terminal will tend to be portable, and the genetic counseling will play an important role. Correspondingly, the industry supervision will make radical changes. 

All these can be described with two keywords: Digitalized and Personalized.


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